GeneDx, Beren Launch Sponsored Genome Testing Program for Niemann-Pick Type C

Rare Daily Staff

GeneDx and Beren Therapeutics have launched a sponsored genetic testing program intended to help identify U.S. children with Niemann-Pick disease type C, a rare neurodegenerative condition that is often missed or diagnosed only after a prolonged clinical journey.

The NPC GenomeComplete program will provide no-cost comprehensive genome sequencing for eligible pediatric patients whose clinical symptoms, family history or biomarker findings suggest Niemann-Pick disease type C, or NPC. The initiative is funded by Beren Therapeutics and conducted in collaboration with GeneDx, a Gaithersburg, Maryland-based genetic testing company.

The companies said the program aims to reduce financial barriers and diagnostic delays associated with a disease that has a highly variable presentation. Eligible clinicians will be able to order genome sequencing alongside targeted analysis of the NPC1 and NPC2 genes, which are associated with the disorder. In urgent cases, rapid genome sequencing may yield preliminary findings in as little as 48 hours, according to the companies.

The collaboration comes as Beren develops adrabetadex, an investigational cyclodextrin-based therapy for NPC. The company has also supported access to the candidate through an expanded access program. Adrabetadex has not been approved by the U.S. Food and Drug Administration or any other health authority. The sponsored diagnostic program is separate from treatment approval and does not guarantee that an identified patient will receive the investigational therapy.

For GeneDx, the arrangement expands its use of whole-genome sequencing in rare-disease diagnosis. The company markets genomic testing services for inherited conditions and has built a large rare-disease genomic dataset that it uses to support variant interpretation and biopharmaceutical research.

NPC is an inherited disorder of intracellular cholesterol trafficking that can cause progressive neurological deterioration and premature death. Its symptoms and age at onset vary substantially, complicating recognition by clinicians. The most severe infantile-onset form generally presents with neurological signs before age 6.

Beren estimates that about two-thirds of people with NPC in the United States remain undiagnosed. Among children believed to have infantile-onset NPC, the company estimates that approximately 475 may be living with the condition in the United States, while only about 175 have received a diagnosis.

“Nearly every family we speak with in the NPC community describes a long diagnostic journey full of uncertainty,” Jason Camm, Beren’s founder and CEO, said. “Beren designed NPC GenomeComplete to change that through broad comprehensive genome sequencing, family testing and genetic counseling at no charge.”

Rather than requiring a patient to have a classic NPC presentation or an existing diagnosis from a specialist, the program is structured around broader eligibility criteria, the companies said. That approach could be significant for a disease whose manifestations may differ by age and include visceral, psychiatric and neurologic features.

The testing program is available regardless of a patient’s insurance status. Beren will fully sponsor the testing, a model the companies said is designed to remove insurance-related and out-of-pocket barriers that can limit access to comprehensive genomic testing.

The program also includes family testing and genetic counseling.