Sandhoff disease
MONDO:0010006A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
Also known as: GM2 gangliosidosis 0 variant, GM2 gangliosidosis, 0 variant, Hexosaminidases A and B deficiency, Sandhoff Jatzkewitz disease, Sandhoff disease, Sandhoff disease, adult form, Sandhoff disease, infantile form, Sandhoff disease, juvenile form
19 clinical trials for this condition and its sub-types, 13 tagged with Sandhoff disease itself.
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Sub-types of Sandhoff disease
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Sandhoff disease, adult form 1 trial
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Sandhoff disease, infantile form 0 trials
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Sandhoff disease, juvenile form 0 trials
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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 1 • Sponsor: Joanne Kurtzberg, MD • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Scientists track rare brain diseases to pave way for future cures
Knowledge-focused Recruiting nowThis study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…
Sponsor: University of Minnesota • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC