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A Retrospective, Natural History Study in Children With CLN2

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: NCT04480476
Recruitment Status : Not yet recruiting
First Posted : July 21, 2020
Last Update Posted : February 3, 2021
Information provided by (Responsible Party):
Regenxbio Inc.

Brief Summary:
This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.

Condition or disease
Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Detailed Description:
CLN2 is a rare disease with limited available ocular natural history data. While current standard of care slows motor degeneration, it is not known to treat the ocular manifestations of disease. This study is planned to document, through retrospective data collection, ocular disease progression in children with a clinical presentation consistent with CLN2. No investigational product is administered in this retrospective, chart review study.

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
Estimated Study Start Date : March 31, 2021
Estimated Primary Completion Date : April 2022
Estimated Study Completion Date : April 2022

Primary Outcome Measures :
  1. Characterize retinal structural changes in children with CLN2 [ Time Frame: From first available medical chart through informed consent, an average of 10 years ]
    As assessed in by SD-OCT measures in ophthalmic records of children with CLN2

Secondary Outcome Measures :
  1. Characterize changes in visual function. [ Time Frame: From first available medical chart through informed consent, an average of 10 years ]
    As measured by changes in visual acuity over time in ophthalmic records of children with CLN2.

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 CLN2 Batten Disease

Inclusion Criteria:

A participant is eligible to be included in the study only if all of the following criteria apply:

  1. The participant's legal guardian(s) is(are) willing and able to provide them written, signed informed consent.
  2. The participant has a documented diagnosis of CLN2 disease due to TPP1 deficiency, or has a relative clinically diagnosed with CLN2 disease who has the same CLN2 mutations as the participant
  3. The participant has had one or more eye examinations by an eye care specialist at any time since birth.

Exclusion Criteria:

No exclusion criteria apply to this study.

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): NCT04480476

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Contact: REGENXBIO Patient Advocacy 866-860-0117

Sponsors and Collaborators
Regenxbio Inc.
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Responsible Party: Regenxbio Inc. Identifier: NCT04480476    
Other Study ID Numbers: RGX-381-9102
First Posted: July 21, 2020    Key Record Dates
Last Update Posted: February 3, 2021
Last Verified: February 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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 Regenxbio Inc.:
CLN2, Batten Disease
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