Neuronal ceroid lipofuscinosis 1
MONDO:0009744A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Also known as: CLN1, CLN1 disease, CLN1 variable age at onset, PPT1 neuronal ceroid lipofuscinosis, ceroid lipofuscinosis neuronal 1, ceroid lipofuscinosis, neuronal, 1, ceroid lipofuscinosis, neuronal, 1, variable Age at onset, ceroid lipofuscinosis, neuronal, type 1
2 clinical trials for this condition and its sub-types.
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Scientists launch major study to unlock secrets of deadly batten disease
Knowledge-focused Recruiting nowThis study follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Scientists track batten disease to unlock its secrets
Knowledge-focused Recruiting nowThis study follows 500 children and adults with Batten disease to learn how the condition naturally changes over time. Researchers will measure movement, thinking, behavior, and daily function using a special rating scale. The goal is to better understand the disease and improve …
Sponsor: University of Rochester • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:36 UTC