Neuronal ceroid lipofuscinosis 2
MONDO:0008769A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Also known as: late infantile neuronal ceroid lipofuscinosis, CLN2, TPP1 neuronal ceroid lipofuscinosis, ceroid lipofuscinosis, neuronal, type 2, neuronal ceroid lipofuscinosis caused by mutation in TPP1, neuronal ceroid lipofuscinosis type 2, CLN2 disease, CLN2 disease, juvenile (subtype)
9 clinical trials for this condition and its sub-types.
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Broader categories
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Eye injection may save sight in kids with rare batten disease
Disease control OngoingThis study tests whether injecting a replacement enzyme directly into the eye can slow or stop vision loss in children with CLN2 Batten disease, a rare genetic disorder that causes blindness and brain damage. Five children aged 2 to 6 who already receive brain infusions of the en…
Phase: PHASE1, PHASE2 • Sponsor: David L Rogers, MD • Aim: Disease control
Last updated Jun 27, 2026 12:26 UTC
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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Rare disease drug safety tracked in new observational study
Knowledge-focused OngoingThis study follows 35 children with CLN2 disease (a rare, severe brain disorder) who are taking cerliponase alfa (Brineura). Researchers will monitor for side effects and serious reactions over time. The goal is to better understand the long-term safety of this enzyme replacement…
Sponsor: BioMarin Pharmaceutical • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Rare brain disease study seeks to unlock mysteries of atypical TPP1 deficiency
Knowledge-focused OngoingThis study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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New study aims to measure how CLN2 disease affects Children's development
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at how children with CLN2 Batten disease develop over time, including their thinking, language, and motor skills. Researchers will compare children who receive treatment (cerliponase alfa) with those who do not. The goal is to find better ways to measure the dise…
Sponsor: Jessica Scherr • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC