NPC GenomeComplete sponsored testing program
Beren Therapeutics P.B.C., in partnership with GeneDx, offers sponsored whole genome sequencing for eligible patients with suspected Niemann-Pick disease type C (NPC).
Eligible patients may receive no-cost whole genome or targeted variant testing through this sponsored program to support earlier genetic diagnosis and inform clinical care.
What is Niemann-Pick disease type C?
Niemann-Pick disease type C (NPC) is a rare, progressive neurodegenerative, autosomal-recessive lysosomal storage disorder caused by disease-causing variants in the NPC1 or NPC2 genes. These variants cause dysfunction or loss of proteins that play a role in the way the body transports cholesterol and other lipids, which results in their accumulation in a compartment of the cell called the lysosome. This buildup affects every cell in the body but is most devastating in the brain and nervous system, driving progressive neurological decline and increased neuronal cell death in multiple organs and tissues.
NPC can present at any age. Symptoms can be non-specific and can vary based on age of onset, making diagnosis particularly challenging. Clinical features can vary widely between affected individuals and may include:
- Developmental delay or regression
- Early-onset cognitive decline or dementia
- Progressive ataxia, dystonia, or spasticity
- Vertical supranuclear gaze palsy (inability to voluntarily move eyes up or down)
- Dysphagia and/or dysarthria
- Unexplained jaundice or cholestasis
- Hepatomegaly or splenomegaly
- Gelastic cataplexy (sudden, brief loss of muscle tone triggered by laughter)
- Sensorineural hearing loss
- Seizures
- Treatment-resistant psychiatric illness
- Liver failure
Because symptoms frequently overlap with other neurological and metabolic disorders, comprehensive genomic testing can help establish an accurate diagnosis, inform clinical management, and identify patients who may benefit from disease-specific treatment options.
Is your patient eligible?
Patients must meet ALL of the following:
- Reside in the United States
- Must be age 15 or younger
- Parent/Guardian must consent to sharing de-identified data with Beren Therapeutics P.B.C.
And ONE of the following:
- Clinical findings – 3 or more of the following:
- Supranuclear gaze palsy or supranuclear saccadic palsy (inability to voluntarily move eyes up or down)
- Developmental regression, early-onset cognitive decline, or dementia
- Dysarthria or dysphagia
- Treatment-resistant psychiatric illness (psychosis, schizophrenia, depression, etc.)
- Acute neonatal liver failure
- Pulmonary infiltrates or respiratory failure in infancy
- Gelastic cataplexy (sudden, brief loss of muscle tone triggered by laughter)
- Progressive ataxia, dystonia, spasticity, or cerebral palsy
- Seizures
- Sensorineural hearing loss
- Prolonged, unexplained jaundice or cholestasis (>2 weeks)
- Hypotonia or failure to thrive
- Unexplained fetal ascites or non-immune hydrops fetalis
- Splenomegaly and/or hepatomegaly
- Family history of Niemann-Pick disease type C with a confirmed molecular diagnosis
- Elevated NPC Biomarker
- C-triol, PPCS, PPCS:lyso-SM, or bile acid derivative (plasma or urine)
How does the program work?
The testing works like any other GeneDx test order, with a few differences.
Eligibility
Eligibility criteria must be met.
Ordering
For portal orders:
Log in here or follow these steps to create an account. Provide the program code (STP-BEREN-NPC) after adding GenomeDx® or GenomeDx® Rapid (proband, duo, or trio) in-patient or Targeted Variant Testing for NPC1 or NPC2, to your cart.
For paper orders:
Use this specific test requisition form. To collect samples follow these instructions.
Report
You will receive a comprehensive clinical report with expert interpretation of your patient’s results.
Billing
No claim will be submitted to a patient’s insurance. All tests are covered directly by Beren Therapeutics P.B.C.
Forms & Flyers
Test requisition form
Test requisition form (rapid sponsor testing)
Healthcare provider flyer
Patient flyer
About Beren Therapeutics P.B.C.
Beren is a public benefit corporation building a new model of integrated, patient-aligned biotechnology. Beren was designed from inception to understand the needs of patient communities, healthcare providers, and health systems in order to identify, develop, and provide access to transformative medicines.
Beren is focused on the development of cyclodextrin-based therapeutics for conditions characterized by impaired cholesterol trafficking, including Niemann-Pick disease Type C (NPC) and other neurodegenerative conditions.
Beren has brought together pathbreaking research, clinical, manufacturing, access, and commercial expertise to pursue treatments tackling the root causes underlying disease. Together with the patient community and partners across the ecosystem, Beren is driving forward innovation to accelerate their mission and build better medicines for patients.
Ready to bring genomics into your practice?
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