Clin2
NCT06258577Possibly a fitNot yet recruiting

Screening for Gaucher and ASMD

Gaucher Disease

Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.

This study screens people with an enlarged spleen and low platelet count for two rare genetic conditions: Gaucher disease and acid sphingomyelinase deficiency (ASMD). It aims to find people who might have these treatable disorders.

Summary written for real people, not researchers, by Clin2.

Phase
N/A
Enrollment
50 people
Ages
Any age
Study type
Observational

Who can take part

  • You have an enlarged spleen (splenomegaly).
  • You have low platelet count (thrombocytopenia).
  • You have not been diagnosed with Gaucher disease, ASMD, or cancer.

View the official record on ClinicalTrials.gov

Quick eligibility check

Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.

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