CompletedNot Applicable

A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)

United States37 participantsStarted 2019-03-13

Plain-language summary

CLN5 is a form of Batten Disease, a neurodegenerative disorder in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and has no available treatments. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN5. This natural history study is important to better understand disease course to be able to determine clinically relevant outcome measures for use in future clinical trials.

Who can participate

SexALL

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Inclusion criteria

✓. Age at disease onset of ≤ 5 years of age.
✓. Molecular genetic diagnosis confirming the presence of pathogenic or likely pathogenic variant(s) on both alleles (biallelic) of the CLN5 gene.
✓. Subject age of ≤ 9 years.
✓. Hamburg motor and vision score of ≥ 1 at time of consent.
✓. Subject must have a caregiver available to support the subject and attend visits with the subject.

Exclusion criteria

✕. Has another neurologic disease or illness that may have caused cognitive decline before study entry.
✕. Has a known pathogenic or clinically suspected mutation in a seizure associated genetic mutation besides CLN5.
✕. Any prior participation in a study in which a gene therapy vector or stem cell transplantation was administered.
✕. Participation in other investigational studies and non-interventional studies that have similar study assessments as this protocol while the subject is enrolled in this study is prohibited.

What they're measuring

Unified Batten Disease Rating Scale (UBDRS)

Timeframe: 3 years

Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale)

Timeframe: 3 years

Trial details

NCT IDNCT03822650

SponsorNeurogene Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2024-05-30

View on ClinicalTrials.gov More Ceroid Lipofuscinosis, Neuronal 5 trials