Gene therapy for children with Canavan disease
Official title: A Phase 1/2 Open-Label Study of the Safety and Clinical Activity of Gene Therapy for Canavan Disease Through Administration of an Adeno-Associated Virus (AAV) Serotype 9-Based Recombinant Vector Encoding the Human ASPA Gene
Run by Aspa Therapeutics · NCT04998396 · Data updated 2026-11-12
This study is testing a new gene therapy for children with Canavan disease to see if it can help improve their condition.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Ages | Any age to 30 Months |
| Sex | All |
| Enrollment | 26 (estimated) |
| Sponsor | Aspa Therapeutics Industry-sponsored |
| Locations | 4 sites (Oakland, California and 3 other locations) |
| Status | Recruiting |
| Started | September 8, 2021 |
| Main results expected | October 13, 2026 |
| Study ends | October 8, 2032 |
| Registry record updated | April 17, 2026 |
| Trial ID | NCT04998396 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are pediatric patients under 30 months with a confirmed diagnosis of Canavan disease and stable health.
✕Probably not a fit
Patients who have previously received gene therapy involving AAV or have significantly progressed Canavan disease may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This clinical trial evaluates the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants diagnosed with Canavan disease. The therapy aims to deliver the aspartoacylase (ASPA) transgene to restore ASPA expression in both neuronal and non-neuronal cells. Participants must be under 30 months of age and have a confirmed diagnosis of Canavan disease, with specific biochemical and genetic markers. The trial is designed to assess the potential of this gene therapy to provide a new treatment option for this ultra-rare and debilitating condition.
Why it matters
Potential benefit: If successful, this gene therapy could provide a much-needed treatment option for children suffering from Canavan disease, potentially improving their quality of life.
How similar studies have gone: While gene therapy approaches for other conditions have shown promise, this specific application for Canavan disease is novel and untested.
Who can join: the full rules
Show full inclusion / exclusion criteria
Key Inclusion Criteria: * Maximum age for inclusion is 30 months. * Participant has stable health in the opinion of the investigator and as confirmed by medical history and laboratory studies with no acute or chronic hematologic, renal, liver, immunologic, or neurologic disease (other than Canavan disease). * Participant has biochemical, genetic, and clinical diagnosis of Canavan disease: * Elevated urinary NAA and * Biallelic mutation of the ASPA gene determined at Screening or documented in the participant's medical history. * Active clinical signs of Canavan disease * Participant is up to date on all immunizations per local guidelines Key Exclusion Criteria: * Tests positive for total anti-AAV9 antibodies determined by enzyme-linked immunosorbent assay (ELISA). * Received prior gene therapy or other therapy (including vaccines) involving AAV. * Participant is receiving high-dose therapy with immunosuppressants. * Participant has significantly progressed Canavan disease characterized as: * Presence of continuous/constant decerebrate or decorticate posturing, * Recurrent status epilepticus, or * Recalcitrant seizures that do not respond while on 3 or more anti-epileptic medications
Where it's running
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UCSF Benioff Children's Hospital Oakland
Oakland, California, United States Recruiting -
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States Recruiting -
Massachusetts General Hospital (MGH); Center for Rare Neurological Diseases (CRND)
Boston, Massachusetts, United States Recruiting -
Weill Cornell Medicine; Division of Pediatric Neurology
New York, New York, United States Completed
Study contacts
- Study coordinator: Alicia Gomez
- Email: CANaspire@aspatx.com
- Phone: 833-764-2267 or 617-861-4617
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.