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Rare Disease Clinical Research
Rare Disease Clinical Research

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Expert Article: In Their Lifetime: Outlook for Rare Disease and Orphan Drug Research (PDF)

Fact Sheet: Understanding Orphan Designations and Rare Disease Studies from a Regulatory Perspective (PDF)


Alone we are rare. Together we are strong.™ - The National Organization for Rare Disorders (NORD) provides advocacy, education and other services to improve the lives of all people affected by rare diseases. >>Read more.

Rare Disease and Orphan Drug CRO for Clinical Research

Rare Disease studies pose a different challenge in terms of project management, site selection and patient enrollment and retention. Rare disease – defined in the US as 1 in 200,000 patients - demand a CRO with innovative strategies to manage a rare disease program. In particular, Rare Disease studies demand a CRO with expertise in enrolling rare disease patients and maximizing site selection to create realistic study feasibility. Designing protocols and executing study design for scarce patient populations including pediatric patients who comprise 50% of these populations require medical doctors and pediatricians with specialized expertise. In addition, study design inclusive of a late phase component with access to Rare Disease patient registries is a critical tool.

Best Practices in Conducting Rare Disease Studies

Recent DIA Interview with Michelle Petersen, Medpace Clinical Trial Manager

Planning and Executing a Clinical Study for an Orphan Indication

Innovative Approach for Rare Disease and Orphan Drug Projects

  • Site relationships with access to patient registries to drive patient enrollment
  • Broad understanding of patient advocacy issues and organizations for support
  • Physicians with Pediatric experience to understand the study design and complexity involved
  • Global regulatory understanding and consultation regarding the unique environment for Rare Disease studies

Rare Disease and Orphan Drug Experience

Medpace has conducted more than 40 global trials covering Phase I-V, involving 4,500 patients including these rare disease indications:
  • Acromegaly
  • Adrenocortical carcinoma (ACC)
  • Cushing’s Syndrome
  • Cystic Fibrosis
  • Eosinophilic Esophagitis
  • Familial Hypercholesterolemia
  • Fibrodysplasia
  • Gastroparesis
  • Glomerulonephritis
  • Growth Hormone Deficiency
  • Niemann Pick Type C disease
  • Nonsense Mutation Dystrophinopathy
  • Ossificans progressive (FOP or Stoneman’s Disease)
  • Renal vasculitis
  • Respiratory Syncytial Virus (RSV) in lung transplant patients
  • Tinnitus
  • TTR Amyloidosis

The Medpace Difference for Rare Disease and Orphan Drug Studies

In addition to the Medpace Difference that applies to all of our therapeutic areas, our Rare Disease practice is treated as a cross functional team, with collective experience in managing studies including veteran project managers and Doctors in Rare Disease to late phase operational teams with expertise in patient registries and risk based monitoring.
  • Committed cross functional team of Rare Disease experts comprised of doctors, project managers, regulatory consultants, and late phase specialists to orchestrate these complex studies
  • Board-certified Pediatricians with backgrounds treating pediatric patients with Rare Disease / Orphan Drug conditions
  • Global expertise in varied regulatory issues – critical for Rare Disease projects
  • ClinTrak, Medpace propriety Study Management system, providing decision support for all aspects of a project including managing Late Phase Patient registries

Planning and executing a clinical study for an orphan indication presents a unique set of challenges and considerations. In this 30-minute presentation, Michelle Petersen, Medpace Clinical Trial Manager discusses successful strategies and best practices for addressing some of these including:
  • Unique methods to site selection and feasibility
  • Successful recruitment/retention approaches
  • Overview of common study execution
  • Optimal training and monitoring strategies