Not currently recruiting at University of California Health

Natural History Study of Patients With Canavan Disease (CANinform Study)

a study on Canavan Disease

Summary

Location
at UCSF
Dates
study started
completion around
Principal Investigator
by Alexander Fay, MD (ucsf)

Description

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.

Official Title

A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease

Details

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.

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, Deceased

Eligibility

You can join if…

  1. Meet age criteria of a specific cohort.
  2. Confirmed clinical and biochemical diagnosis of Canavan disease.
  3. Available medical records since birth that permit documentation of disease characteristics and developmental milestones.
  4. Parent and/or legal guardian is able to read, understand, and sign the informed consent.

You CAN'T join if...

  1. Patient does not meet the Inclusion Criteria.

Locations

  • UCSF Benioff Children's Hospital Oakland not yet accepting patients
    Oakland California 94609 United States
  • NYU Langone Medical Center withdrawn
    New York New York 10016 United States
  • Massachusetts General Hospital in progress, not accepting new patients
    Boston Massachusetts 02114 United States
  • University Medical Center Hamburg-Eppendorf accepting new patients
    Hamburg 20246 Germany

Lead Scientist at University of California Health

  • Alexander Fay, MD (ucsf)
    Associate Professor, Neurology, School of Medicine. Authored (or co-authored) 16 research publications

Details

Status
accepting new patients at some sites,
but this study is not currently recruiting here
Start Date
Completion Date
(estimated)
Sponsor
Aspa Therapeutics
Links
Aspa Therapeutics Company Website CANinform Study Website
ID
NCT04126005
Study Type
Observational
Participants
Expecting 70 study participants
Last Updated