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Natural History Study of Patients With Canavan Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04126005
Recruitment Status : Recruiting
First Posted : October 14, 2019
Last Update Posted : April 27, 2022
Information provided by (Responsible Party):
Aspa Therapeutics

Brief Summary:
This study will use medical records that will allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments will collect data relevant to the natural history of Canavan disease in children.

Condition or disease
Canavan Disease

Detailed Description:
CAN-Inform, the Canavan disease natural history study, will be the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection will include 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 will be performed in the home by qualified study team members. In addition, families will be invited to attend clinic visits or will be followed by the clinical site remotely for up to 3 years.

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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease
Actual Study Start Date : October 10, 2019
Estimated Primary Completion Date : September 20, 2022
Estimated Study Completion Date : September 20, 2022

Cohort 1 (Age < 18 Months)
  • In-home visits every 2 months
  • Clinic assessments every 6 months
Cohort 2 (Age ≥ 18 Months - 3 Years)
  • In-home visits every 4 months
  • Clinic assessments every 6 months
Cohort 3 (Age > 3 - 5 Years)
  • In-home visits every 6 months
  • Clinic assessments every 6 months
Cohort 4 (Age > 5 Years)
  • In-home visits every 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.

Primary Outcome Measures :
  1. To characterize the natural history of Canavan disease [ Time Frame: up to 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.

Biospecimen Retention:   Samples With DNA
Hematology, blood chemistry, urinalysis, genetic mutation confirmation, antibody testing

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Living and deceased patients with Canavan disease

Inclusion Criteria:

  1. Meet age criteria of a specific cohort. Note: In the case of a deceased patient whose parent(s) and/or legal guardian(s) have provided informed consent for study participation, the Investigator will review the patient's medical record(s) to determine study eligibility.
  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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04126005

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Contact: Canavan Disease Program Call Center 833-764-2267 or 617-861-4617
Contact: David Rintell, Ed.D., VP, Head of Patient Advocacy 617-734-6778

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United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Stacy Maciel    619-606-3901   
Principal Investigator: Florian Eichler, MD         
United States, New York
NYU Langone Medical Center Withdrawn
New York, New York, United States, 10016
University Medical Center Hamburg-Eppendorf Recruiting
Hamburg, Germany, 20246
Contact: Christine Fehrs    0049(0) 40 7410- 56391   
Principal Investigator: Annette Bley, MD         
Sponsors and Collaborators
Aspa Therapeutics
Additional Information:
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Responsible Party: Aspa Therapeutics Identifier: NCT04126005    
Other Study ID Numbers: CVN-101
CAN-Inform ( Other Identifier: Aspa Therapeutics )
First Posted: October 14, 2019    Key Record Dates
Last Update Posted: April 27, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data will be made available for researchers using a defined process.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Aspa Therapeutics:
Canavan Disease
ASPA gene
Aminoacylase 2
Gene therapy
Spongy degeneration
N-acetyl-L-aspartic acid (NAA)
Rare disease
Inherited Metabolic Disorders
Autosomal Recessive Disorder
Neurodevelopmental diseases
Additional relevant MeSH terms:
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Canavan Disease
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
Metabolism, Inborn Errors
Metabolic Diseases