Natural History Study of Patients With Canavan Disease
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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. |
ClinicalTrials.gov Identifier: NCT04126005 |
Recruitment Status :
Recruiting
First Posted : October 14, 2019
Last Update Posted : April 27, 2022
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Condition or disease |
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Canavan Disease |
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 |

Group/Cohort |
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Cohort 1 (Age < 18 Months)
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Cohort 2 (Age ≥ 18 Months - 3 Years)
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Cohort 3 (Age > 3 - 5 Years)
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Cohort 4 (Age > 5 Years)
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Cohort 5 (Deceased)
• The patient's medical history records will be reviewed. In addition, a parent interview will be performed.
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- 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

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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 |
Inclusion Criteria:
- 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.
- 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.

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 ClinicalTrials.gov identifier (NCT number): NCT04126005
Contact: Canavan Disease Program Call Center | 833-764-2267 or 617-861-4617 | CanavanMedRec@veristat.com | |
Contact: David Rintell, Ed.D., VP, Head of Patient Advocacy | 617-734-6778 | clinicaltrials@aspatx.com |
United States, Massachusetts | |
Massachusetts General Hospital | Recruiting |
Boston, Massachusetts, United States, 02114 | |
Contact: Stacy Maciel 619-606-3901 smaciel@mgh.harvard.edu | |
Principal Investigator: Florian Eichler, MD | |
United States, New York | |
NYU Langone Medical Center | Withdrawn |
New York, New York, United States, 10016 | |
Germany | |
University Medical Center Hamburg-Eppendorf | Recruiting |
Hamburg, Germany, 20246 | |
Contact: Christine Fehrs 0049(0) 40 7410- 56391 info.ld@uke.de | |
Principal Investigator: Annette Bley, MD |
Responsible Party: | Aspa Therapeutics |
ClinicalTrials.gov 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. |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
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 |
Canavan Disease Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Leukoencephalopathies Demyelinating Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Genetic Diseases, Inborn Metabolism, Inborn Errors Metabolic Diseases |