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A Natural History Study of 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. Read our disclaimer for details. Identifier: NCT02851563
Recruitment Status : Completed
First Posted : August 1, 2016
Last Update Posted : November 1, 2019
Universitätsklinikum Hamburg-Eppendorf
Information provided by (Responsible Party):
NYU Langone Health

Brief Summary:
The purpose of this study is to learn more about the natural history of Canavan disease

Condition or disease
Canavan Disease

Detailed Description:

For this study, families of subjects will fill out a Canavan Patient Survey which asks questions about disease development, symptoms and progression. Patients will be seen in Dr. Eichler's Leukodystrophy clinic for standard of care appointments. These appointments will be scheduled every 6 months.

The investigators will also collect MRI images and reports that have already been done or which will be done during participation in the study on a clinical basis.


A patient Global Unique Identifier (GUID) will be used as the identifier for individuals participating in the study in NeuroBANK™. The GUID is an 11-character string that is generated using encryption technology and algorithms licensed by the NCRI from the National Institutes of Health (NIH).

The GUID is generated on a secure website that utilizes 128-bit Secure Socket Layer (SSL). Of note, this website is not linked to NeuroBANK™. The GUID is generated using an irreversible encryption algorithm - it accepts twelve identifying data elements, (e.g. last name at birth, first name at birth, gender at birth, day, month and year of birth, city and country of birth, etc.), and produces a unique random-generated character string, or GUID. No identifying information is stored in the system; it is simply used to generate the GUID. If the same information is entered again, the same GUID will be returned.

The GUID is entered into NeuroBANK™ when the patient is being created in the system. As the same patient may participate in multiple studies, NeuroBANK™ will also allow capturing a study-specific ID for the patient. For more information about NeuroBANK™ or the GUID, please go to:

Data Management:

The NCRI Data Management Team is trained and knowledgeable regarding confidentiality and integrity of data. They will be responsible for all aspects of data procedures. Alex Sherman is the ALD Connect network strategist and member of the NEALS ALS consortium. He is the director of Strategic Development and Systems of NCRI, serves on the Executive Committee of the ALS Research Group, and is one of the leaders of the NEALS ALS Consortium.

Data Quality Checks, Logic Checks and Queries:

The Data Manager (DM) at the Neurological Clinical Research Institute (NCRI) at the Massachusetts General Hospital will conduct monthly Data Quality Checks, Logic Checks, and internal data quality audits. Data field queries will be resolved in an established workflow according to the Standard Operating Procedures (SOPs). The queries may be created either at the point of entry during the data entry process, manually by the NCRI DM, or as the result of executing monthly Logic Checks.

Study-Specific Database Backup and Maintenance:

The NCRI personnel will be responsible for the database backups that will be conducted daily. Simultaneously, a separate copy of the backup in the encrypted compressed format will be maintained and saved by the System Analysts. The backups will be saved on a separate computer partition in a password-protected compressed format and also will be burnt into DVD medium and stored in a secure location.

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Study Type : Observational
Actual Enrollment : 21 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Natural History Study of Canavan Disease: MGH Site
Study Start Date : May 2016
Actual Primary Completion Date : April 2019
Actual Study Completion Date : April 2019

Primary Outcome Measures :
  1. Change in Gross Motor Function Measure over time [ Time Frame: baseline, 6 months, 1 year, 18 months, 2 years ]

Secondary Outcome Measures :
  1. Change in magnetic resonance imaging findings over time [ Time Frame: baseline, 6 months, 1 year, 18 months, 2 years ]

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:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects Diagnosed with Canavan Disease

Inclusion Criteria:

  • The patient must have a confirmed diagnosis of Canavan Disease as defined by elevated NAA levels, decreased ASPA activity, or mutations in the ASPA gene.

Exclusion Criteria:

  • The PI will assess whether it is in the best interest of the patient to exclude them from the study for their own comfort and well being. In cases where the PI deems it appropriate, severely affected patients will be excluded

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): NCT02851563

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United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
United States, New York
NYU Langone Medical Center
New York, New York, United States, 10016
University Medical Center Hamburg-Eppendorf
Hamburg, Germany, 20246
Sponsors and Collaborators
NYU Langone Health
Universitätsklinikum Hamburg-Eppendorf
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Principal Investigator: Florian Eichler, MD Massachusetts General Hospital
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Responsible Party: NYU Langone Health Identifier: NCT02851563    
Other Study ID Numbers: 2015P002400
First Posted: August 1, 2016    Key Record Dates
Last Update Posted: November 1, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data from this study will be stored in a computer data repository at the Massachusetts General Hospital (MGH) Neurological Clinical Research Institute (NCRI). The purpose of this data repository is to capture and store data for clinical research. The repository will combine data from multiple studies. Datasets will be shared with researchers who want to advance understanding of Neurological Disease. These datasets will not contain any personal identifiable information.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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