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A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease

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ClinicalTrials.gov Identifier: NCT03822650
Recruitment Status : Suspended (Revising Protocol Based on Expert Feedback)
First Posted : January 30, 2019
Last Update Posted : August 28, 2019
Sponsor:
Information provided by (Responsible Party):
Neurogene, Inc.

Brief Summary:

CLN7 and CLN5 are forms of Batten Disease, and areneurodegenerative disorders in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and have no available treatments.

The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN7 and CLN5. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.


Condition or disease
Ceroid Lipofuscinosis, Neuronal, 7 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.

CLN7 is a type of NCL caused by homozygous or bi-allelic heterozygous variants in CLN7/MFSD8 gene, whose function is poorly characterized. CLN7 presents with neurological signs, including blindness, seizures, progressive deterioration in intellectual and motor capabilities, culminating in premature death in the first or second decade of life.

CLN5 is another 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.

This study aims to prospectively investigate the natural history of CLN7 and CLN5, and concurrently to identify potential outcome measures that could be used in future clinical trials. 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: Prospective
Official Title: A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease
Actual Study Start Date : March 13, 2019
Estimated Primary Completion Date : February 2024
Estimated Study Completion Date : August 2024





Primary Outcome Measures :
  1. Electroencephalography (EEG) [ Time Frame: 5 years ]
    Participants will undergo a 23-hour EEG every 6 months to further characterize the electrographic profile associated with CLN7/CLN5.

  2. Neuropsychological Testing [ Time Frame: 5 years ]
    Participants will undergo questionnaire assessments to quantify cognitive, emotional, and behavioral functioning every 3-12 months, depending upon the assessment.

  3. Ophthalmological Evaluation [ Time Frame: 5 years ]
    Participants will undergo an ophthalmological assessment every 6 months to better characterize the involvement of the eye in CLN7/CLN5.

  4. Visual Evoked Potential (VEP) [ Time Frame: 5 years ]
    VEP is a neurophysiologic test to evaluate electrical signal transmission through the visual pathway from the retina to the visual cortex, that will be performed every 6 months.

  5. Magnetic Resonance Imaging (MRI)/Magnetic Resonance Spectroscopy (MRS) [ Time Frame: 5 years ]
    An MRI scan of the brain will be performed annually to characterize the structural abnormalities associated with CLN7/CLN5. MR spectroscopy will be performed on regions of interest including the thalamus, basal ganglia, subcortical white matter, and cortical structures.



Information from the National Library of Medicine

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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 CLN7 or CLN5.
Criteria

Inclusion Criteria:

  • Participants must have a diagnosis of CLN7 or CLN5 based on clinical presentation and genetic testing (known or suspected pathogenic mutation in CLN7/MFSD8 or CLN5 gene).

Exclusion Criteria:

  • Patients unable to travel to UT Southwestern Medical Center and Children's Health Dallas will not be enrolled in the prospective natural history study collecting standardized clinical data; however, with participant consent, medical records will be obtained, reviewed, and recorded in the natural history database over time.

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 ClinicalTrials.gov identifier (NCT number): NCT03822650


Locations
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United States, Texas
University of Texas Southwestern
Dallas, Texas, United States, 75390
Sponsors and Collaborators
Neurogene, Inc.
Investigators
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Principal Investigator: Saima Kayani, MD UT- Southwestern

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Responsible Party: Neurogene, Inc.
ClinicalTrials.gov Identifier: NCT03822650     History of Changes
Other Study ID Numbers: STU-2018-0226
First Posted: January 30, 2019    Key Record Dates
Last Update Posted: August 28, 2019
Last Verified: August 2019

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