Late infantile neuronal ceroid lipofuscinosis
MONDO:0015674A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
Also known as: Jansky-Bielschowsky disease, LINCL, late infantile NCL, late-infantile neuronal ceroid lipofuscinosis, Bielschowsky-jansky disease, Bielschowsky-jansky type neuronal ceroid lipofuscinosis, amaurotic idiocy early juvenile type, amaurotic idiocy late infantile type
30 clinical trials for this condition and its sub-types.
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Broader categories
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One-Time gene injection aims to slow rare fatal brain disease in kids
Disease control OngoingThis early-stage study tests a one-time gene therapy injection into the spinal fluid of children aged 1-18 with CLN7 Batten disease, a rare and fatal genetic brain disorder. The main goal is to check safety, but researchers will also measure changes in movement, thinking, and vis…
Phase: PHASE1 • Sponsor: Benjamin Greenberg • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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Gene therapy for rare brain disease tracked over years
Disease control OngoingThis study follows 10 people with CLN6 Batten disease who received a single dose of gene therapy (AT-GTX-501) in an earlier trial. Researchers are checking long-term safety and how the disease progresses over time. No new treatment is given in this follow-up.
Sponsor: Emily de los Reyes • Aim: Disease control
Last updated Jun 27, 2026 07:52 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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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