Case Study: Accelerating a Clinical Trial
for Patients with a Rare Disease

Having a genetics services partner throughout the clinical trial and pre- and post-market stages of rare disease drug development is an asset to pharmaceutical companies as well as to patients.

As our client worked its way through the complex process of gaining FDA approval for the first-ever treatment for adults with the rare disease Acute Hepatic Porphyria (AHP), they chose to partner with InformedDNA to support their efforts. From guiding patients through a remote screening process to providing pre- and post-test genetic counseling about the disease and treatment options, we worked hand-in-hand.

In this case study, we share solutions provided to accelerate our client’s rare disease clinical trial, including:

  • Telemedicine services delivery
  • Rare disease genetics expertise
  • Patient identification
  • Genetic test result interpretation and disclosure
  • At-risk family member identification and engagement

InformedDNA is the largest full-service genetic advisory company, with a suite of offerings for clinical trial sponsors and CROs designed to support clinical trials, natural history studies, and clinical research programs. Our services are optimized to reduce time-to-enrollment, increase screening efficiencies, improve patient retention, mitigate sponsor risk, and reduce clinical trial costs.


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