Beren Therapeutics and GeneDx Launch 'Test for NPC' to Accelerate Diagnosis of Niemann-Pick Disease Type C
核心洞察
Beren Therapeutics (搜索) launched 'Test for NPC,' a national program combining disease education, no-charge whole-genome sequencing, genetic counseling, and expert diagnostic support for Niemann-Pick disease type C.
Approximately two-thirds of people with NPC in the U.S. remain undiagnosed, and only about 175 of an estimated 475 children with infantile-onset NPC are currently diagnosed.
The NPC GenomeComplete sponsored testing program, performed by GeneDx (搜索), offers rapid sequencing with preliminary results in as soon as 48 hours for children in urgent neurological decline.
Beren Therapeutics (搜索) P.B.C., a clinical-stage biotechnology company focused on cholesterol-trafficking biology and cyclodextrin-based therapeutics, has launched "Test for NPC," a national disease awareness and diagnostic program designed to shorten the diagnostic journey for children with Niemann-Pick disease, type C (搜索) (NPC). The program, announced September 9, 2026, combines disease education, the NPC GenomeComplete genetic testing program, genetic counseling, and expert diagnostic support to help identify children who might otherwise never be diagnosed.
NPC is a rare, progressive, and fatal neurodegenerative disease caused by variants in the NPC1 (搜索) or NPC2 (搜索) genes that disrupt intracellular cholesterol trafficking, leading to cellular dysfunction with the most devastating impact in the brain and nervous system. In the U.S., approximately two-thirds of people with NPC remain undiagnosed. The most severe form, infantile-onset NPC (I-NPC), presents with neurological signs before age six; approximately 475 children are believed to have I-NPC, yet only approximately 175 are currently diagnosed.
"Nearly every family we meet in the NPC community describes years of uncertainty and a long diagnostic journey before receiving a diagnosis. In a progressive neurodegenerative disease, every delay matters because as neurons are lost, neurological function declines and cannot be regained," said Jason Camm, Founder and Chief Executive Officer of Beren Therapeutics (搜索). "At Beren, we believe that treating NPC requires more than a medicine alone, so we created 'Test for NPC' to shorten the diagnostic journey and identify children who might otherwise never be diagnosed."
The diagnostic challenge
Genetic testing is required to confirm a diagnosis of NPC, but it is often delayed due to diffuse symptoms that overlap with multiple neurological conditions as well as low disease awareness among healthcare providers. According to the NPC Registry, it takes 2.5–4.3 years after a child's first neurological symptom to diagnose them with I-NPC. Earlier neurological onset is associated with more rapid disease progression and premature mortality, with mean ages of death of approximately 5.6 years for early infantile-onset (neurological onset before age two) and approximately 13.4 years for late infantile-onset (two to under six years).
"Given its heterogeneous presentation, NPC is difficult to recognize and can be difficult to confirm without the right test," said Forbes Porter, M.D., a senior scientist and NPC expert at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, which has a Cooperative and Development Research Agreement with Beren. "The eligibility criteria for NPC GenomeComplete were designed to provide best-in-class testing to support the diagnosis of infantile-onset NPC, where the diagnostic window is shortest and the cost of delay is highest."
What the program provides
For healthcare professionals, TestForNPC.com provides specialty-specific education on the signs and symptoms that should raise suspicion for NPC sooner, education on when to move from observation to genetic testing, and direct access to the NPC GenomeComplete sponsored testing program. Beren's Medical Diagnostics team includes board-certified clinical molecular geneticists and genetic counselors who support healthcare professionals in navigating referral pathways and understanding testing options. For parents and caregivers, the site offers plain-language information on NPC, a specialist finder, and a symptom tracker.
The NPC GenomeComplete program, performed by GeneDx (搜索), offers no-charge whole-genome sequencing for eligible patients. Eligibility was developed with input from healthcare professionals and caregivers to reflect the heterogeneous ways NPC presents in clinical practice, rather than requiring a classic presentation or prior specialist diagnosis. Eligibility is through any of three pathways: clinical findings consistent with NPC, an elevated NPC biomarker, or a confirmed family history of NPC.
The testing program offers an expedited pathway for patients requiring urgent medical decisions, returning preliminary results in approximately 48 hours for children in rapid neurological decline, against a standard turnaround of approximately four weeks. Genome sequencing covers both coding and non-coding regions of NPC1 (搜索) and NPC2 (搜索). Trio and targeted familial variant testing analyzes a child alongside both parents to determine variant phase and reduce uncertain findings, while extending answers to siblings and other at-risk relatives. Post-test genetic counseling is provided at no charge by GeneDx (搜索)'s expert genetic counseling team.
Testing is fully sponsored by Beren Therapeutics (搜索) and does not require a patient to have insurance, helping reduce financial and insurance-related barriers to comprehensive genomic testing.
Advancing care beyond diagnosis
"Test for NPC" reflects Beren's broader commitment to advancing care for the NPC community. Alongside developing adrabetadex, Beren has invested in disease awareness, testing for earlier diagnosis, medical education, patient support, and evidence generation. Adrabetadex is an investigational cyclodextrin-based therapeutic that has not been approved by the FDA or any other health authority at this time. Beren and its subsidiary Mandos LLC have supported the NPC community by providing access to adrabetadex through an Expanded Access Program (EAP).
"For children with suspected rare disease, an accurate diagnosis can be life-changing," said Lisa Gurry, Chief Business Officer at GeneDx (搜索). "By combining GeneDx's diagnostic expertise with the power of our genomic data and Beren's deep understanding of NPC, this collaboration can help more patients get answers sooner and accelerate the path to appropriate care."