A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease
Overview
- Phase
- Not Applicable
- Intervention
- Cohort 4 (Age > 5 Years)
- Conditions
- Canavan Disease
- Sponsor
- Aspa Therapeutics
- Enrollment
- 67
- Locations
- 4
- Primary Endpoint
- To characterize the natural history of Canavan disease
- Status
- Completed
- Last Updated
- 15 days ago
Overview
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Meet age criteria of a specific cohort.
- •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.
Arms & Interventions
Cohort 4 (Age > 5 Years)
* Motor function assessments (remote or in-clinic) 12 months * Clinic assessments every 12 months
Cohort 5 (Deceased)
• The patient's medical history records will be reviewed. In addition, a parent interview will be performed.
Cohort 2 (Age ≥ 18 Months - 3 Years)
* Motor function assessments (remote or in-clinic) every 4 months * Clinic assessments every 6 months
Cohort 1 (Age < 18 Months)
* Motor function assessments (remote or in-clinic) every 2 months * Clinic assessments every 6 months
Cohort 3 (Age > 3 - 5 Years)
* Motor function assessments (remote or in-clinic) every 6 months * Clinic assessments every 6 months
Outcomes
Primary Outcomes
To characterize the natural history of Canavan disease
Time Frame: 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.