Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
MONDO:0011897A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Also known as: 4H syndrome, HLD7, hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism, leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition
16 clinical trials for this condition and its sub-types.
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Broader categories
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3D-Printed fork handles could help dementia patients eat on their own
Symptom relief Recruiting nowThis study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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Brain scans and tests aim to unlock secrets of cognitive deficits after injury
Knowledge-focused Recruiting nowThis study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…
Phase: NA • Sponsor: University Hospital, Caen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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NIH launches data repository to fuel future research on rare nerve and muscle diseases
Knowledge-focused Recruiting nowThis study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Researchers launch major study to track rare brain disease over time
Knowledge-focused Recruiting nowThis study follows up to 600 people with leukodystrophy, a rare genetic disorder affecting the brain's white matter. Researchers aim to track how the disease progresses, improve diagnosis through genetic testing and brain scans, and evaluate outcomes like hospitalizations and res…
Sponsor: University of Utah • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC
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Scientists build a 'Cognitive Atlas' for mental and neurological illnesses
Knowledge-focused Recruiting nowThis study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…
Phase: NA • Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Thick liquids might help people with swallowing problems take pills safely
Knowledge-focused Recruiting nowThis study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC