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

Recruiting

• Conditions: Canavan Disease

• Registration Number: NCT04126005
• Lead Sponsor: Aspa Therapeutics

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.

Study Timeline

• Study Start: 2019-10-10
• Study First Submitted: 2019-10-10
• Study First Submitted QC: 2019-10-11
• Study First Posted: 2019-10-14
• Status Verified: 2024-10
• Last Update Submitted: 2025-01-09
• Last Update Posted: 2025-01-10
• Primary Completion: 2025-12-31
• Study Completion: 2026-04-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 70

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (4)

UCSF Benioff Children's Hospital Oakland; 🇺🇸 Oakland, California, United States

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States

NYU Langone Medical Center; 🇺🇸 New York, New York, United States

University Medical Center Hamburg-Eppendorf; 🇩🇪 Hamburg, Germany