A Study of AAV9 Gene Therapy in Participants With Canavan Disease

a study on Canavan Disease

Summary

Eligibility
for people ages up to 30 months (full criteria)
Location
at Oakland, California and other locations
Dates
study started
completion around
Principal Investigator
by Alexander Fay, MD

Description

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.

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

Details

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.

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, AAV9 BBP-812

Eligibility

You can join if…

Open to people ages up to 30 months

  • 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

You CAN'T join if...

  • 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

Locations

  • UCSF Benioff Children's Hospital Oakland accepting new patients
    Oakland California 94609 United States
  • Ann & Robert H. Lurie Children's Hospital of Chicago not yet accepting patients
    Chicago Illinois 60611 United States
  • Weill Cornell Medicine; Division of Pediatric Neurology accepting new patients
    New York New York 10065 United States
  • Massachusetts General Hospital (MGH); Center for Rare Neurological Diseases (CRND) accepting new patients
    Boston Massachusetts 02114 United States

Lead Scientist at UCSF

  • Alexander Fay, MD
    Associate Professor, Neurology, School of Medicine. Authored (or co-authored) 15 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Aspa Therapeutics
Links
Aspa Therapeutics Company Website Canavan Disease Program Website
ID
NCT04998396
Phase
Phase 1/2 Canavan Disease Research Study
Study Type
Interventional
Participants
Expecting 18 study participants
Last Updated
Contact us about this trial