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Tay-Sachs disease AB variant
MONDO:0010099GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
Also known as: hexosaminidase activator deficiency, Ab variant GM2-gangliosidosis, GM2 activator deficiency, GM2 gangliosidosis, AB variant, GM2-gangliosidosis, AB variant, Tay-Sachs disease, AB variant
47 clinical trials for this condition and its sub-types.
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AI boosts brain scan accuracy in massive new trial
Diagnosis ENROLLING_BY_INVITATIONThis study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…
Sponsor: Yaou Liu • Aim: Diagnosis
Last updated Jun 27, 2026 11:00 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Could a headset at home boost brain recovery? new study tests tDCS for stroke, tumors, and neurodegeneration
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…
Phase: NA • Sponsor: Mayo Clinic • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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NIH launches major study to unravel mysteries of rare genetic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC