Canavan DiseaseNCT04126005
Natural History Study of Patients With Canavan Disease (CANinform Study)
An observational study of Canavan Disease, run by Aspa Therapeutics at 3 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Canavan Disease
- How many people
- 67 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 10 Oct 2019to 31 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Living and deceased patients with Canavan disease
Who may be able to join
- 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.
Who cannot join
- 1. Patient does not meet the Inclusion Criteria.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
Massachusetts General Hospital
Boston, Massachusetts, 02114
UCSF Benioff Children's Hospital Oakland
Oakland, California, 94609
About this study
Official title: A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease
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.
Read the detailed description
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.
- 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
- Medical subject headings
- Canavan Disease, Rare Diseases, Leukoencephalopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: approximately 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2019
- Study start10 Oct 2019
- Primary completion21 May 2025
- Study completion31 Aug 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Canavan DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 67 participants (actual)
Sponsor and investigators
- Lead sponsor
- Aspa Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04126005
- Sponsor's protocol ID
- CVN-101
- Other IDs
- CANinform
- Status last verified
- Apr 2026
- First submitted
- 10 Oct 2019
- Last updated
- 17 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data will be made available for researchers using a defined process.
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease
- ClinicalTrials.gov ID
- NCT04126005
- Acronym / sponsor ID
- CVN-101
- Conditions
- Canavan Disease
- Keywords
- Canavan Disease, AAV, AAV9, Gene therapy, Aspartoacylase, ASPA, ASPA gene, rAAV9
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 67 participants (actual)
- Lead sponsor
- Aspa TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 10 Oct 2019 (actual)
- Primary completion
- 21 May 2025 (actual)
- Study completion
- 31 Aug 2025 (actual)
- First posted
- 14 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Living and deceased patients with Canavan disease
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- 1. Patient does not meet the Inclusion Criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2026.
- Aspa Therapeutics Company WebsiteLink provided by the sponsor.
- CANinform Study WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Data will be made available for researchers using a defined process.
Related trials for Canavan Disease
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
RecruitingPhase 1/2
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
Canavan Disease
Enrolling by invitationPhase 1/2
rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Canavan Disease
RecruitingObservational study
The Myelin Disorders Biorepository Project
Leukodystrophy, White Matter Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Canavan Disease, run by Aspa Therapeutics at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To characterize the natural history of Canavan disease (time frame: approximately 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2026.