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

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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

University Medical Center Hamburg-Eppendorf, Hamburg, Germany

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Patient does not meet the Inclusion Criteria.

Treatment and study plan

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.

Sponsors and collaborators

Lead sponsor

Aspa Therapeutics

Industry

Registry information

Official study title

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

Important dates

Study start: 2019
Primary completion: 2025
Study completion: 2025
First posted: Oct 14, 2019
Registry last updated: Apr 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting