Huntington’s Disease Regulatory Science Consortium

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The Problem

Huntington’s disease (HD) is an autosomal-dominant neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat in the huntingtin gene that encodes a mutant huntingtin protein. It is characterized by devastating motor impairment, cognitive decline and neuropsychiatric disturbances. Research suggests that changes in the brain occur up to 15 years prior to the onset of motor symptoms. This highlights the need for a better understanding of disease progression and early intervention, especially because there aren’t any approved disease-modifying therapies for this devastating disease.

The Solution

HD-RSC leverages the deep knowledge of HD gained from working with patients, families, researchers, neurologists, and clinical scientists, as well as previous experience and learnings from other C-Path neuroscience consortia to achieve success. HD-RSC provides a neutral forum and collaborative framework that facilitates interaction between members of the HD community, including biopharmaceutical companies, regulatory agencies, and HD patients and caregivers. These groups work together to contribute to innovative drug development tools, such as biomarkers, clinical outcome assessments, and quantitative solutions like clinical trial simulator tools that result in publicly available regulatory solutions that can be applied to decrease the time and costs associated with developing novel therapies for HD.

Collectively, HD-RSC’s activities constitute a regulatory science strategy for HD therapeutics that offer additional incentives to drug developers and help further de-risk HD therapeutic development. This consortium advances the development of better treatments that will improve the lives of all affected by Huntington’s disease.

The Impact

Disease modifying therapies for HD are still lacking. Furthermore, optimal clinical trials in HD remain a field-wide unmet need. HD-RSC identifies and advances drug development solutions that are most needed for the efficient and effective advancement of HD drug candidates to and through clinical trials. Ultimately, HD-RSC will make these solutions available for public use in order to accelerate and de-risk the HD therapy development pathway. Examples of these efforts include:

  • Collecting and standardizing natural history and clinical trial data from HD patients around the world to develop an aggregated disease database of patient-level data that can support the development of critical tools.
  • Developing a clinical trial simulation tool (CTS) that is under active regulatory review by both FDA and EMA that, once validated and approved, will help to optimize trial design and decrease the time and cost associated with developing and approving new therapies for HD.
  • Developing a globally harmonized regulatory strategy and enabling real world application of the HD integrated staging system (HD-ISS). This biology-driven staging framework integrates key elements of patient-focused drug development approaches and better captures clinically meaningful aspects of patient experiences across stages of disease progression. This process helps regulators and developers understand the progression of HD and how to best serve patients across its different stages.


Terina Martinez, PhD
Executive Director, Rare and Orphan Diseases

Tanya Williams, MPH
Senior Project Manager, CP-RND, CPTA, and HD-RSC

Mara Potthoff
Senior Project Coordinator,  CPTA and HD-RSC

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