Critical Path to Therapeutics for the Ataxias

Overview

The Problem

Inherited ataxias are a diverse collection of genetic disorders that are characterized by manifestation of ataxia symptoms (impaired coordination of voluntary movements, such as gait and speech). The clinical presentation is typically associated with atrophy of the cerebellum, a structure located at the base of the brain that maintains balance and regulates muscle movements. Each individual ataxia has a unique genetic cause and spectrum of clinical presentation, which may affect different body systems as a result. For example, spinocerebellar ataxias (SCAs) often include dysphagia, stiffness, hyperreflexia, spasticity, and some cognitive impairment, while autosomal recessive ataxias often include peripheral neuropathy and seizures. However, there are also many additional symptoms specific to each disease subtype.

Although the pipeline of new therapies for the ataxias is expanding, there remain large gaps in our understanding of these diverse disorders. In particular, as novel therapies approach clinical evaluation, there is an urgent need for actionable tools to understand the natural history, progression and variance in these diseases, as well as how to robustly measure therapeutic effects in clinical trials that are also meaningful to individuals with ataxias.

The Solution

CPTA brings together experts from across different fields of ataxia research, and drug development to create regulatory tools and strategies within a neutral forum that will catalyze clinical progress in the ataxias. In doing so, we aim to both accelerate and innovate therapeutic development for these rare neurodegenerative disorders and deliver effective treatments to individuals living with ataxia.

CPTA’s aggregated datasets are hosted on C-Path’s Rare Disease Cures Accelerator – Data and Analytics Platform (RDCA-DAP), an FDA-funded initiative that provides a centralized and standardized infrastructure for data across rare and orphan diseases. Sharing data on this platform enhances the impact of ataxia data and facilitates advanced analytical approaches. These data will inform ataxia research, leading to a better understanding of these disorders and how disease progression and drug effects can be measured. As a result, CPTA helps optimize the development of novel medical products for inherited ataxias.

The Impact

CPTA is focused on collaboratively driving advancement in the following areas:

1. Analysis of existing and new endpoints and/or biomarkers to optimize measurement of disease progression and drug effects in the various ataxias.
2. Developing a biology-based, integrated staging system as a foundation and rational framework for consortium activities.
3. Aggregation and sharing of existing clinical data across the ataxias to inform community understanding of natural history of the different ataxias to enable data-driven decisions in implementing CPTA’s research plan.

Through advancing these solutions and addressing unmet needs in therapeutic development for the ataxias, CPTA will accelerate new solutions and improve the lives of people affected by these genetic disorders. How do we do it? Find out here.

Collaborators

Nonprofit Organizations

• Ataxia Charlevoix-Saguenay Foundation
• Ataxia Global Initiative (AGI)
• Ataxia UK
• National Ataxia Foundation

Academic Institutions

• Besta Institute
• Charité University of Medicine, Berlin
• Clinical Data Science Gmbh
• Houston Methodist Hospital
• Medical University of Innsbruck
• Northwestern University
• Paris Brain Institute
• Sorbonne University
• University of Bonn
• University of Chicago
• University of Tübingen

Pharmaceutical Industry

• Biogen
• Biohaven, Ltd.
• Institute De Recherches Internationales Servier
• PTC Therapeutics

Government and Regulatory Affairs

• Michelle Campbell, FDA

Team