Clinical research plays an essential role in advancing our understanding of Niemann-Pick disease and developing new approaches to treatment and care. Explore current clinical trials, observational studies, and research opportunities relevant to the Niemann-Pick disease community.
Exploring research opportunities, emerging treatments, and advances in care
Clinical research plays an essential role in advancing our understanding of Niemann-Pick disease and developing new approaches to treatment and care. The National Niemann-Pick Disease Foundation (NNPDF) is committed to helping individuals and families affected by Niemann-Pick disease type C (NPC) and acid sphingomyelinase deficiency (ASMD) stay informed about research opportunities.
This page provides information about clinical trials, observational studies, natural history research, and treatment development programs relevant to the Niemann-Pick disease community.
Research opportunities may be available to individuals with:
Important: Not all research studies involve experimental treatments, and not all active studies are accepting new participants. Eligibility, enrollment status, study locations, and availability may change.
Families are encouraged to speak with their healthcare providers and contact study coordinators directly when considering research participation.
Learn what clinical trials are, how the phases work, who may be eligible, what participation costs, and how to find a trial.
Niemann-Pick Disease Type C
Study: NAVIGATE and related Phase 3 research
Condition: Niemann-Pick disease type C
Research type: Investigational treatment
Enrollment: Recruiting in the latest reviewed listings
Azafaros is evaluating nizubaglustat (AZ-3102), an investigational oral therapy designed to address aspects of disease biology associated with NPC and certain other lysosomal storage disorders.
The Phase 3 clinical research program evaluates treatment safety and effectiveness, including neurological symptoms and disease progression.
Participation is subject to specific eligibility criteria, which may include age, disease characteristics, and other clinical considerations. Study locations include sites in the United States and internationally.
Learn more
These study registrations are part of the broader nizubaglustat clinical development program. Families should review the individual protocols and contact the study team to determine which opportunities may be appropriate.
Study: NCT00344331
Condition: Niemann-Pick disease type C
Research type: Natural history and observational research
Enrollment: Recruiting in the latest reviewed listing
Location: NIH Clinical Center, Bethesda, Maryland
The National Institutes of Health (NIH) is conducting research to better understand how NPC progresses over time.
Researchers collect clinical information and evaluate neurological findings, biochemical markers, and other measures of disease progression. This research can help identify meaningful outcomes for future clinical trials and improve understanding of NPC.
This is not a clinical trial of a new medication.
Learn more
Study: NCT05588167
Condition: Niemann-Pick disease type C
Research type: Genetic and observational research
Enrollment: Contact the study team to confirm current availability
Location: NIH Clinical Center, Bethesda, Maryland
This NIH research initiative investigates the relationship between genetic changes and the clinical features of NPC.
Researchers collect genetic information, medical histories, and other clinical data to better understand why NPC symptoms and progression vary among individuals.
Participation may involve a blood sample, genetic analysis, and review of medical records.
The study may contribute to improved disease understanding and future research strategies.
Learn more
Acid Sphingomyelinase Deficiency
Study: NCT06192576
Condition: Acid sphingomyelinase deficiency
Research type: Long-term safety and observational research
Enrollment: Recruiting in the latest reviewed listing
Sponsor: Sanofi
Sanofi is conducting a study evaluating the long-term safety and immune responses associated with olipudase alfa (Xenpozyme) treatment in children younger than 2 years of age with ASMD.
Olipudase alfa is an FDA-approved enzyme replacement therapy for non-central nervous system manifestations of ASMD. This study seeks to expand understanding of treatment in very young children.
The research focuses on safety, tolerability, and immunogenicity. It is not a placebo-controlled trial of a new experimental drug.
Study participation is subject to eligibility requirements and availability at participating research centers.
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Some studies remain active after enrollment has closed. Others have completed their primary research and are progressing through data analysis, regulatory review, or long-term follow-up.
Although these studies may not be accepting new participants, they remain important to the Niemann-Pick disease community.
Study: TransportNPC, NCT04860960
Condition: Niemann-Pick disease type C
Research type: Phase 3 investigational intravenous treatment
Enrollment: Primary study enrollment completed
The TransportNPC Phase 3 clinical trial evaluated Trappsol Cyclo, an investigational intravenous (IV) formulation of hydroxypropyl beta-cyclodextrin, in individuals with NPC.
The study investigated treatment safety and effectiveness, including neurological outcomes and disease progression.
Although primary enrollment has been completed, continued follow-up, data analysis, and regulatory development remain important areas of interest.
Learn more
Study: NCT04958642
Condition: Niemann-Pick disease type C
Research type: Investigational treatment and regulatory development
Enrollment: Contact the sponsor regarding current research or access opportunities
Adrabetadex is an investigational intrathecal administration hydroxypropyl beta-cyclodextrin therapy developed for NPC.
Clinical research has evaluated its potential to address neurological manifestations of the disease.
The program has progressed into regulatory review. Families should consult official FDA and sponsor communications for the latest information about approval status and potential treatment access.
Learn more
NNPDF is a proud member of the International Niemann-Pick Disease Alliance (INPDA), a global network of patient organizations working together to advance research, raise awareness, and improve the lives of individuals and families affected by Niemann-Pick disease and ASMD.
Through international collaboration, NNPDF and INPDA help connect the global Niemann-Pick community with information about clinical trials, emerging therapies, and research developments.
To learn more about international research and clinical trial opportunities, visit the International Niemann-Pick Disease Alliance (INPDA).
Become an NNPDF member for the latest research updates, event invitations, and a direct line to the community.
