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Gaucher disease due to saposin C deficiency

MONDO:0012517

Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.

Also known as: Gaucher disease caused by mutation in PSAP, PSAP Gaucher disease, atypical Gaucher disease due to saposin C deficiency, atypical Gaucher's disease due to saposin c deficiency, Gaucher disease, atypical, Gaucher disease, atypical, due to saposin C deficiency

36 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn errors of metabolism (42) Lysosomal storage disease (33) Human disease (14) Sphingolipidosis (4) Disease of genetic or genomic mechanism (2) Lysosomal lipid storage disorder (2)
Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 4 Completed 12 Terminated 1
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  • Hope fades: trial of Tay-Sachs drug venglustat terminated early

    Disease control Terminated

    This Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…

    Phase: PHASE3 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control

    Last updated Jun 27, 2026 09:00 UTC

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