Tackling the Hurdles in Drug Development for Rare Disease Patients

Addressing drug development challenges that are unique to patients with rare diseases

BY Kemi Olugemo, MD Senior Medical Director, Global Therapeutic Head CNS, Parexel - 11.4.19 -

Zizi Imatorbhebhe, MBA MS PMP® Senior Director Integrated Solutions, and Kemi Olugemo, MD Senior Medical Director, Global Therapeutic Head CNS share their insights on tackling hurdles to developing treatments for patients with rare diseases in this blog post. 

A Rare Disease is a disorder affecting a small fraction of the population compared with other prevalent diseases (Richter 2015). A significant number of rare diseases are severe, progressive, life-threatening or chronically debilitating.

There are 7,000 known rare diseases affecting an estimated 350 million people worldwide (The Global Genes Project, 2015).  Most rare diseases are genetic in origin, and a large proportion (65-75%) of rare diseases have their onset in childhood. 
Only 5% of rare diseases have effective treatment, hence there is a huge unmet need in this area.  The US Food and Drug Administration (FDA) and the European Union (EU) define a drug or biologic intended to treat a rare disease or condition as an Orphan Drug.

Rare disease clinical trials face many challenges, some of which include: 

  • Small populations with limited opportunity for study participation and replication of results in clinical trials;
  • Heterogeneous manifestation of disease and phenotypic presentations;
  • poorly understood disease and pathophysiology; on average a rare disease patient visits seven specialists, and a correct diagnosis can take as long as 5-8 years; and
  • lack of consensus on clinical outcome measures and poorly defined endpoints.

The last two years (2017 and 2018) have brought the greatest number of “Orphan Drug” approvals seen so far.  In those two years alone over 40% of all approved drugs received an orphan designation from at least one of the major agencies.  In 2017, the FDA granted orphan drug designation to over 429 unique drugs under development.  That same year, 46 new orphan drugs were approved by the FDA, and in 2018, the Agency approved 59 orphan drugs. 

A number of breakthrough therapies have recently been introduced for diseases that previously had no treatment. These include two products for lysosomal storage disorders (Brineura® and Mepsevli®), for spinal muscular atrophy (Spinraza®), the first gene therapy for biallelic mutation-associated retinal dystrophy (Luxturna), and a novel treatment for amyotrophic lateral sclerosis (Radicava). 

According to Evaluate Market Research, the non-orphan drug market is growing at about 6% annually while the Orphan Drug market is growing at about 11% annually.  There are a few reasons for this increase.  Scientific advances now include the use of precision medicine, leveraging human genomic and biomarker data to improve drug target identification and engagement.

Additional innovative approaches include the use of artificial intelligence, digital technology and patient-centric approaches.  Lastly, regulatory agencies such as the FDA (US), EMEA (EU) and PMDA (Japan), have created incentives attached to orphan drug designation.  

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