An orphan or rare disease is a rare medical condition which affects a small percentage of the population. An orphan drug is a pharmaceutical agent developed specially to treat an orphan disease. According to the European Medicines agency (EMA), there are an estimated 5,000 to 8,000 rare diseases, many of which have a documented genetic etiology. Despite being individually rare, orphan diseases as a group afflict between around 27 million and 36 million* people in the European Union making them collectively common.

When conducting a clinical trial of an orphan drug the following factors can prove to be challenging:

  1. Limited pool of eligible patients;
  2. Wide geographical spread of study subjects and Investigators;
  3. Large heterogeneity in patient populations with different phenotypes and various disease pathophysiology;
  4. Lack of preceding clinical trials to establish a baseline standard for study execution;
  5. Large heterogeneity in treatment effects;
  6. Uncertainty in regulatory practice and various regulatory requirements in each country of operations.

At Cromos Pharma we have built significant experience in orphan drugs research, and offer our global services to successfully overcome many of the common obstacles common to this field. Our dedicated team comprise medical and regulatory experts with practical experience and a deep knowledge of this challenging area.

Our key differentiator in expediting orphan drug development is achieved through implementation of a unique strategy on a case by case basis to optimize execution of an orphan drug study. For example, at the stage of trial planning our team applies the lessons learned from oncology and pediatric studies in rare disease programs, combined with the Key Opinion Leaders’ (KOL) feedback to provide the best advice on implementing adaptive trial designs. The distinctive methodology used to achieve the appropriate site selection allows us to perform realistic feasibility analysis to deliver the required patients. In this analysis Cromos Pharma’s feasibility team performs comprehensive diligence on patient eligibility in addition to reviewing other key aspects of the project, such as Investigators experience, equipment accessibility, competing trials, varying standards of care and regulatory aspects of particular countries. As orphan drug development requires extra attention, our study team provides the Investigators with additional training and support throughout the study duration.

Moreover, our patient recruitment strategy involving referral sites and other activities facilitates optimization of the patient enrollment process.

Cromos Pharma has contributed to the analysis, design, management and/or conduct of 20+ studies in rare diseases, covering Phases II to IV, including but not limited to:

  • Autism spectrum disorders
  • Bulimia nervosa
  • Congenital afibrinogenemia
  • Glioblastoma
  • Growth hormone deficiency (GHD)
  • Haemophilia A
  • Haemophilia B
  • Hereditary angioedema
  • Ménière’s disease
  • Niemann-Pick disease Type C
  • Retinitis pigmentosa
  • Sjögren-Larsson syndrome
  • Von Willebrand’s Disease
  • X-linked adrenomyeloneuropathy