- In the U.S., approximately two-thirds of people with Niemann-Pick disease, type C (NPC) remain undiagnosed
- ‘Test for NPC’ designed to help children receive early & accurate diagnosis by combining disease education, NPC GenomeComplete test, genetic counseling & expert diagnostic support
- Program expands testing access with broad NPC GenomeComplete eligibility criteria, no-charge whole-genome sequencing & family testing
- Preliminary results available in 48 hours for children in rapid neurological decline
THOUSAND OAKS, Calif.--(BUSINESS WIRE)--Beren Therapeutics P.B.C., a leader in cholesterol-trafficking biology and novel cyclodextrin-based therapeutics, has launched ‘Test for NPC’, a national disease awareness and diagnostic program that reflects the company’s commitment to improve care in Niemann-Pick disease, type C (NPC) beyond the development of new medicines by addressing the need for earlier diagnosis. Designed to shorten the diagnostic journey and help identify children with NPC who might otherwise never be diagnosed, the program includes NPC GenomeComplete, a Beren-sponsored genetic testing program, performed by GeneDx, that offers no-charge whole-genome sequencing, family testing, and post-test genetic counseling for eligible patients.
NPC is a rare, progressive, and fatal neurodegenerative disease caused by variants in the NPC1 or NPC2 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 half of those living with NPC, or 475 children, have infantile-onset NPC (I-NPC), which is when neurological signs appear before a child’s sixth birthday. Earlier neurological onset is associated with more rapid disease progression and premature mortality, making earlier diagnosis a critical priority for these children. Genetic testing is required to confirm the diagnosis of NPC but is often delayed due to diffuse symptoms that overlap with multiple neurological conditions as well as low disease awareness among healthcare providers. As a result, approximately two-thirds of people with NPC remain undiagnosed in the U.S.
“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. “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.”
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. Due to the progressive nature of the disease, early diagnosis is critical to enabling families and healthcare professionals to make earlier treatment decisions.
“Both of my daughters have Niemann-Pick disease, type C, but their paths to diagnosis were profoundly different,” said Pam Crowley Andrews, parent of children living with NPC and Co-Founder & Executive Director, Firefly Fund. “Belle was diagnosed symptomatically just eight days shy of her sixth birthday, after NPC had already begun stealing precious pieces of her childhood. Since NPC is genetic, Belle’s diagnosis immediately prompted screening for her 20-month-old baby sister, Abby, who had no visible signs or symptoms of the disease at the time. Just nine days after Belle was diagnosed, our hearts broke all over again when we learned that Abby also had this devastating condition. Abby’s early diagnosis gave us something we did not have with Belle: the opportunity to intervene before NPC could take hold. Because we knew early, we were able to act early and with that single action we have significantly altered the course of Abby’s life and disease. Diagnosing children before symptoms appear is a critical component of improving health outcomes for NPC patients.”
Why NPC goes unrecognized
The early signs of NPC are common and individually unremarkable, often leading families to consult several different specialists before a pattern is recognized. Together, they signal a condition so rare that most pediatricians have never come across it before. Referral pathways are not obvious, and a lack of familiarity with the genetic testing landscape itself, what to order, and how to interpret it, can delay the next step even when NPC is suspected.
“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. Dr. Porter considers NPC a difficult diagnosis for many physicians to confirm, given its heterogeneity, without the right test. “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. The sooner a diagnosis can be confirmed, the sooner we can start treatment, which is critical in a progressive disease like NPC where patients can’t get back the neurological function they’ve already lost.”
What ‘Test for NPC’ 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.
Additionally, Beren’s Medical Diagnostics team includes board-certified clinical molecular geneticists and genetic counselors with years of experience in both clinical and laboratory genetics. This expertise translates directly into support for healthcare professionals, helping them navigate referral pathways, understand testing options, and move forward with confidence once NPC is suspected.
For parents and caregivers, the site offers plain-language information on what NPC is and how it presents, as well as a specialist finder, and support for the conversation a parent needs to have with their child’s clinician, including a symptom tracker.
NPC GenomeComplete: comprehensive testing at no charge
For eligible patients, Beren is sponsoring NPC GenomeComplete, a no-charge genetic testing program performed by GeneDx, a leader in genomic testing for rare diseases.
The program’s eligibility criteria were developed with input from healthcare professionals and caregivers to reflect the heterogeneous ways that 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.
NPC GenomeComplete 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, which covers both coding and non-coding regions of NPC1 and NPC2
- Trio and targeted familial variant testing, analyzing a child alongside both parents to determine variant phase and reduce uncertain findings, plus extending answers to siblings and other at-risk relatives
- Post-test genetic counseling at no charge, provided by GeneDx’s expert genetic counseling team
‘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 to help ensure more children can benefit from advances in care.
About Niemann-Pick Disease, Type C
Niemann-Pick disease, type C (NPC) is a rare, autosomal-recessive, severe, heterogeneous, neurodegenerative disorder caused by pathogenic variants in the NPC1 (~95% of cases) or NPC2 genes, leading to impaired intracellular cholesterol trafficking resulting in progressive neurological decline and premature mortality. Infantile-onset NPC (I-NPC) refers to NPC in infants and children who first experience neurological symptoms before six years of age. Earlier neurological onset is associated with more rapid progression and poorer prognosis, 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).
About Beren Therapeutics P.B.C.
Beren Therapeutics P.B.C. is a founder-led, clinical-stage biotechnology company pioneering the discovery, development, and commercialization of cyclodextrin-based therapeutics for conditions characterized by defective cholesterol trafficking. Beren and its subsidiary Mandos LLC are committed to the development of adrabetadex for individuals living with Niemann-Pick disease, type C (NPC) and have supported the NPC community by providing access to adrabetadex through an Expanded Access Program (EAP). Adrabetadex is investigational and has not been approved by the FDA or any other health authority at this time.
Beren’s public benefit purpose is to discover, develop, and deliver novel therapies that provide optimal benefit for patients, and to do so by integrating the needs of patients, caregivers, clinicians, and health systems from the beginning of the development process and maintaining a long-term focus on delivering meaningful therapies and access.
Beren is headquartered in Thousand Oaks, Calif. To learn more, visit the company’s website or Beren’s LinkedIn channel.
Contacts
Media Contact:
Beren Therapeutics Media Relations
media@berentx.com
