Natural History Study of Patients With Canavan Disease

Study Overview
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Brief Summary
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This study uses medical records that allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments collect data relevant to the natural history of Canavan disease in children.

Detailed Description
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The CANinform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection includes extraction of retrospective data from medical records of living and deceased patients, and collection of prospective, longitudinal data from living patients and their parent(s)/caregiver(s). Motor function assessments are performed remotely in the home via video or in the clinic by qualified study team members. Families will be invited to attend clinic visits and/or will be followed remotely by the clinical site for approximately 3 years.

Official Title
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A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease

Conditions
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Canavan Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Meet age criteria of a specific cohort. Note: In the case of a deceased patient whose parent(s) and/or legal guardian(s) have provided informed consent for study participation, the Investigator will review the patient's medical record(s) to determine study eligibility. Confirmed clinical and biochemical diagnosis of Canavan disease. Available medical records since birth that permit documentation of disease characteristics and developmental milestones. Parent and/or legal guardian is able to read, understand, and sign the informed consent. Exclusion Criteria: 1. Patient does not meet the Inclusion Criteria.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cohort 1 (Age < 18 Months)<br>Motor function assessments (remote or in-clinic) every 2 months Clinic assessments every 6 months | |
| Cohort 2 (Age ≥ 18 Months - 3 Years)<br>Motor function assessments (remote or in-clinic) every 4 months Clinic assessments every 6 months | |
| Cohort 3 (Age > 3 - 5 Years)<br>Motor function assessments (remote or in-clinic) every 6 months Clinic assessments every 6 months | |
| Cohort 4 (Age > 5 Years)<br>Motor function assessments (remote or in-clinic) 12 months Clinic assessments every 12 months | |
| Cohort 5 (Deceased)<br>• The patient's medical history records will be reviewed. In addition, a parent interview will be performed. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To characterize the natural history of Canavan disease | To enhance the understanding of the natural history of Canavan disease through retrospective data collection from patient medical records and prospective data collection from living patients, including: phenotypic characteristics and variability, genotype characteristics and variability, and disease progression and natural history. | approximately 3 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Canavan Disease, AAV, AAV9, Gene therapy, Aspartoacylase, ASPA, ASPA gene, rAAV9, ACY2, Aminoacylase 2, Spongy degeneration, N-acetyl-L-aspartic acid (NAA), N-acetylaspartate, Rare disease, Inherited Metabolic Disorders, Leukodystrophy, Leukoencephalopathies, Autosomal Recessive Disorder, Neurodevelopmental diseases