Great Strides Against Rare Diseases whitephrma-docs.phrma.org/sites/default/files/pdf/great... ·...
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Great Strides Against Rare Diseases What are Rare Diseases? Although rare diseases each may individually only impact a relatively small number of patients, generally defined as less than 200,000 in the United States, their impact on public health is far-reaching. 1 Rare diseases affect 30 million Americans – about 1 in 10 – but many may go undiagnosed or misdiagnosed. 2 Approximately 7,000 different rare diseases are known today, 3 with likely many more still to be identified, and 80% of rare diseases are genetic in origin. 4 Although they affect many people in aggregate, much remains unknown about the underlying causes and the clinical course of many individual rare diseases. Even within a particular rare disease there can be many variations or subtypes resulting in different clinical manifestations and disease progression. Additionally, 85% to 90% of rare diseases are serious or life threatening. 5 Advancing New Treatment Options for Patients Developing medicines to treat rare diseases is particularly challenging. The underlying biological mechanisms of the disease are often extremely complex, making it difficult to design and implement research and development strategies. Additionally, due to the inherently small population of patients with a rare disease, recruiting for and conducting clinical studies can be very difficult. Despite these challenges, America’s biopharmaceutical researchers have leveraged new technologies and the growing scientific understanding of many rare diseases to develop groundbreaking therapies over the past ten years. Key regulatory provisions, like the Orphan Drug Act (ODA), have been integral in spurring innovation by providing market exclusivity, tax incentives, and user fee waivers that help facilitate the development of treatments for diseases affecting a small patient population, where the costs of developing the drug may not be recouped by sales of the approved medicine. 6,7 The ODA has been regarded as a tremendous success; since the passage of the ODA in 1983, the FDA has approved more than 500 orphan drugs. In contrast, the FDA approved fewer than 10 medicines for rare diseases in all of the 1970s before the ODA was passed. 8 Harnessing Innovation in Rare Disease Treatment: 2015 Advances In 2015, several key treatment advances became available for patients with rare diseases. In fact, nearly half (47%) of novel new drugs approved in 2015 at FDA’s Center for Drug Evaluation and Research (CDER) were for rare diseases. 9 This is a noteworthy uptick, given that over the last five years an average of just over 35% of FDA new drugs approvals each year were for rare diseases. 10 CDER noted that for the second consecutive year, FDA approved more drugs to treat rare diseases than any previous year in history. 11 The new medicines help patients with a variety of metabolic and genetic disorders, including difficult to treat forms of high cholesterol, and cystic fibrosis, as well as several cancers, including non-small cell lung cancer, thyroid cancer, multiple myeloma, and melanoma. 12 Many of the new medicines offer treatment options where there were few or none previously available. Additionally, among the novel new medicines approved in 2015 for rare diseases, 38% (8 of 21) were first-in-class treatments, representing entirely new ways for treating disease. 2015: BANNER YEAR FOR RARE DISEASES 47% of new drug approvals were for rare diseases 8 first-in-class treatments, representing entirely new ways for treating disease 11 new cancer therapies 5 new medicines for pediatric patients New treatments for cystic fibrosis, difficult-to-treat high cholesterol, and several enzyme deficiency disorders 1 Source: U.S. FDA. “Novel Drugs Summary 2015.”
Transcript of Great Strides Against Rare Diseases whitephrma-docs.phrma.org/sites/default/files/pdf/great... ·...
Great Strides Against Rare Diseases
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What are Rare Diseases?Although rare diseases each may individually only impact a relatively small number of patients, generally defined as less than 200,000 in the United States, their impact on public health is far-reaching.1 Rare diseases affect 30 million Americans – about 1 in 10 – but many may go undiagnosed or misdiagnosed.2
Approximately 7,000 different rare diseases are known today,3 with likely many more still to be identified, and 80% of rare diseases are genetic in origin.4 Although they affect many people in aggregate, much remains unknown about the underlying causes and the clinical course of many individual rare diseases. Even within a particular rare disease there can be many variations or subtypes resulting in different clinical manifestations and disease progression. Additionally, 85% to 90% of rare diseases are serious or life threatening.5
Advancing New Treatment Options for PatientsDeveloping medicines to treat rare diseases is particularly challenging. The underlying biological mechanisms of the disease are often extremely complex, making it difficult to design and implement research and development strategies. Additionally, due to the inherently small population of patients with a rare disease, recruiting for and conducting clinical studies can be very difficult.
Despite these challenges, America’s biopharmaceutical researchers have leveraged new technologies and the growing scientific understanding of many rare diseases to develop groundbreaking therapies over the past ten years.
Key regulatory provisions, like the Orphan Drug Act (ODA), have been integral in spurring innovation by providing market exclusivity, tax incentives, and user fee waivers that help facilitate the development of treatments for diseases affecting a small patient population, where the costs of developing the drug may not be recouped by sales of the approved medicine.6,7 The ODA has been regarded as a tremendous success; since the passage of the ODA in 1983, the FDA has approved more than 500 orphan drugs. In contrast, the FDA approved fewer than 10 medicines for rare diseases in all of the 1970s before the ODA was passed.8
Harnessing Innovation in Rare Disease Treatment: 2015 AdvancesIn 2015, several key treatment advances became available for patients with rare diseases. In fact, nearly half (47%) of novel new drugs approved in 2015 at FDA’s Center for Drug Evaluation and Research (CDER) were for rare diseases.9 This is a noteworthy uptick, given that over the last five years an average of just over 35% of FDA new drugs approvals each year were for rare diseases.10
CDER noted that for the second consecutive year, FDA approved more drugs to treat rare diseases than any previous year in history.11 The new medicines help patients with a variety of metabolic and genetic disorders, including difficult to treat forms of high cholesterol, and cystic fibrosis, as well as several cancers, including non-small cell lung cancer, thyroid cancer, multiple myeloma, and melanoma.12 Many of the new medicines offer treatment options where there were few or none previously available. Additionally, among the novel new medicines approved in 2015 for rare diseases, 38% (8 of 21) were first-in-class treatments, representing entirely new ways for treating disease.
2015: BANNER YEAR FOR RARE DISEASES
47% of new drug approvals were for rare diseases
8 first-in-class treatments, representing entirely new ways for treating disease
11 new cancer therapies
5 new medicines for pediatric patients
New treatments for cystic fibrosis, difficult-to-treat high cholesterol, and several enzyme deficiency disorders
1Source: U.S. FDA. “Novel Drugs Summary 2015.”
Multiple MyelomaTwo of the first-in-class medicines approved in 2015 were for treating multiple myeloma, a rare form of bone marrow cancer that occurs in infection-fighting white blood cells.14,15 Through different mechanisms, both new forms of treatment help activate the body’s own immune system to attack the cancerous cells and have showed significant clinical impact by reducing the size of tumors. In addition to the two first-in-class medicines approved in 2015, two additional multiple myeloma treatments also became available in 2015, providing important new treatment options for patients.16
Cystic FibrosisIn recent years, great advances have been made in the treatment of cystic fibrosis in highly targeted patient populations based on the genetic mutation that causes their disease, enabling patients to target the underlying cause of their disease rather than just the symptoms. In 2015, a first-in-class treatment became available for patients with the mutation (F508del) that is known to be the most common cause of cystic fibrosis.17 In patients with cystic fibrosis, there is a buildup of thick mucus in the lungs, digestive tract, and other parts of the body, leading to severe digestive and respiratory problems. This new medicine represents a major advance for patients and, as noted by the FDA, “significantly broadens the availability of targeted treatments for the specific defects that cause cystic fibrosis.”
Pediatric Treatment AdvancesThe FDA approved several new medicines for pediatric patients in 2015, including many for patients who previously lacked treatments. This year’s approvals are providing important treatment options for a variety of rare diseases that affect this particularly vulnerable population.
The first therapy ever for the treatment of a rare, progressive, metabolic disease called hypophosphatasia (HPP) was
approved by the FDA in 2015.18 This genetic condition affects 1 in 100,000 newborns in its most severe form and is characterized by defective bone mineralization that can lead to softening of the bones and skeletal abnormalities. HPP patients who took this new medicine had improved survival and also demonstrated improvements in bone growth and health.
Another notable pediatric advance was the approval of a new treatment for children with high risk neuroblastoma, a rare form of cancer that occurs in nerve cells and the brain.19 CDER’s Office of Hematology and Oncology Products noted that the medicine “fulfills a critical need by providing a treatment option that prolongs survival in children with high-risk neuroblastoma.”
In 2015 the first therapy for the treatment of a rare inherited genetic disease called lysosomal acid lipase (LAL) deficiency was approved.20 Patients with LAL deficiency have little or no activity of the enzyme that prevents the buildup of fats in within cells, leading to liver and cardiovascular disease. The disease often presents itself during infancy and progresses really rapidly. The new medicine helps replace and replenish the deficient enzyme. Dr. Janet Woodcock, Director of CDER remarked of the significance of the approval, remarking, “These patients for the first time ever have access to a treatment that may improve their lives and chances of survival.”
FDA granted approval for the first treatment ever for an ultra-rare, inherited metabolic disease called hereditary orotic aciduria (HOA).21 Patients with HOA are unable to produce ribonucleic acid as a result of an enzyme deficiency, resulting in developmental delays, blood cell abnormalities, and urinary tract obstructions. This new medicine demonstrated the ability to help patients maintain stability in a variety of hematologic blood parameters, an important measure of disease progression.
These patients for the first time ever have access to a treatment that may improve their lives and chances of survival.
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Dr. Janet WoodcockDirector of the Food and Drug Administration’s Center for Drug Evaluation and Research
2015 was an important year for patients with rare bile acid synthesis disorders. The FDA approved the first treatment for patients with a handful of related genetic, metabolic disorders that result in the inability to produce an important enzyme that is essential for bile production in the liver from cholesterol.22 Without the enzyme, patients experience liver damage and malabsorption of fats and vitamins in the liver. With the new medicine, patients experienced improved liver function and longer survival.
Celebrating Rare Disease Day: Spurring Continued Innovation for PatientsWe’ve seen incredible advances in the development of medicines to treat patients with rare diseases. Despite this progress, there remains substantial unmet need for patients, as only 5% of rare diseases today have available treatment options.23 The biopharmaceutical industry is committed to
advancing new medicines for patients with rare diseases and the pipeline has never been more promising. There are more than 450 medicines currently in development for rare diseases.24 Unprecedented scientific potential makes this a promising time for many patients with rare diseases. Maintaining incentives for research and development into these complex and challenging disease areas is critical in order to bring new medicines to patients.
More on Progress Against Rare DiseasesA recent PhRMA report, A Decade of Innovation in Rare Diseases, examines the significant progress made over the past decade (2005-2015) across a broad range of rare diseases, where new treatment options are having a tremendous impact for patients. Find out more at: http://www.phrma.org/sites/default/files/pdf/PhRMA-Decade-of-Innovation-Rare-Diseases.pdf
Rare diseases affect
30 MILLION
different rare diseasesexist today
7,000
AMERICANSTHAT’S 1 IN 10
Approximately
The FDA has approved more than
since the passage of the Orphan Drug Act500 ORPHAN DRUGS
In the last 5 years, an average of more than
Approved treatments are available for
ONLY 5%of all rare diseases
There are more than
560 MEDICINESin development forRARE DISEASES
35% OF ALL NEW DRUG APPROVALS WERE FOR RARE DISEASES
In 2015 alone,47% 47%
of new drug approvalswere for rare diseases
RARE DISEASES BY THE NUMBERS
Source: Global Genes
Source: Global Genes
Source: Global GenesSource: Global Genes
Source: U.S. FDA
Source: U.S. FDA
Source: U.S. FDA Novel New Drug Summaries (2011-2015); calculated average from each report’s data.
Source: PhRMA, Medicines in Development for Rare Diseases, 2016
80%of rare diseases aregenetic in origin
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Endnotes 1 U.S. National Institutes of Health, National Human Genome Research Institute. “FAQ About Rare Diseases.” http://www.genome.gov/27531963. 2 Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/. 3 Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/. 4 Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/. 5 U.S. Department of Health and Human Services. “Fiscal Year 2017: Food and Drug Administration Justification of Estimates for Appropriations Committee.” http://www.fda.gov/
downloads/AboutFDA/ReportsManualsForms/Reports/BudgetReports/UCM485237.pdf. 6 U.S. Food and Drug Administration (FDA). “Orphan Drug Act, Relevant Excerpts.” http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/
HowtoapplyforOrphanProductDesignation/ucm364750.htm. 7 U.S. FDA. “Orphan Drug Act.” http://www.fda.gov/regulatoryinformation/legislation/significantamendmentstothefdcact/orphandrugact/default.htm. 8 U.S. FDA. “Orphan Drug Product designation database.” Accessed February 16, 2016. http://www.accessdata.fda.gov/scripts/opdlisting/oopd/ 9 U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf. 10 U.S. FDA Novel New Drug Summaries (2011-2015); calculated average from each report’s data.11 Jenkins, J. “2015: Another Strong Year for Patients in Need of New Drug Therapies.” U.S. FDA. http://blogs.fda.gov/fdavoice/index.php/2016/01/2015-another-strong-year-for-
patients-in-need-of-new-drug-therapies/. 12 U.S. FDA “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.13 U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.14 U.S. FDA. “FDA approves Darzalex for patients with previously treated multiple myeloma.” November 16, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm472875.htm. 15 U.S. FDA. “FDA approves Empliciti, a new immune-stimulating therapy to treat multiple myeloma.” November 30, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm474684.htm. 16 U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.17 U.S. FDA. “FDA approves new treatment for cystic fibrosis.” July 2, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm453565.htm. 18 U.S. FDA. “FDA approves new treatment for rare metabolic disorder.” October 23, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm468836.htm. 19 U.S. FDA. “FDA approves first therapy for high-risk neuroblastoma.” March 10, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm437460.htm. 20 U.S. FDA. “FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients.” December 8, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm476013.htm. 21 U.S. FDA. “FDA approves new orphan drug to treat rare autosomal recessive disorder.” September 4, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/
ucm457867.htm. 22 U.S. FDA. “FDA approves Cholbam to treat rare bile acid synthesis disorders.” http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm438572.htm. 23 Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/.24 PhRMA. “Decade of Innovation in Rare Diseases.” 2015. http://www.phrma.org/sites/default/files/pdf/PhRMA-Decade-of-Innovation-Rare-Diseases.pdf.
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