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

NCT03822650 | Completed

• 1 other identifier: CLN-100
• Study Type: observational
• Target: 37
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Ceroid Lipofuscinosis, Neuronal 5

Keywords

CLN; NCL; Batten

Outcome Measures

Primary Outcomes (2)

• Unified Batten Disease Rating Scale (UBDRS)

  Disease-specific clinical assessment used to assess physical, seizure, behavioral and functional capabilities. For physical assessments scores range from 0 to 4 with the score of 4 being most severe.

  3 years

• Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale)

  Disease specific tool used to capture 4 domains including motor function, seizures, visual function and language. Each sub-scale can be scored from 0-3 points in which 0 represents loss of function.

  3 years

Secondary Outcomes (3)

• Electroencephalography (EEG)

  3 years

• Vineland Adaptive Behavior Scale, 2nd Edition (Vineland-II)

  3 years

• Caregiver Global Impression of Change (CaGI-C)

  3 years

Study Arms (2)

Prospective

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

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a confirmed genetic diagnosis of CLN5.

You may qualify if:

• 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.
• For Prospective Arm only:
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Neurogene Inc.: lead

Study Sites (1)

University of Rochester Medical Center

Rochester, New York, 14642, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Ceroid lipofuscinosis, neuronal 5

Study Officials

• Elise Beausoleil

  Neurogene Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 27, 2019
• First Posted: January 30, 2019
• Study Start: March 13, 2019
• Primary Completion: May 30, 2024
• Study Completion: May 30, 2024
• Last Updated: June 27, 2024

Record last verified: 2024-06

Locations

US (1)