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.

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.

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.

Living and deceased patients with Canavan disease

Data will be made available for researchers using a defined process.