Rare Diseases
& Orphan Drugs

TFS HealthScience - your partner for bringing treatments to patients faster

Experience you can trust

TFS HealthScience Rare Diseases and Orphan Drugs has worked with a wide variety of compounds, including small molecules and biologics across all phases of clinical development and real-world evidence studies. We understand the unique challenges these studies pose and have specific strategies to mitigate risks including:

  • Country-specific regulatory strategies

  • Recruitment strategies geared toward rare patient populations

  • Investigator site training and specialized communications

From a single service to full program management

From protocol design to submission of study documents, TFS is a source of top scientific, medical, regulatory, and operational expertise. The quality of our full-service portfolio is built on the expertise of our team: scientific advisors, regulatory strategists, and research professionals, all focused on your project’s success.

Case Study: Patient Recruitment of an international Phase III study in Prurigo Nodularis

Investigator identification and patient recruitment are critical in an orphan drug clinical trial and this is magnified when a trial is failing. This complex Phase III trial for hypoparathyroidism was being conducted across Central/Eastern Europe and North America. The incumbent international CRO was unable to meet the enrolment timelines and costs were escalating. Of the target patient enrolment, approximately 95% had yet to be identified when TFS assumed full-service responsibility for this study.

  • Study Phase: IIIb
  • Indication: Prurigo Nodularis
  • Number of patients: 280
  • Sites: 20
Read about the challenges and TFS solution
  • Last 5 years rare disease experience, 70+ studies in multiple indications

    • Giant Cell Arteritis
    • Tuberous Sclerosis
    • Hemophilia
    • Polyarticular Idiopathic Juvenile Arthritis
    • Carnitine Deficiency
    • Limbal Stem Cell Deficiency
    • Peyronie's Disease
    • Transfusional Iron Overload
    • Urea Cycle Disorders
    • Dupuytren's Disease
    • Amyotrophic Lateral Sclerosis
    • Huntington's Disease
    • Keratoconjunctivitis
    • Neuropathy (Multifocal Motor)
    • Hypoparathyroidism
    • Nevoid Basal Cell Carcinoma Syndrome
    • Barrett's Oesophagus
    • Leukaemia (Chronic Myelomonocytic) & Myelodysplastic Syndrome
    • Duchenne Muscular Dystrophy (DMD)

One project, one team

TFS Rare Diseases and Orphan Drugs created a business unit to enhance and augment the already strong experience and expertise in this area. With our dedicated rare disease project managers and physicians, we then craft a team from TFS therapeutic and functional groups that has the experience you need, when and where you need it.

  • Alison Sampson

    Head of Pediatrics, rare diseases, and orphan drugs

    • Oversees pediatric, rare, and orphan product development, actively working with centers of excellence, patient groups, and registries to promote study awareness and to implement tailored recruitment strategies
    • Specific rare diseases expertise in infants and children including studies in rare genetic, lysosomal storage disorders (Gaucher type III, Pompes and Tay-Sachs disease and Niemann-Pick C), growth hormone disorders, Dravet Syndrome and soft tissue sarcoma, etc
    • Direct experience working in corporate clinical development settings from study monitor and project leader to unit manager and head of business development
    • More than 20 years’ experience in clinical development working at large and mid-size CROs and pharmaceutical companies
    • Chartered Scientist Status via the Institute of Clinical Research and the Royal Society of Chemistry. Became a Fellow of the Royal Society of Chemistry in 2013

Tailored solutions to bring treatments to patients faster

We are ready to partner with you to face the challenges posed by rare diseases. Whichever service we provide, we’re on your team.