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

Neurogene

Status: Completed

Conditions: Ceroid Lipofuscinosis, Neuronal 5

Study type: Observational

Funder types: Industry

Identifiers

NCT03822650

CLN-100

Details and patient eligibility

About

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.

Full description

Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the eye, brain, skin, muscle and other cells.

CLN5 is a type of NCL, caused by homozygous or bi-allelic heterozygous variants in the CLN5 gene. Lack of CLN5 protein impairs the breakdown of certain proteins, leads to defective lysosomal trafficking, resulting in accumulation of toxic material and subsequent cell damage. CLN5 disease presents in childhood with neurological findings including motor clumsiness and attention disturbances, followed by progressive visual failure, psychomotor depression, epilepsy, and premature death.

No investigational product will be provided in the study.

Enrollment: 37 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

1. Age at disease onset of ≤ 5 years of age.
2. Molecular genetic diagnosis confirming the presence of pathogenic or likely pathogenic variant(s) on both alleles (biallelic) of the CLN5 gene.

For Prospective Arm only:

1. Subject age of ≤ 9 years.
2. Hamburg motor and vision score of ≥ 1 at time of consent.
3. Subject must have a caregiver available to support the subject and attend visits with the subject.

Exclusion Criteria - All Subjects:

1. Has another neurologic disease or illness that may have caused cognitive decline before study entry.
2. Has a known pathogenic or clinically suspected mutation in a seizure associated genetic mutation besides CLN5.
3. Any prior participation in a study in which a gene therapy vector or stem cell transplantation was administered.
4. 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.

Trial design

37 participants in 2 patient groups

Prospective

Description:

Subjects who meet eligibility criteria and enroll in the prospective arm will be assessed every 6 months ± 4 weeks for a period of up to 3 years, according to the Schedule of Assessments. Subjects in the Prospective arm may also participate in the Retrospective arm.

Retrospective

Description:

Upon confirmation of eligibility criteria, the site will obtain an Informed Consent/Assent form and release of medical records from the subject/legally authorized representative to allow review of the medical records from the subject's primary care physician and/or specialists to confirm the CLN5 diagnosis and disease course. To facilitate collection of the medical records, a caregiver interview will be completed at initial enrollment then once yearly for up to 3 years.