Acid sphingomyelinase deficiency
MONDO:0100464An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.
16 clinical trials for this condition and its sub-types, 7 tagged with Acid sphingomyelinase deficiency itself.
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Sub-types of Acid sphingomyelinase deficiency
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Niemann-Pick disease type A 4 trials
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Niemann-Pick disease type B 1 trial
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New drug targets tough childhood cancers with genetic flaws
Disease control CompletedThis phase 2 trial tested the drug samotolisib in 18 children and young adults with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that had spread, returned, or stopped responding to treatment. Only patients whose tumors had specific mutations in the TSC or…
Phase 2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Tiny study tracks safety of enzyme drug for rare disease
Disease control CompletedThis study followed 3 people with acid sphingomyelinase deficiency (ASMD) who had already completed earlier trials of olipudase alfa. The goal was to monitor safety and side effects while they continued receiving the enzyme replacement therapy every two weeks until the drug was o…
Phase 2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Blood test uncovers rare diseases in patients with mysterious enlarged spleen
Knowledge-focused CompletedThis study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Why do some kids have an enlarged spleen? new study investigates
Knowledge-focused CompletedThis study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden…
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC