Canavan Disease
Conditions
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, CANaspire Clinical Trial
Brief summary
The main objective of this trial is to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants with Canavan disease.
Detailed description
Canavan disease is an ultra-rare, profoundly disabling and fatal disease with no approved therapy. The Sponsor is developing BBP-812, an investigational gene therapy product for systemic delivery in participants with Canavan disease. BBP-812 is a recombinant adeno-associated virus serotype 9 (rAAV9) vector engineered to deliver the aspartoacylase (ASPA) transgene under control of a ubiquitous promoter to restore ASPA expression in both neuronal and non-neuronal cell types.
Interventions
BIOLOGICALAAV9 BBP-812
Sterile solution for injection for 1-time use via volumetric infusion pump
Sponsors
Aspa Therapeutics
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 30 Months
Healthy volunteers
No
Inclusion 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of Participants with Adverse Events (AEs) | Baseline up to Week 52 |
| Change from Baseline to 12 Months Post-Infusion in Urine N-acetylaspartate (NAA) Levels | Baseline, Month 12 |
| Change from Baseline to 12 Months Post-Infusion in Central Nervous System (CNS) NAA, as Measured by Magnetic Resonance Spectroscopy (MRS) | Baseline, Month 12 |
Secondary
| Measure | Time frame |
|---|---|
| Change from Baseline to Week 52 in Gross Motor Assessment, Gross Motor Function Measure-88 | Baseline, Week 52 |
| Change from Baseline to Week 52 in Fine Motor Assessment, Bayley-4 | Baseline, Week 52 |
| Change from Baseline to Week 52 in Cognitive Assessment, Bayley-4 | Baseline, Week 52 |
| Change from Baseline to Week 52 in Communication Assessment, Bayley-4 | Baseline, Week 52 |
| Change from Baseline to Week 52 in Adaptive Function, Vineland-3 | Baseline, Week 52 |
Countries
United States
Contacts
CONTACTAlicia Gomez
CONTACTclinicaltrials@aspatx.com
Outcome results
None listed