Critical Path Institute: Decoding Rare & Orphan Diseases

By Tara Kirkpatrick

Rare and orphan diseases–with the dual distinction of being both uncommon and incredibly challenging–have found a true champion in the Critical Path Institute.

Rare diseases affect fewer than 65 in 100,000 people, as labeled by the World Health Organization. The FDA and National Institutes of Health define rare diseases as those affecting fewer than 200,000 people in the country.

Yet, with more than 7,000 such diseases identified globally–often among children–they impact roughly 300 million people. 

By bringing regulators, pharmaceutical companies and patients’ organizations to the same table and sharing valuable data, C-Path is creating a trusted baseline from which better studies can be designed, new patterns can be analyzed and new therapies can be developed.  

“Rare disease studies can be challenging given the small numbers of patients and the limited understanding of the disease,” explained Collin Hovinga, VP of Rare/Orphan and Pediatric Disease programs at C-Path. “We bring stakeholders together, sponsors, persons with lived experience, clinicians and researchers to build solutions that generate impact.”

A look at some of the progress:

Polycystic Kidney Disease

One of C-Path’s major victories was helping to fuel the first-ever biomarker, followed by the first-ever drug to slow polycystic kidney disease. The genetic disorder causes clusters of cysts to grow in the body, mainly on the kidneys, damaging them over time.

C-Path’s Polycystic Kidney Disease Outcomes Consortium achieved a milestone when it secured the nod of the FDA and EMA for height-adjusted total kidney volume, or htTKV, as a biomarker, said Hovinga. “Building on that biomarker foundation, tolvaptan became the first approved therapy to slow…progression.”

The consortium is focused on additional PKD biomarkers and advancing a clinical trial simulator to design better trials for future therapies.

Duchenne Muscular Dystrophy

A complex disease caused by a genetic mutation, Duchenne muscular dystrophy robs patients, mostly boys, of the ability to walk and hits their hearts and lungs. 

C-Path’s Duchenne Regulatory Science Consortium has developed an extensive database of information from DMD studies that helped produce the very first computational model for DMD clinical trial simulations. This sophisticated tool predicts results so a new therapy trial can be faster and less expensive.

Before this, designing a DMD trial was difficult because of the disease’s incredible complexity. The initiative has received a letter of support from the European Medicines Agency.

The DMD consortium’s work has also led to advancing glutamate dehydrogenase as a safety biomarker in trials of patients with muscle disorders.

Friedreich’s Ataxia

With the largest integrated data and analytics platform for rare diseases, C-Path helped foster the first-ever treatment for Friedreich’s ataxia, an inherited disorder that damages the spinal cord, part of the brain and the heart. 

The new drug, Skyclarys from Reata Pharmaceuticals, was approved in 2023 to slow the disease progression and improve neurological function.

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