Neuronal ceroid lipofuscinosis
MONDO:0016295A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Also known as: NCL, ceroid lipofuscinoses, neuronal ceroid lipofuscinosis
23 clinical trials for this condition and its sub-types.
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Broader categories
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Gene therapy offers hope for kids with fatal batten disease
Disease control CompletedThis study tested a one-time gene therapy for children with a rare, severe brain disease called variant late infantile Batten disease. The treatment delivers a working CLN6 gene into the spinal fluid to help slow the loss of motor and language skills. The trial included 13 childr…
Phase: PHASE1, PHASE2 • Sponsor: Emily de los Reyes • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Experimental drug miglustat tested for rare batten disease
Disease control CompletedThis study tested the drug miglustat in 6 adults aged 17 and older with CLN3 Batten disease, a rare genetic disorder that causes nerve damage. The goal was to see if the drug is safe and to find the best dose over 2 years. Researchers tracked side effects and how the drug moved t…
Phase: PHASE1, PHASE2 • Sponsor: Beyond Batten Disease Foundation • Aim: Disease control
Last updated Jun 26, 2026 14:56 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC