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.
17 clinical trials for this condition and its sub-types.
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Broader categories
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New pill shows promise for rare childhood diseases
Disease control Recruiting nowThis phase 2 trial is testing the drug mirdametinib in 40 people aged 2 and older with Langerhans cell histiocytosis or similar disorders. The goal is to see if this oral medication works better and has fewer side effects than current treatments. Participants take the drug twice …
Phase: PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 26, 2026 18:37 UTC
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Experimental cell shot aims to boost brain repair in kids with rare metabolic diseases
Disease control Recruiting nowThis early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…
Phase: PHASE1 • Sponsor: Joanne Kurtzberg, MD • Aim: Disease control
Last updated Jun 26, 2026 14:27 UTC
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500 patients needed to unlock secrets of rare histiocytic disorders
Knowledge-focused Recruiting nowThis study at Mayo Clinic will collect medical histories and blood, fluid, or tissue samples from 500 people with histiocytic disorders. Researchers will analyze these samples for molecular markers like BRAF V600E and PD-L1 to better understand the diseases. The goal is to gather…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Simple blood test may uncover rare diseases in myeloma patients
Knowledge-focused Recruiting nowThis study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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New study tracks safety of enzyme therapy in babies with rare genetic disease
Knowledge-focused Recruiting nowThis study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC