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PSAP-related sphingolipidosis

MONDO:0100517

A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.

1 clinical trial for this condition and its sub-types, 0 tagged with PSAP-related sphingolipidosis itself.

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Where it sits in the disease tree

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↑ Sphingolipidosis (166)

Sub-types of PSAP-related sphingolipidosis

Gaucher disease due to saposin C deficiency 1 trial
Krabbe disease due to saposin A deficiency 0 trials
Combined PSAP deficiency 0 trials
Metachromatic leukodystrophy due to saposin B deficiency 0 trials

Including sub-types (1) Tagged with PSAP-related sphingolipidosis (0)

Hope fades: trial of Tay-Sachs drug venglustat terminated early

Disease control Stopped early

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 3 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control

Last updated Jun 27, 2026 09:00 UTC