“Everyone
goes at
their own
pace.”
2 years old, living with infantile-onset NPC, and dad, Tiago.
OR IT COULD BE NPC
When neurological or developmental manifestations in young children are unexplained or progressive, Niemann-Pick disease, type C (NPC), should be considered.1-3
Understanding NPC
NPC is a rare, progressive, autosomal-recessive, neurodegenerative disorder that leads to neurological decline and premature mortality.1,2,4
When neurological symptoms begin before age 6, the condition is referred to as infantile-onset NPC. Symptoms of infantile-onset NPC can vary, but certain signs carry greater diagnostic weight than others.1
SOME SYMPTOMS OF INFANTILE-ONSET NPC ARE1,2:
- Vertical supranuclear saccadic or gaze palsy (VSSP or VSGP)
- Delay or regression in developmental milestones
- Hepatosplenomegaly or splenomegaly
- Current or historical prolonged neonatal cholestatic jaundice
- Gelastic cataplexy
Determine whether NPC should be considered
Use this tool to evaluate clinical patterns and help determine whether infantile-onset NPC should be considered in your differential diagnosis.
This tool is intended to support clinical awareness and is not intended for diagnosis. It should be used for children with neurological symptoms beginning before 6 years of age.
Which neurological findings have you observed?
Select all neurological findings currently present or previously observed in your patient.1
Which current or historical visceral findings have you observed?
Select all current or historical visceral findings observed in your patient.1,2
Is there a known family history of NPC IN A BIOLOGICAL RELATIVE?
Select the option that best describes your patient's family history.
RESULTS
Genetic testing for NPC MAY BE APPROPRIATE
Based on the signs and symptoms selected, it may be appropriate to order genetic testing for NPC.
NEXT STEPS
Order genetic testing at no cost
Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
*Isolated, or with neurological manifestations.
†Pulmonary infiltrates or respiratory failure in infancy.
This tool is intended to support clinical awareness and is not intended for diagnosis. It should be used for children with neurological symptoms beginning before 6 years of age.
Order genetic testing at no cost
Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
RESULTS
Additional clinical evaluation may be needed.
Based on the information provided, additional assessment is needed to determine the level of suspicion for NPC. Consider referral to an NPC-experienced center for further evaluation.
NEXT STEPS
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
*Isolated, or with neurological manifestations.
†Pulmonary infiltrates or respiratory failure in infancy.
This tool is intended to support clinical awareness and is not intended for diagnosis.
It should be used for children with neurological symptoms beginning before 6 years of age.
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
RESULTS
Genetic testing for NPC MAY BE APPROPRIATE
Based on the signs and symptoms selected, it may be appropriate to order genetic testing for NPC.
NEXT STEPS
Order genetic testing at no cost
Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.
Access genetic testing
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
Find a specialist
*Isolated, or with neurological manifestations.
†Pulmonary infiltrates or respiratory failure in infancy.
This tool is intended to support clinical awareness and is not intended for diagnosis.
It should be used for child ren with neurological symptoms beginning before 6 years of age.
©2026 Beren Therapeutics P.B.C. All rights reserved. Beren and Mandos are trademarks of Beren Therapeutics P.B.C. DSA-1384-US-EN-v1 07/2026
RESULTS
Additional clinical evaluation may be needed.
Based on the information provided, additional assessment is needed to determine the level of suspicion for NPC. Consider referral to an NPC-experienced center for further evaluation.
NEXT STEPS
Refer to an NPC-experienced center
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.
Find a specialist
*Isolated, or with neurological manifestations.
†Pulmonary infiltrates or respiratory failure in infancy.
This tool is intended to support clinical awareness and is not intended for diagnosis.
It should be used for child ren with neurological symptoms beginning before 6 years of age.
©2026 Beren Therapeutics P.B.C. All rights reserved. Beren and Mandos are trademarks of Beren Therapeutics P.B.C. DSA-1384-US-EN-v1 07/2026
Test early when NPC is suspected
If NPC is suspected, prompt genetic testing is imperative for a timely diagnosis and to prevent delay in appropriate management.1
Luiz Felipe,
2 years old, living with infantile-onset NPC, and his family.
Managing NPC requires specialized care
Refer to an NPC-experienced center1
Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.1
Treatment for NPC is advancing1,2
Early diagnosis supports timely access to appropriate therapies and management strategies.
ORDER GENETIC TESTING AT NO COST
Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.
References: 1. Hiwot T, Porter FD, Bremova-Ertl T, et al. 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. J Inherit Metab Dis. 2026;49(3):e70185. doi:10.1002/jimd.70185 2. Berry-Kravis E. Niemann-Pick disease, type C: diagnosis, management and disease-targeted therapies in development. Semin Pediatr Neurol. 2021;37:100879. doi:10.1016/j.spen.2021.100879 3. Burton BK, Ellis AG, Orr B, et al. Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. Mol Genet Metab. 2021;134(1-2):182-187. doi:10.1016/j.ymgme.2021.06.011 4. Pineda M, Mengel E, Jahnová H, et al. A suspicion index to aid screening of early-onset Niemann-Pick disease type C (NP-C). BMC Pediatr. 2016;16:107. doi:10.1186/s12887-016-0641-7
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