Disease Directory Infantile neurovisceral acid sphingomyelinase deficiency
Rare Disease

Infantile neurovisceral acid sphingomyelinase deficiency

Type

Disease

Gene

SMPD1

About Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral acid sphingomyelinase deficiency is a rare disease catalogued by Orphanet (ORPHA:77292). It is associated with the SMPD1 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Infantile neurovisceral acid sphingomyelinase deficiency trials.

Search ClinicalTrials.gov for "Infantile neurovisceral acid sphingomyelinase deficiency" or filter by Orphanet code ORPHA:77292 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:77292)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Infantile neurovisceral acid sphingomyelinase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Infantile neurovisceral acid sphingomyelinase deficiency. Updated daily.