TREAT-NMD Global Registries Landscape Hugh · age at scoliosis and surgery, treatment...
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1 | TREAT-NMD Current landscape of TREAT-NMD SMA registries TREAT-NMD Alliance Biogen SMA Registry Development Meeting Amsterdam 8 th -9 th May 2017 Professor Hugh Dawkins Data Steward, Australian Neuromuscular Diseases Registry (ANMDR) Chair, ANMDR Advisory Group Past Chair, TREAT-NMD Global Data Oversight Committee Member, TREAT-NMD Alliance Executive Committee
Transcript of TREAT-NMD Global Registries Landscape Hugh · age at scoliosis and surgery, treatment...
1| TREAT-NMD
Current landscape of TREAT-NMD SMA registries
TREAT-NMD Alliance
Biogen SMA Registry Development Meeting Amsterdam
8th -9th May 2017
Professor Hugh DawkinsData Steward, Australian Neuromuscular Diseases Registry (ANMDR) Chair, ANMDR Advisory GroupPast Chair, TREAT-NMD Global Data Oversight CommitteeMember, TREAT-NMD Alliance Executive Committee
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Take home message• TREAT-NMD funded under FP6 to accelerate clinical trials
into NMD through trial ready patient registries • A global network of national registries that has successfully
helped Pharma and Biotech companies trial design and recruitment
• Embodies a culture of trust that works transparently with patients, industry, clinicians, academics using privacy preserving approaches for NMD familes to access best care
• Has the infrastructure and proven track record to be able to help Pharma and Biotech meet regulatory requirements of post marketing jurisdictionally and internationally.
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BioBank
Patient Registries
Care & Trial Site Registry
Outcome Measures
Standards ofDiagnosis &
CareTACT
Website & Communications
Joint Research
Standard Operating
Procedures
Threeyearworkplan
www.treat-nmd.eu
ActionPlan
3yearplan
Milestone-drivenapproach
Maintainsnetworkmomentum&establishnew
goals
Website&Communication
Extensivewebsite
250,000annualpagehits
70,000visitorsannually
Monthlynewslettersentto3,500recipients
Provencommunicationplatform
Secretariat- KateBushbyVolkerStraub
Funding– EC(operatinggrant)
TACT
TREAT-NMDAdvisoryCommitteeforTherapeutics,
Expertmultidisciplinarybody
Independentandobjectiveguidanceonadvancingnewtherapiesforneuromuscular
diseases
Chair– DominicWells
Funding- US(Dept ofDefense)
Jointresearch
Regularmeetingstoconsolidateeffortsandjointlytacklecommon
problems
Topicsbasedonnecessity,hostingtoberotated
betweenpartners
Leads- EricHoffmanAnnemieke Aartsma-Rus
FilippoBuccella
Funding- COST
SOPs
Unifiedexperimentalprotocolsimprovethe
comparabilityofstudies
Drawnupbyagroupofindependentresearchers(listedineachprotocol)
Approx 40sopsupdatedregularly
EuroBioBank
Uniquenetworkof18members
Stores&distributes440,000qualityDNA,cellandtissue
samples
Leads- MarinaMoraLuciaMonacoMarcoCrimi
Funding- FondazioneTelethon
PatientRegistries
Standardizedgenetic&clinicalcoredatafortrial
recruitment
Interfacecanvarybetweencountrieswhilststillableto
sharecoredata
Ethical&governancebestpractice
>10,000DMDpatientsacross30countries
Chair - NathalieGoemansViceChair- CraigCampbellPastChair-HughDawkins
Funding- AFM&EC(operatinggrant)
Care&TrialSiteRegistry
Informationabouteachregisteredtrialsitekeptinonelocationforeaseof
comparison
Addressesorganisationaldifficultiesofidentifyingappropriatesiteswhen
settingupatrial
CoordinatedbyUniversityMedicalCenter Freiburg
Outcomemeasures
Teststodecidewhethertreatmentbeingtestedina
trialishavinganyeffect
Vitaltousethecorrectoutcomemeasuretoproveif
atreatmentworks
Workingtoharmonisetheuseofmostappropriateoutcomemeasuresfor
differentdiseases
Lead- EugenioMercuri
Funding- Telethon&ParentOrganizations
StandardsofDiagnosis&Care
Internationalconsensuspublicationrecommended
standardsofcare
DMD-SMA-CMD-LGMD
Familyguidesin25differentlanguages
translationsverified
Printedbookletsordownloadfromwebsite
Leads- ThomasSejersenKathyNorth
2007-2011EUfundedNetwork
2012onwardsAlliancefunded
throughmultiplestreamswithglobal
partners&membership
GovernanceChair– KevinFlanigan
PastChair– AnnemiekeAartsma-Rus
ExecutiveCommitteeSupportedbyacademicadvisory
board(“taskforce”)ofNMDleaders
HowdoestheGlobalRegistrywork?
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
ClinicianEntered PatientEntered
Oracombination
NationalSMA/DMDregistry
GlobalRegistry
HighlyEncourageditems
GlobalRegistrySteroid
status
Cardiacmedication
use
Gastric/nasalfeeding
PersonalDataSex,Name,contact,
DOB
Involvementinclinicaltrials
GeneticTestResultsMutationname
followingHGVSrules
Clinicaldiagnosis
WheelchairUse
AmbulationStatus/
Bestmotorfunction
ScoliosisSurgery
PersonalDataSex,Name,contact,DOB
Involvementinclinicaltrials
GeneticTestResultsMutationname
followingHGVSrules
Clinicaldiagnosis
WheelchairUse
AmbulationStatus/
Bestmotorfunction
ScoliosisSurgery
FamilyHistory
PulmonaryFunction
VentilationStatus
SMAClassification
SMN2Copies
Otherregistry
CardiacVentilationStatus/
Pulmonary
FamilyHistory
Sittingwithoutsupport
MuscleBiopsy
Otherregistry
DMDMandatory SMAMandatory
GlobalSMARegistry
SMA
AllNMD DevelopingallNMD
DevelopingSMA
48nationalSMAregistries
EuropeanSMARegistry
SMA
AllNMD DevelopingallNMD
DevelopingSMA
Globalregistryenquiries
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
NationalSMA/DMDregistry
GlobalRegistry
TREAT-NMDrequestsData
NationalregistryreturnsData
Enquiryreceivedfromindustryoracademia
TGDOCVote
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An example from the global SMA registry – Feasibility Enquiry
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Registries audit: 2016/2017TREAT-NMD Alliance
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Mandatory Data items54 registries completed the audit
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Highly encouraged data items
SMA
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49%
17%
14%
10%
6%4%
Excel / Access Custom Other RDRF REDCAP Alta voice
Which IT System is used?-across all registries
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• 30 registries• 3 were from All Neuromuscular
SMA respondents
SMA-Countrieswhoresponded
BelgiumNetherlandsSwitzerlandDenmarkUKFinlandGermanyAustria
BulgariaCzechRepublicMacedoniaRussiaUkraine
PolandCroatiaSerbiaSloveniaHungary
ArgentinaColumbiaBrazil
Mexico
Canada
China
Egypt
India
AustraliaNew Zealand
TurkeyAlgeria
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What type of organisation runs the National SMA registry?
Medical 8
Academic 7
Patient Organisation (PO) 5
Academic & Medical 3
Academic, Medical & PO 3
Institute of public Health 1
Medical, PO & genetic lab 1
Genetic Lab 1
Did not specify 1Total 30
0
1
2
3
4
5
6
7
8
9
Medical Academic Patient Organisation
(PO)
Academic & Medical
Academic, Medical & PO
Institute of public Health
Medical, PO & genetic lab
Genetic Lab Did not specify
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Who enters the data? SMA
Patients only 2Patients and professionals 2Professionals only 24No response 2
Total 30
6%
7%
80%
7%
Who enters the data?
Patients only Patients and professionals Professionals only No response
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17 SMA registries collect additional data…
Age, type and complication of steroids, scoliosis (yes/no), loss of gait, densitometría osea, fractures, Bifosfonatos, additional diagnosis, carrier study of the mother
Activlim scale, for all neuromuscular diseases
Ambulation status, wheelchair use, steroid intake
Living status (living independently, with a parent etc.); age at onset; first symptoms; diagnosis (nerve biopsy, muscle biopsy, EMG, clinical, genetic test), upper extremity function, tissue samples provided (type and lab location), airway interventions (cough assist, breath stacking, chest physiotherapy, oral suctioning and frequency of use), sociodemographic, community servicesCreatine kinase, etc
Quality of life questionnaire
SMA: QOL DMD: QOL DM: Epworth, SF MPQ (pain), pain localizer, SF36, I-PSS urinary symptoms, depression scale FSHD: Epworth, SF MPQ (pain), pain localizer, SF36, depression scale
Yes did not specify
Yes did not specify
A unique patient identifier called NHI
Demographic data
Patients asked to fill out questionnaire regarding their: underwent therapies, different diagnostic procedures
Cognitive status in DMD and SMA
Gastroenterological items, endocrinological items, bone densityDMD: age at diagnosis, age at first signs, familiy history, first CK, age at sitting/walking, diagnostic circumstances, age at scoliosis and surgery, treatment (pharmacologic and physical therapy), weight, genetic. SMA: approximatively the sameFor research base quality of life
Surgery, scoliosis, age of milestones of functions, exon deletions in 7, 8, 5, taking part in CTs
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Other info (SMA) • All but 2 (India and Algeria) ask for patient consent• All but 2 update the data at least annually• 19 use Microsoft software (Excel 16) (Access 3)• The only other common systems are is REDcap (3) and
RDRF (2)
