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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03822650
Recruitment Status : Recruiting
First Posted : January 30, 2019
Last Update Posted : March 9, 2023
Information provided by (Responsible Party):
Neurogene Inc.

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.

Condition or disease
Ceroid Lipofuscinosis, Neuronal 5

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: A Natural History and Outcome Measure Discovery Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)
Actual Study Start Date : March 13, 2019
Estimated Primary Completion Date : January 2026
Estimated Study Completion Date : January 2026


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.

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.

Primary Outcome Measures :
  1. Unified Batten Disease Rating Scale (UBDRS) [ Time Frame: 3 years ]
    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.

  2. Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale) [ Time Frame: 3 years ]
    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.

Secondary Outcome Measures :
  1. Electroencephalography (EEG) [ Time Frame: 3 years ]
    EEG records electrical brain activity and Interictal discharges (location, focal/generalized, etc) will be compared to baseline and characterized over time.

  2. Vineland Adaptive Behavior Scale, 2nd Edition (Vineland-II) [ Time Frame: 3 years ]
    Standard assessment measuring communication, socializing, and daily living skills to assess their overall adaptive functioning for individuals up to 90 years of age. A higher score generally corresponds with higher adaptive function.

  3. Caregiver Global Impression of Change (CaGI-C) [ Time Frame: 3 years ]
    The CaGI-C is a caregiver reported outcome measure designed to assess any change in the subject's presentation over the preceding 7 days, as compared to the previous visit.

Biospecimen Retention:   Samples With DNA
whole blood

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a confirmed genetic diagnosis of CLN5.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03822650

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Contact: Contact Center 877-237-5020

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United States, New York
University of Rochester Medical Center Recruiting
Rochester, New York, United States, 14642
Contact: Amy Vierhile, RN         
Sponsors and Collaborators
Neurogene Inc.
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Study Director: Elise Beausoleil Neurogene Inc.
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Responsible Party: Neurogene Inc. Identifier: NCT03822650    
Other Study ID Numbers: CLN-100
First Posted: January 30, 2019    Key Record Dates
Last Update Posted: March 9, 2023
Last Verified: March 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Neurogene Inc.:
Additional relevant MeSH terms:
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Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases