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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.

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

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Sub-types

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

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

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