Natural History Study of Patients With Canavan Disease (CANinform Study)

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04126005

Enrollment

Registered

2019-10-14

Start date

2019-10-10

Completion date

2025-08-31

Last updated

2026-04-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Canavan Disease

Keywords

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, CANinform Study

Brief summary

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

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

1. Meet age criteria of a specific cohort. 2. Confirmed clinical and biochemical diagnosis of Canavan disease. 3. Available medical records since birth that permit documentation of disease characteristics and developmental milestones. 4. 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.

Design outcomes

Primary

Measure	Time frame	Description
To characterize the natural history of Canavan disease	approximately 3 years	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.

Countries

Germany, United States

Outcome results