HIRSUTISM in PREMENOPAUSAL - Cares Foundation · important hirsutism” as an innovative...

2414 Morris Avenue, Suite 110Union, NJ 07083

In New Jersey: 973-912-3895 Toll Free:1-866-CARES37

Fax: 973-912-8990Email: [email protected]: www.caresfoundation.org

Volume 8 • Fall 2008

Endocrinologists frequently encounterpatients who present with hirsutism,but have lacked clear guidelines fordiagnosing and treating this commonproblem. That situation changed whenan expert task force published“Evaluation and Treatment of Hirsutismin Premenopausal Women: AnEndocrine Society Clinical PracticeGuideline” in the April issue of TheJournal of Clinical Endocrinology &Metabolism. A pair of meta-analyses ofreviews of the roles of anti-androgensand insulin sensitizers in the treatmentof hirsutism accompanied the guidelineto provide solid reinforcement for therecommendations.

Introduction

“There has never been any agreementon when to evaluate hirsutism, how toevaluate it, and the best methods fortreating it,” said Kathryn Martin, M.D.,who chaired the task force. Dr. Martin isassistant professor at Harvard MedicalSchool, a faculty member of theReproductive Endocrine Unit atMassachusetts General Hospital inBoston, and senior deputy editor ofEndocrinology and Metabolism at

Up-To-Date.

The new meta-analyses and the taskforce’s careful review of the literaturewere critical in developing theguideline. “The evidence is somewhatlimited,” Dr. Martin told EndocrineNews. “There are clinical trials on oralcontraceptives, anti-androgens, andinsulin sensitizing agents, but many ofthem are not very high quality. This wasan opportunity to review all available Article continued on page 7

data and, when possible, perform meta-analyses, to come up with the bestpossible estimate of benefits of differenttreatments. This had never been donebefore for hirsutism treatments.”

Dr. Martin was selected by the ClinicalGuideline Subcommittee of TheEndocrine Society to lead the effort andshe was joined by six additional experts,two methodologists, and a medicalwriter. “We first decided the importantquestions that we wanted to beaddressed with a meta-analysis,” Dr.Martin said. “The meta-analyses wereessential because they gave us theevidence base to feel more confidentwith our recommendations andsuggestions.”

Improving health...connecting people...saving lives

Some of the guideline’s most innovativefeatures show the patient’s perspectiveon her condition, the best evidenceregarding when to test for highandrogen levels, which pharmaco-logical treatments are most effective,and which hair removal treatments torecommend.

Patient Importance

Hirsutism is defined medically asexcessive terminal hair that appears ina male pattern, as indicated by aFerriman-Gallwey score of 8 or more.But Dr. Martin said putting too muchfocus on this score has been a problemin previous recommendations for threereasons: “First of all, if you are basingyour treatment approach on theseverity of hirsutism, you have to befamiliar with this Ferriman-Gallweyscoring, which is very subjective. Butmost physicians are not very familiarwith it. The second problem is, by thetime women come to see a physician,virtually all have already been doingsome sort of cosmetic intervention ontheir own. They are shaving or pluckingor waxing, so you can’t get an accurateFerriman-Gallwey score when you seethem. The third reason is that theclinician’s assessment of the severity ofthe hirsutism may not reflect thedegree of distress it causes the patient.A score of 7 could be just as distressingas a score of 17; it just depends on theindividual’s perception of her problem.”So the panel coined the phrase “patient-important hirsutism” as an innovativeperspective for treating the condition.

HIRSUTISM in PREMENOPAUSAL

WOMEN New Clinical

Guideline from The Endocrine Society

By Eric Seaborg

1© CARES Foundation, Inc. Fall 2008

2 © CARES Foundation, Inc. Fall 2008

A Message from the Acting Executive DirectorIN THIS ISSUE

CAH ArticleHirsutism in Premenopausal Women 1, 7

Message from ActingExecutive Director 2

Farewell to Kelly 3

Founders, Board, Staff 4

Fundraising 4

CAH Studies 5

New Additions to Board of Trustees 6

Advocacy 6, 10-11

NewsDuocort Gets Orphan Drug Designation in the US 8

Fall Michigan Families CAH Gathering 8

Thank You Stephanie! 8

Personal Story 9

Presidential CandidatesHealth Care Proposals 9

No Sweat Results 2008 12

© 2008 CARES Foundation, Inc. All rightsreserved. Republication or redistributionof CARES newsletter content, includingby framing or similar means, is prohibitedwithout prior written consent of CARESFoundation, Inc.

Dear Friends,

There have been manychanges at CARESrecently. Most notably,our President andFounder, Kelly Leight,has stepped downfrom her seniorleadership roles at

CARES. Kelly will remain active with CARESas a member of our Board of Trustees, but herabsence on a day to day basis is felt here inthe office and she is truly missed. The staffand board of CARES Foundation thank Kellyfrom the bottom of our collective hearts, forher vision, commitment and countless hoursshe has devoted to CARES over the pastseven years.

Comprehensive Care Center Guidelines

CARES is partnering with the EndocrineSociety to develop comprehensive careguidelines for the treatment of CAH. This isexciting news as we are in the midst ofplanning our summit to establishcomprehensive care centers for CAH. Asmentioned in our last newsletter, “We believethat there should be a place for everyonewith CAH to go for knowledgeable andexperienced healthcare with access to sub-specialists as needed.” This is yet another step.

Phoqus Pharmaceuticals

We regret to report that PhoqusPharmaceuticals plc, a drug developer in theU.K., has put its main trading unit intoadministration (the British equivalent ofbankruptcy) after failing to find a commercialpartner for its main product, Chronocort.This is a very unfortunate turn of events asthe Phase II study from Phoqus evaluatingChronocort (a delayed, sustained releasehydrocortisone therapy) in patients withCAH had promising, positive results.

Support Groups

This summer marks the completion of ournew Support Group Manual. Along with themanual, CARES held several webinars tointroduce the manual and train our supportgroup leaders with the goal of creating anationwide support community. Ourmembers will now be able to contact theirlocal support group leader for CARESsupport services. We’re very excited to nowhave the manual that our support volunteerscan reference to better serve our members.For more information on how to become asupport group leader in your area, please

e-mail me at [email protected]

2009 CARES Family Conference

We have received many inquiries regardingour next family conference. Rest assured wewill be holding our conference in the Fall of2009! The upcoming conference will beheld in New Jersey. The planning committeeis in place and we are working on thedetails. We will be excited to share thesedetails with you as they emerge. CARESFoundation has always underwritten thefamily conference which is an enormousexpense. Although we have always had someevent sponsors, a large portion of the costfalls solely on CARES from our annualfundraising campaigns. The currenteconomic climate has taken a toll on ourdonations and funding which will haveprofound effects on our conference andother programs. So, we turn to you, ourmembers, for assistance. If you believe yourcompany might be a potential sponsor,please contact Ellie for assistance atellie@cares foundation.org.

ENDO 2008

For the first time, CARES had a booth at theAnnual Endocrine Society Meeting. Wewould like to give extra special thanks to

3

Dearest Kelly,From National AdrenalDiseases Foundation (NADF),we would like to extend toyou our best wishes for a well-earned retirement from activeservice for congenital adrenal

hyperplasia (CAH) patients and their families.Your patient advocacy work has been aninspiration to us all.

A brief history: Kelly Leight joined NADF several years agowhen a family member was diagnosed with non-classical CAH. After finding no organization inthe United States specifically dedicated to hercondition of interest, she started CARES.

That was seven years ago, and in that shortlength of time, she has made CARES into acomparative giant, reaching out to untoldnumbers of CAH patients and their loved ones.Her foundation has been involved in and theactual starting point of important CAH research.Most notably, she has saved the lives of countlessnewborns by tirelessly campaigning to achievenewborn testing for CAH in almost all 50 states.

Kelly, the NADF employees, board members,medical advisory board and volunteers haveenjoyed working with you over the past 7 years,and will miss your help and guidance.

Thank you for all the wonderful work you havedone, and know that CARES will continue togrow and save lives.

NADF looks forward to continuing in ourrelationship as “Sister Organization” to CARES formany years to come.

With deep admiration and affection,

The Employees, Board Members, MedicalAdvisory Board Members and Volunteers ofNational Adrenal Diseases Foundation(NADF)

Farewell to KellyCedarlane Labs for sponsoring our booth and making it possible for usto be there. While there, I had the opportunity to attend severallectures. I am thrilled and excited to tell you that the lecture given byDr. Phyllis Speiser on CAH in the Adult had overwhelming response.Attendance was standing room only and there were almost as manypeople listening out in the hall as there were in the auditorium! ENDO2009 will be held in June in Washington, DC and I encourage all of youto try to attend as it is a wonderful conference.

CME Meeting

CARES Foundation is planning its very first meeting for physicians toearn continuing medical education credits (CME’s). We expect to holdthe meeting in conjunction with the 2009 Endocrine Society Meetingin Washington, DC next June. The focus of the meeting will be on thetransition from pediatric to adult CAH care. The planning is underwayand we are thrilled at the prospect of holding such a meeting to helpeducate the medical community about CAH.

Getting Ready for School/Camp Packets

CARES Foundation has created a Getting Ready for School/Camppacket to assist you in building a strong team of family, friends, healthcare providers, teachers and others to ensure the health and safety ofyour child with CAH while at school or camp. The packet is full ofvaluable information including parent tips, a sample medicalinformation letter, medical supply checklist, a health plan worksheetand information about 504 plans. We have had great success with thepacket as we have already filled close to 200 orders! We are thrilled tomake this valuable tool available to our members and their families. Toorder the Getting Ready for School/ Camp packet, visit the CARESShop at www.cares foundation.org.

Fundraising

CARES would like to thank Rolex for their generous donation andeveryone who bought raffle tickets for making this a successfulfundraiser. With your help, CARES raised $7,675 during this raffle.See our raffle winner on page 4. Our No-Sweat results can be foundon page 12. Thanks to everyone who helped make this year’s

No-Sweat campaign a success.

It is with great enthusiasm that we move into the future. We aredelighted to continue the wonderful work that Kelly began and growin exciting new directions.

All my best,

Suzanne

© CARES Foundation, Inc. Fall 2008

4

Family Fundraisers


CARES Foundation is able to offer support to families affected by CAH, fundmedical research for new treatments and a cure for CAH, and educate healthcareprofessionals because of family fundraisers like these. We want to thank all of theindividuals and donors who participated in these events. If you’d like to raisefunds and awareness in your community, please contact Ellie Avitan, DevelopmentDirector, at [email protected] for assistance.

Alexandra’s1st birthday!Alexandra Thiel’s first birthdaywas made even more specialby many of her party guests: toadvance research, educationand support of CAH, theymade gifts in Alex’s honor toCARES Foundation totaling$290. Though she has salt-wasting CAH, Alex is doinggreat. She is growing anddeveloping well, and couldn’tbe prettier in pink!

Mrs. Suhovsky’s 5th Grade ClassThough the money came innickels, and though they’reonly 10 years old, Mrs.Suhovsky’s fifth grade classmanaged to raise nearly $200for CARES Foundation. Thestudents unanimously decidedto collect coins for CARESFoundation in honor of aclassmate’s sibling, who isaffected by CAH. Every littlebit counts!

Cleveland MarathonAs Beth Silverman trained forthe Cleveland marathon thispast spring, crossing the finishline wasn’t the only goal inmind. Beth was running tomake a difference in herboyfriend Bobby’s life by askingfriends and family to sponsorher efforts with a donation toCARES Foundation. “I’ve seenwhat Bobby goes through eachday” said Beth, and CARESFoundation “is the organizationthat means the most to me”.

Beth earned $670 for CARES.

Pampered ChefSonya Matson of Florida, whose son Erik has salt-wastingCAH, opened her home to family and friends for aPampered Chef party that raised over $260 for CARESFoundation. Who knew so many people needed fancykitchen gadgets and cookware? Great job Sonya!

Mathies Airman Leadership SchoolThe students of Mathies Airman Leadership School class08E raised close to $2900 for CARES Foundation throughvarious lunch fundraisers. There were many hot dog,hamburger, and Frito pie days at the flight school.

And the winner is… Eden Santa Cruz!

CARES would like to

congratulate Eden on

winning the beautiful

Rolex watch.

FOUNDERSKelly and Adam Leight

Staff & ConsultantsSuzanne R. Levy, Acting Executive [email protected]

Meryl I. Stone,Chief Operating [email protected]

Ellie Avitan, Development [email protected]

Mazal Wolfskehl, [email protected]

Camela Cruz, [email protected]

Odaly Roche, Administrative [email protected]

Gretchen Alger Lin, Public [email protected]

Stephanie Erb, Parent/Family [email protected]

BOARD OF TRUSTEESGregory Kraff, Acting PresidentJessica Hall Upchurch,

Acting Vice PresidentVivian Altman Quintanilla, TreasurerStephanie R. Fracassa, SecretaryDeborah Brown, R.N.Louise Fleming, R.N.Janet GreenMonica L. HeinzeTonya Judson, R.N.Kelly Rosso Leight, Esq., President EmeritusAlan MacyStephen MaebiusCatherine PetersonKarthik RadhakrishnanVictoria ShenderovichDiane Snyder, M.D.Daniel TaylorMichael P. Wajnrajch, M.D.

SCIENTIFIC & MEDICALADVISORY BOARDHenry Anhalt, D.O.Richard J. Auchus, M.D., Ph.D.Ricardo Azziz, M.D.Susan W. Baker, Ph.D.Sheri A. Berenbaum, Ph.D.Felix A. Conte, M.D.Alejandro Diaz, M.D.Walter Futterweit, M.D.Mitchell E. Geffner, M.D.Karen J. Loechner, M.D., Ph.D.Claude Migeon, M.D.Walter L. Miller, M.D.Maria I. New, M.D.Sharon E. Oberfield, M.D.Dix P. Poppas, M.D.Richard C. Rink, M.D.Scott A. Rivkees, M.D.Richard Ross, M.D.David E. Sandberg, Ph.DEllen Seely, M.D.Phyllis W. Speiser, M.D.Bradford L. Therrell, Ph.D.Maria Vogiatzi, M.D.Garry Warne, M.D.Selma Feldman Witchel, M.D.

This newsletter is published 4 times a year.


CAH STUDIES

WHO: Children with CAH whoare 8-12 years old (bone age 14 years)and are still growing. Siblings (6-14years old, bone age 14 years old) ofthose children with CAH whootherwise meet the same eligibilitycriteria except that they do not haveCAH and are not on glucocorticoids.

WHY: Although cortisol replace-ment is essential to treat children withCAH, there is the potential risk ofover-treatment with glucocorticoidsthat can result in abnormal weightgain, decreased linear growth and,more recently reported in adults, therisk of osteoporosis. We are nowtesting if there exists a risk forosteoporosis in children with CAHand if this risk is related to the dosingof glucocorticoid used, as would beexpected with any medical conditionin which steroids are required forlong-term treatment. We are alsoexamining if the subtype of CAHcontributes to the risk forosteoporosis.

WHERE: Children will be enrolledin the study at the General ClinicalResearch Center at the University ofNorth Carolina, Chapel Hill.

WHAT: Your child would have:

1. Bone Age X-ray

2. DXA scans (to screen forosteoporosis and for subtlespine fractures).

3. Special X-ray of his/her arm to look at the effects of glucocorticoid dosing (Cortef, for example) on bone structureitself

CAH and OSTEOPOROSISSCREENING STUDY

UNC Chapel Hill, North Carolina

4. Blood and urine tests todetermine the degree of his/her“control” of CAH

5. Blood test for genotyping for allchildren in the study. In thisway, “control” siblings can findout if they are “unaffected” or“carriers”.

WHEN: This would all occur in aone-time visit (3 hours) for your childwith CAH and/or sibling.

HOW MUCH: The clinicalvisit, including laboratory testing,radiologic evaluation and physicalexam will be paid for by this protocol.Overnight accommodations can bearranged, a rental car to/from theairport and parking at UNC will becovered. Travel assistance is possible(please inquire for details). There is a$50 compensation provided forincidental costs for each childenrolled.

For more information, contact:Karen J. Loechner, M.D./Ph.D.Director, UNC PediatricOsteoporosis ClinicAssistant Professor, PediatricEndocrine Unit(919) 216-5946 (*pager)(919) 966-4435 x 224 (voice mail)(919) 966-2423 (fax);or

Roxanne Schock, CDE/RN

Study Coordinator

(919) 966-0428 (voice mail)

(919) 966-0971 (fax)

Classical AdultWomen’s Quality of Life StudyCARES Foundation and Dr. SheriBerenbaum from PennsylvaniaState University have launched aquality of life study of womenwith classical CAH. It is open towomen with classical CAH (Saltwasting and simple virilizingforms) over the age of 18, andentails answering a writtensurvey. If you have questionsabout the study or want moreinformation, please contactSuzanne Levy at 1-866-227-3737

or [email protected]

5

NCAH study at Children’sHospital of Los AngelesThe Division of Endocrinologyat Children’s Hospital LosAngeles is currently recruitingsubjects for a research studyaimed at determining thestress-fighting ability in subjectswith Non-classical CongenitalAdrenal Hyperplasia (NCAH)and comparing these responsesto those in subjects withClassical Congenital AdrenalHyperplasia (CAH) and those incarriers of either disorder. Ifyou have NCAH, CAH or are afamily member (parent orsibling) of someone with eitherdisease, and are interested inparticipating in this study,please contact:

Mitchell Geffner, M.D.

at 323.361.7032 or

[email protected]


Victoria (Vika) ShenderovichVika works as a financial analyst inFinancial Guarantors group at Moody'sInvestors Service. She's been with thecompany for 11 years. Prior to that, Vikaworked briefly at Lehman Brotherswhere she was a coordinating liaisonbetween trading floors and technologygroups.

Vika holds a BA degree in Economics from ColumbiaUniversity. Born in St. Petersburg, Russia, she moved to Israelin 1990, and came to the US in 1993.

Karthik RadhakrishnanKarthik is a Senior Research Analyst atING Investment Management in NewYork. Karthik’s research focus is nowprimarily centered on healthcareinvestment opportunities. On theacademic front, Karthik received a BSin chemical engineering from theIndian Institute of Technology, a MS incivil and environmental engineeringfrom the State University of New York

at Buffalo and a MBA from the University of MichiganBusiness School. Karthik holds the Chartered FinancialAnalyst designation.

Welcome Aboard!

Michael Wajnrajch. M.D.Mike is a pediatric endocrinologist with extensive clinicalexperience in CAH. He is currently a medical director forendocrinology at Pfizer Inc, with responsibility for the UnitedStates, where he oversees clinical and preclinical activitiesrelating to endocrinology. Mike is also a Clinical AssociateProfessor of Pediatrics at NYU.

Mike has lived in Argentina, the US and Israel. He enjoysspending time with his wife and three children.

Dan TaylorDan brings a wide range of experience in planning/ strategy,general management, and finance from his 14+ years ininformation technology and financial services industries. Dancurrently oversees capacity planning and operations for all ofDell’s consumer tech support centers.

Dan is a Michigan native who resides now in Austin, Texas withhis wife, Meridith, and two sons, Luke and Colt. His oldest sonis a happy, healthy boy that was fortunately diagnosed andtreated for SWCAH as a result of newborn screening and followup care in Texas.

Deborah Brown, R.N.Deborah is a registered nurse and a motherto two wonderful children. As both amedical professional and mother of adaughter with CAH, she is looking forwardto the opportunity to help advance theCARES mission.

New additions to Board of TrusteesCARES Foundation is delighted to welcome Michael Wajnrajch, Dan Taylor, VictoriaShenderovich, Deborah Brown and Karthik Radhakrishnan to our Board of Trustees!

World Health Organization Considers Adding Hydrocortisoneand Fludro-cortisone to Essential Drug List

CARES Foundation advocacy partner, Dr. Kate Armstrong,President & Founder of Caring & Living As Neighbours(CLAN) in Australia, has submitted an application to the World Health Organization for the inclusion ofhydrocortisone and fludrocortisone in WHO's Essential Drug List. Over the past several months, CARES memberfamilies and medical professionals have been adding their voices to others around the world to make thesemedications available to children in resource-poor countries. Without these essential drugs, children affected bya wide variety of conditions face serious morbidity and often death.

The Second Meeting of the Subcommittee of the Expert Committee on the Selection and Use of EssentialMedicines ended 3 October 2008. To follow this process and the outcome of the subcommittee’s meeting,please visit: www.who.int/selection_medicines/committees/

Advocacy

7Fall 2008© CARES Foundation, Inc.

Androgen Testing

A patient’s first focus may be on hairgrowth, but the endocrinologist is likelyto think first of any underlyingconditions that might be behind it. Themale-patterned hair growth of hirsutismdepends on the presence of androgen,but the guideline does not suggesttesting for androgen in every case: “Wesuggest against testing for elevatedandrogen levels in women with isolatedmild hirsutism because the likelihood ofidentifying a medical disorder thatwould change management oroutcome is low.” Testing for elevatedandrogen levels should be reserved formoderate-to-severe cases, or for casesof any severity that are sudden inonset, rapidly progressive, or associatedwith menstrual irregularity, infertility,obesity, acanthosis nigricans, orclitoromegaly.

“Excess androgen production is mostoften caused by polycystic ovarysyndrome (PCOS),” the guideline notes.Dr. Martin said that PCOS is frequentlydiscovered because a patient presentswith hirsutism and that physicians’approach to PCOS has changed: “Weused to worry only about their cosmeticproblems (hirsutism and acne), theirirregular periods, and anovulatoryinfertility,” Dr. Martin said. Nowphysicians worry about the potentialmetabolic complications associatedwith PCOS. These women tend to beobese, most are insulin resistant, theyare at high risk for diabetes, and manyhave abnormal lipid profiles. “So we arealso worried about long-term risk ofcoronary heart disease in thesewomen,” she noted.

Treatment

The development of hirsutism dependsnot only on androgen concentrations,but also on the way an individual’s hair

follicles respond to the androgen, so theguideline says: “There are two mainapproaches to the management ofhirsutism, which may be used eitherindividually or in combination: (a)pharmacologic therapies that targetandrogen production and action, and(b) direct methods to reduce andremove hair including cosmeticapproaches, electrolysis, and photo-epilation (laser and intense pulsedlight).”

The meta-analyses’ findings on drugtreatments are of particular interest.Examining the value of anti-androgensrevealed “weak evidence (that) suggestsanti-androgens are mildly effectiveagents for the treatment of hirsutism.”Because of the association of hirsutismand PCOS’s diabetes risk, insulinsensitizers have often been used intreatment. But the other meta-analysisconcluded, “Imprecise and inconsistentevidence of low to very low qualitysuggests that insulin sensitizers providelimited to no important benefit forwomen with hirsutism.”

Hair Reduction Therapies

One area of the guideline thatendocrinologists may find particularlyhelpful is the description of cosmetictherapies for hair reduction. Mostpatients will try their own methods

such as plucking, waxing, and shaving,but if these are not satisfactory theymight want guidance on choosinglonger-lasting hair removal therapy. Theguideline notes that laser removal“appears to be superior to conventionaltreatments such as shaving, waxing, andelectrolysis.” The evidence that laserremoval is better than electrolysis isfairly thin, however. “Our suggestion touse laser over electrolysis places arelatively higher value on efficiency,convenience, and minimizing pain, and arelatively lower value on cost,” theguideline says, noting that patients whoplace a higher value on cost might wellchoose electrolysis over laser.

Patient Guide

In addition to the guideline aimed atphysicians, the task force created aconsumer-friendly patient guide. Thisguide concludes with a cautionary noteuseful to patient and physician alike that“hirsutism is usually an ongoingproblem. It can be managed, but maynot be permanently resolved.”

To view or order copies of this andother Endocrine Society clinicalguidelines, visit www.endo-society.org/publications/guidelines/index.cfm.The Hormone Foundation’s companionpatient guides, including one onhirsutism are available at www.hormone.org/Resources/patientguides.cfm.

Eric Seaborg is an award-winning writer living inCharlottesville, Va.

Members of the expert panel were: Kathryn A.Martin, M.D., R. Jeffrey Chang, M.D., David A.Ehrmann, M.D., Lourdes Ibanez, M.D., Ph.D.,Rogerio A. Lobo, M.D., Robert L. Rosenfield, M.D.,Jerry Shapiro, M.D., Victor M. Montori, M.D., andBrian A. Swiglo, M.D.

Reprinted with permission from EndocrineNews—complete article can be found athttp://www.endosociety.org/endo_news/endo_news_past.cfm (May 2008)

“There are two mainapproaches to

the management of hirsutism, whichmay be used eitherindividually or incombination...”

ARTICLE continued from page 1


News

DuoCort Gets Orphan DrugDesignation in the US for Treatment of Adrenal Insufficiency Helsingborg, Sweden, June 27, 2008—DuoCort PharmaAB, a privately held Swedish drug development company,today announced that the US Food and DrugAdministration (FDA) has granted an Orphan DrugDesignation for the company’s DuoCort™ hydrocortisonedual-release oral tablet in development for the treatmentof adrenal insufficiency—the inability of the body toproduce sufficient amounts of the essential hormonecortisol. Orphan drug designation will give DuoCort™market exclusivity in the US for seven years after theproduct attains marketing authorization.

"Current research confirms that conventional therapy issuboptimal and is not serving patients as well as it should.There is scope for improvement in the delivery of cortisolreplacement and we are convinced DuoCort™ will offer abetter treatment option for patients with adrenalinsufficiency and deliver better long-term outcomes,” saidDr. Gudmundur Johannsson, Chief Medical Officer ofDuoCort Pharma.

“Orphan designation in the US will facilitate thisdevelopment aimed at demonstrating the significantbenefit of cortisol replacement which effectively mimicsthe physiological diurnal release profile of cortisol in aconvenient once-daily tablet. The new DuoCort™ therapywill be the first real innovation for adrenal insufficiencypatients in over 30 years,” continued Dr. Johannsson.

The orphan-designated product is a novel, dual-release, oralhydrocortisone tablet in 5 mg and 20 mg dosage strengthscurrently in late stage clinical trials in Europe. DuoCort™will improve today’s cortisol replacement therapy with aonce-daily tablet that delivers a more physiological dose ofthe active substance, better mimicking the body’s owncortisol serum profile.

DuoCort™ 5 mg and 20 mg dual-release hydrocortisonetablets are currently undergoing a pivotal clinical PhaseII/III trial in Europe assessing the pharmacokinetics, safetyand tolerability of once-daily DuoCort™ in comparison toconventional thrice-daily oral hydrocortisone therapy inpatients with adrenal insufficiency. The trial commencedin August 2007 and is being conducted at five Universityendocrinology clinics. Data from the study is expected tobe available in the second half of 2008. With normalregulatory review and approval times, DuoCort™ could beon the market by 2010.

Orphan Drug legislation in the US provides incentives toencourage the development and marketing of medicinesfor rare diseases. Designation as an orphan medicinalproduct does not indicate that the product has yet fulfilledthe efficacy, safety and quality criteria required for drugmarketing. These remain to be fulfilled in thepharmaceutical and clinical development of the drug andassessed by the FDA at the marketing authorization stage. For more information, please contact: Greg Batcheller, CEO, DuoCort Pharma AB Telephone: +46 46 288 5008 E-mail: [email protected]

Fall Michigan Families CAH Gathering

An Afternoon of Bowling and

Casual Conversations

Date: Sunday, November 9th

Time: 2:00 pm to 4:00 pm

Location: An Ann Arbor Bowling

Alley (exact location TBD)

Contact:

Cathy Berrigan (734) 477-9992

[email protected] or

[email protected]

Some kind words…The following is a portion of an e-mail we received at CARES thanking us(and one of our support people in particular) for what we do. Helpingpeople through difficult situations makes what we do so gratifying.

I have a 5 1/2 year old son with SWCAH. About a month ago, we discoveredthat our son had been very badly under-dosed and had 5 1/2 year advancedbone maturity. In desperate need of help, I turned to the internet for helpand found CARES. This has been a Godsend. I wanted to let you know howmuch help we have received from Stephanie Erb. She has been absolutelyawesome! She has helped us over and over again. From getting us anappointment with a specialist to letting me call and e-mail anytime, andanswering any questions I have had. I just thought I'd let you know what ahelp she has been to us. I know in our busy lives, we don't pause long enoughto thank those that help us. I have told her many, many times how much shehas meant to our family. But I thought I'd pass this along and also thankeveryone at CARES for all that you do!!

Thank You Stephanie!


Personal Story

By Robbi ConverseWhen Keith was born, therewas no screening at birthfor congenital adrenalhyperplasia (CAH). The firstsign we had that somethingwas wrong was when hehad his first adrenal crisis atabout two and a half weeksold. That was followed byweeks in the hospital todiagnose and stabilize hiscondition. That wasfollowed by months of middle-of-the-night trips to the emergencyroom and years of wondering what the prognosis really was for ourlittle boy with salt-wasting congenital adrenal hyperplasia.

Were the doctors being completely honest with us? This was yearsbefore the internet was available for research, so we were left to learnwhat we could understand from medical books and trust the doctorsfor the rest. This is nothing unusual to parents of children with CAH.Wondering. Always wondering, what can my child’s life be? Whatwill his limitations be? I write this to encourage you that your child’slife, with managed CAH, can be whatever he or she desires it to be!

Keith received his pediatric endocrinology care at Emory UniversityMedical Center and what was then Egleston Children’s Hospital inAtlanta, GA. People travel from all over the world to see doctors atEmory and we were blessed enough to have it as our local hospital.However, even with their expertise in so many areas, their familiaritywith CAH was limited. As years passed, I never stopped seeking moreinformation on this disorder. When the internet became available, Iwould search and search for information, but with very little success.

Then came Google! Someone had told me about this search enginethat had reference to untold numbers of websites, so I typed in thatlong string of letters and waited (things were slow back in dial-updays)…five or so hits. I read them all and was disappointed that mostof the sites were just parents like me wanting more information. Iwould regularly visit various search engines and type those samethree words. One day when I tried it out, I thought surely I had typedsomething incorrectly…more than a thousand hits! I double checkedmy typing and it was correct—every hit was a site pertaining tocongenital adrenal hyperplasia. Somewhere in that list of sites, Icame across information on a CAH Natural History Study at theNational Institutes of Health (NIH) that receives funding supportfrom CARES Foundation. The day of Keith’s first visit to NIH for

evaluation was truly a turningpoint in his life. At NIH he hasreceived top notch treatment fromprofessionals who care about Keithas a person as much as they careabout their pursuit of moreinformation on his disorder.

Keith is 20 years old now…agrown man…and he is a race cardriver. You see, Keith was bornwith a passion for cars; farexceeding the normal little boyfascination with the machines. His

career path was sealed when he was in fifth grade and he attendedhis first Petit Le Mans at Road Atlanta in Braselton, Georgia. He toldus then that he knew he wanted to be a race car driver.

Just after his junior year in high school, he raised the money to travelto Spain where he attended Formula BMW’s licensing course (foropen-wheel cars) and, later that summer, worked to pay for thePanoz Racing School (for sports cars) in Georgia. I’m not sure whatmost graduates spend their monetary graduation gifts on, but Keithspent his on racing gear. Along the way, the whole family caught thefever and we all work hard to assist Keith (and other young drivers)to acquire sponsorship to help them pursue their goal of a career asa professional race car driver through our family business, AmericanPatriot Motorsports.

Of course we have concerns regarding his medical care should hebe in an accident, but we always communicate his medicalrequirements to the racing and medical personnel at each race.Sure, we worry about him. Racing can be a dangerous sport, but Idon’t think we worry any more than the parents of any other racingdriver. We are confident that if he were to have an accident, hewould receive the medical care that he requires. Other than that, wemarvel that this young man who was so weak and helpless when hewas first diagnosed has achieved so much more in his twenty yearsthan most of us will achieve in a lifetime.

So, what can your child’s life be with managed CAH? Whatever heor she is willing to work hard to make it!

For more information about the NIH Natural History Study:Carol VanRyzin • [email protected] • 301-451-0399

For more information about Keith and American PatriotMotorsports, write to: American Patriot Motorsports, LLCP.O. Box 1096, Grayson, GA 30017Or e-mail: [email protected]

From the Emergency Room to the Race Track

In Brazil, neonatal screening started inthe 70’s, and in the year 2001 the PublicNeonatal Screen Program was created.This program found that the number ofscreened newborns presented a widevariation depending on the state, as wellas, the date of the blood samplecollections. At the present time, mostBrazilian states are performing screeningfor hypothyroidism and phenylketonuria(phase I of the national screeningprogram), some performing tests forhypothyroidism, phenylketonuria andhemoglobinopaties (phase II), and a feware in phase III, which includes tests forthe abovementioned diseases and forcystic fibrosis. However, screening forCAH is not mandatory in Brazil, andgenerally is done in private laboratories.

Analysis of CAH patient cohort from theHospital das Clínicas in Sao Paulo state(the largest referential medical center inBrazil), evidenced that the salt wastingform comprises only 50% of cases withthe severe form; and surprisingly, nomore than 20% of patients are males.These data indicate that due to theabsence of neonatal screening in SaoPaulo, patients with salt wasting formare probably dying in the neonatalperiod, mainly of the male sex. Despitethe abnormalities of external genitalia atbirth in females, which could be easilyidentified by clinical examination, weidentified 13 girls presenting sexassignment errors at birth, and in half ofthem, the CAH diagnosis was performedtoo late to permit the correction ofsocial sex.

To my knowledge, there are only twostates in Brazil performing CAHscreening with their own resources,namely Goias and Santa Catarina.

Advocacy


Newborn Screening Update in BrazilTânia Sanchez Bachega, MD, PhD

Professor of EndocrinologySao Paulo University

EndocrinologistHospital das Clínicas

Sao Paulo-Brazil

Nowadays, approximately 90% of thelive-births are screened for CAH inGoias. Recently published data (Silveiraet al, JPEM 2007) revealed the CAHincidence in 1:10,300 live-births inGoias and demonstrated the neonatalscreening benefits, in increasing thefrequency of the salt wasting formdiagnosis and also of the number ofmales diagnosed. However, it wasobserved that the samples werecollected mainly at 3 to 7 days of life,but some of them were collected after15 days of life, which could be late forthe salt wasting form diagnosis.

These data demonstrated that the CAHscreening should be considered to beincluded in the public neonatalscreening program in Brazil. Moreover, itis also important to create timelyeducational programs for pregnantwomen and pediatricians, explainingthe importance of neonatal screeningand the need for precocious samplecollection. When there is a publicneonatal screening program, the cost ofCAH test inclusion represents additionalUS $9.00/test in Brazil, which is notexpensive. The costs should not beevaluated considering only the filter-paper measurements, but should beconsidered in evaluating the number ofdeaths avoided, reducing hospitalization

time and improving life quality, whichis priceless.

If you are interested in learning moreabout newborn screening in Brazil

and how you can help, please contact

Brazil CARES Support Group LeaderIsabel Wagner at (552) 126-19-3423 [email protected].

?Se você está interessado em obter maisinformações sobre triagem neonatal noBrasil e como poderia ajudar, por favor,entre em contato com Isabel Wagner,responsável pelo Grupo de Apoio ePesquisa de Pacientes com HiperplasiaAdrenal Congênita—CARES, (tel: (21)2619-3423; mobile: (21) 9138-6798;email: [email protected].)?

Acknowledgments:Professor Berenice B. Mendonca M.D. (FullProfessor, Division of Endocrinology, School ofMedicine, University of Sao Paulo), ElianeSantos (APAE-Goias Screening NeonatalProgram), Elizabeth Silveira M.D. (Rio Grandedo Sul University), Giselle Y. Hayashi (APAE-SaoPaulo Screening Neonatal Program).

Presidential Candidates’Health Care Proposals andPositions on ScienceAs we try to decide how to votein the upcoming presidentialelection, the following side-by-side comparison may help you tobetter understand the candidates’health care proposals: www. health08.org/sidebyside.cfmFor information on their positionsrelated to science, genetic testing,and stem cell research, pleasevisit:www.sciencedebate2008.com/www/index.php?id=42.


Advocacy

Newborn ScreeningExpansion InitiativesAround the WorldGO CANADA! On July 3, 2008, BritishColumbia Premier Gordon Campbellofficially announced the expansion ofnewborn screening in his provincefrom 6 to 19 conditions includingtesting for CAH. Thank you to allCARES’ members, especially DianaAspen, and our advocacy partnersacross Canada who worked so hard onthis initiative. It is through your voicesthat this has been made possible.

While we are celebrating the inclusionof CAH in the newborn screeningprograms of Alberta, British Columbia,Manitoba, Northwest Territories,Nunavut (West), Ontario and YukonTerritory, the campaign for newbornscreening expansion goes on in otherCanadian provinces.

PROGRESS IN THE UK This June,principals involved with the UnitedKingdom’s Newborn Blood SpotScreening Programme met to discussadding testing for CAH to thecountry’s screening panel. Inanticipation thereof, CARES submitteda letter strongly encouraging theimplementation of universal,comprehensive newborn screeningincluding testing for CAH in the UK,but also expressing some concernsrelated to the inclusion of screeningfor CAH under current testingprotocols. Current UK NewbornScreening Programme Centre guide-lines call for blood spot samples to be“taken on day 5 and certainly betweenday 5 and day 8 for all babies.” Whilesome specialists may feel newbornscreen results by day 16 of life may begood enough—at least receipt ofresults would coincide with crisis—CARES has made it clear that this willbe too late. We expect the full panel

(including CAH) will go to theNational Screening Committee inOctober.

IN AUSTRALIA, the fate of newbornscreening appears to be in the handsof the masses. While we thoughtexpanded screening was going to beimplemented by the end of this year,the word we are receiving now is thatonly a pilot program is going to berun and even its start date is unclear.We are in desperate need of yourstories and voices to bring attentionto the plight of hundreds of babiesborn in Australia each year who aredying unnecessarily due to thecountry’s failure to screen for CAH.

If you are interested in joining thecampaign for expanded screening inCanada (especially our next target:Quebec), the UK, Australia or Brazil,please contact Gretchen Alger Lin [email protected].

Online GINA ResourceEarlier this year we celebrated thepassage of the Genetic InformationNon-discrimination Act (GINA) whichprohibits discrimination on the basisof genetic information by healthinsurers and employers. Genetictesting is particularly important infamilies with a history of CAH astesting in the parents allows for earlydetection and treatment in the child.GINA prevents insurers fromdropping coverage or charging higherrates for families known to carrymutations for CAH. It also prohibitsemployers from making decisionsrelated to hiring, firing, promotions ortraining based on your CAH status.Thanks to the Coalition for GeneticFairness, there is now an online guideto GINA, “What Does GINA Mean? AGuide to the Genetic InformationNondiscrimination Act.” This tool

provides a functional outline ofGINA’s protections and how thelegislation impacts every individual inthe nation as well as hypotheticalsituations of genetic discriminationand key examples. To view theresource, please visit:

www.geneticfairness.org/ginaresource.html.

Newborn ScreeningPrograms Under FireThis past July, CARES Foundationcelebrated the fact that as of 2008every baby in the United States isbeing tested for CAH at birth. Amonumental achievement, especiallyconsidering that a mere seven yearsago barely half of all states werescreening for CAH! With theeconomic turmoil facing our countryand state budgets in dire straights,however, there has been no chance

to rest on our laurels. In Septemberwe received word that both theGeorgia and Virginia newbornscreening programs were facingpossible budget cuts that would affectthe timeliness of diagnosis and follow-up once a child was identified ashaving a condition tested for by thosestate’s programs. CARES membersand our advocacy partners across thenation have fought so hard to ensureno family has to face the physical,emotional or financial trauma of aCAH-affected child going undiagnosedat birth. The fight, however, goes on!CARES Foundation will continue, asalways, to monitor the programs ofevery state in our nation. If we sendyou an email asking for your supportin the face of changes to your state’snewborn screening program, wehope you will add your voice to oursto make sure every baby in our nationreceives a healthy state at life.

2008 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES newsletter content, including by framing or similar means, is prohibited without prior written consent of CARES Foundation

Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken to be the provision or practice of medical, nursing orprofessional healthcare advice or services. The information should not be considered complete or exhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcareprovider. You should not use the information in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physician or healthcare provider.The articles presented in this newsletter are for informational purposes only and do not necessarily reflect the views of CARES Foundation, Inc.


Fundraising

Thanks to the wonderful work of our community, over $83,000 has been raisedto date through the 2008 No-Sweat Run for a Cure! Donations continue to comein for CAH research, education and support, but the team competition for prizesended on Friday, October 3rd. Congratulations to all of our teams—you whohave made great strides in advancing our mission. Thank you for taking time outof your busy lives to make a difference!

Join us in congratulating the 2008 No-Sweat Run for a Cure prize winners:

HIGHEST FUNDRAISERS:Kimura/Ohana Team—raised $8,616 David Yurman earringsPaulson/Schauer Team—raised $3,104 Apple iPod Nano

GREATEST NUMBER OF DONORS:Team Racin’ Jason—39 donors ($2,922) Designer LuggageKenny’s Krusaders—29 donors ($2,564) $100 Bed Bath & Beyond gift card

BIGGEST IMPROVEMENT OVER LAST YEAR:Team Elise raised $1,535 during No-Sweat 2008 versus $1,050 in 2007—a 32% increase! Sterling Picture FrameAnd though they didn’t qualify for the team competition prizes, several CARESFoundation board members deserve special recognition for leading outstandingteams and making tremendous contributions to our total: Jessica Upchurch ($11,762)Kelly Leight ($8,122)Diane Snyder ($4,261)Greg Kraff ($3,097)

No-Sweat 2008Thanks to all of the (over 60!)families who took part in thisyear's Run and made it awonderful success!

If you didn't have theopportunity to take part butwould like to do your part,there are many, many waysyou can make a difference.Consider hosting a bake sale,an election party with a $20cover donation to CARESFoundation, a Halloweencelebration where your gueststreat CARES Foundation to amonetary goodie, or a fund-raiser of your own creativity.

Though CARES Foundationruns fundraising campaigns atcertain points of the year,programs and services to theCAH community are provided365 days a year, and only withthe support of our memberfamilies.

We're counting on YOU tocare about our community.

If you need any help gettingstarted, we are here to help!Please contact Ellie Avitan,Development Director, [email protected].

2008 NO SWEATRUN FOR A CURE

Results!

HIRSUTISM in PREMENOPAUSAL - Cares Foundation · important hirsutism” as an innovative...

Documents

Transcript of HIRSUTISM in PREMENOPAUSAL - Cares Foundation · important hirsutism” as an innovative...