Rare Disease Consortium Seeks to Speed Treatment Development

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by Mary Chapman |

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The Critical Path Institute (C-Path) has announced a public-private partnership seeking to accelerate the development of safe and effective treatments for rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency.

The partnership, called the Rare Disease Clinical Outcome Assessment (COA) Consortium, will attempt to identify scientifically sound ways to collect clinically meaningful data about outcomes from rare disease clinical trials, which will be used in treatment programs across multiple rare diseases, according to a press release.

More than 350 million people globally are affected by one of the more than 7,000 rare diseases. This puts a burden not just on patients and families, but on communities and healthcare systems. Of those rare disorders, half of which affect children, it’s estimated that less than 10% have an approved therapy. Further, most of the conditions require lifetime treatment.

AADC deficiency, a genetic disorder that affects the nervous system, is extremely rare, with only about 120 cases reported. There is currently no cure for the disease, but treatments exist to ease some symptoms and improve life quality. In addition to those approved therapies, other treatment candidates are being developed.

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For most rare diseases, clinical outcome assessments — used to measure a treatment’s clinical benefit — are either unidentified or nonexistent. Because there are no approved therapies for most of these diseases, and appropriate clinical trial endpoints (objectives) are shrouded in considerable uncertainty, a significant unmet public health need remains.

“With the increased emphasis on patient centeredness in clinical trials, selection of COAs that assess outcomes that are meaningful is critical,” said Lindsey Murray, PhD, the consortium’s executive director. “The vision of the Rare Disease COA Consortium is to catalyze medical product development by measuring what truly matters to people with rare diseases and their families.”

To address the public health need, the Rare Disease COA Resource will provide information on publicly available COAs that are identified as possible “fit-for-purpose” endpoint measures in rare-disease treatment trials. In clinical studies, an endpoint is an event or outcome that can be objectively measured to determine whether the potential therapy being studied is beneficial.

The COA Resource was created based on the premise that, for rare diseases with common characteristics, existing COAs may be used or modified for use as endpoint measures in clinical trials. The idea is that identifying existing measures that might be fit could lower the amount of time and costs  associated with new COA development.

Initially, the COA Resource will focus on assessing daily function in pediatric populations of patients with non-oncologic rare diseases. With federal funding support from the U.S. Food and Drug Administration (FDA), its development has been underway since 2019.

The consortium will continue work begun to identify and rank other issues tied to clinical treatment benefit assessment in rare disease clinical studies. Such efforts have already included identifying methods for gauging treatment benefit in diseases with distinct signs and symptoms, as well as a webinar on strategies to lessen the impact of COVID-19 in pediatric rare disease clinical investigations.

In addition to the FDA and C-Path — a nonprofit organization the FDA helps fund — the Rare Disease COA Consortium also is comprised of the National Organization for Rare Disorders (NORD), other government agencies, and stakeholders in pharmaceutical, clinical research, and patient communities that seek rare disease treatments.

“We are exceptionally grateful to FDA for the vision and funding that enabled the Rare Disease COA Consortium to be established,” said Stephen Joel Coons, PhD, senior vice president of C-Path’s clinical outcome assessment program.

“It will now be supported by membership fees from biopharmaceutical firms and other stakeholders advocating for or developing new drugs or biologics for the treatment or cure of rare diseases,” he added. “We are very pleased this new consortium will join other C-Path consortia and programs aimed at enhancing the health and well-being of individuals with rare disorders.”

For questions or information about consortium membership, send an email to Lindsey Murray at [email protected]