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

NCT04126005 | Completed

• 2 other identifiers: CVN-101CANinform
• Study Type: observational
• Target: 67
• Locations: 2 countries
• Sites: 3

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (5)

Cohort 1 (Age < 18 Months)

* Motor function assessments (remote or in-clinic) every 2 months * Clinic assessments every 6 months

Cohort 2 (Age ≥ 18 Months - 3 Years)

* Motor function assessments (remote or in-clinic) every 4 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

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Living and deceased patients with Canavan disease

You may qualify if:

• 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.

Sponsors & Collaborators

• Aspa Therapeutics: lead

Study Sites (3)

UCSF Benioff Children's Hospital Oakland

Oakland, California, 94609, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

University Medical Center Hamburg-Eppendorf

Hamburg, 20246, Germany

Location

Related Links

• Aspa Therapeutics Company Website
• CANinform Study Website

Biospecimen

Retention: SAMPLES WITH DNA

Hematology, blood chemistry, urinalysis, genetic mutation confirmation, antibody testing

MeSH Terms

Conditions

Canavan Disease; Rare Diseases; Leukoencephalopathies

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Demyelinating Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 10, 2019
• First Posted: October 14, 2019
• Study Start: October 10, 2019
• Primary Completion: May 21, 2025
• Study Completion: August 31, 2025
• Last Updated: April 17, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share

Locations

DE (1); US (2)