Natural History Study of Patients With Canavan Disease

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.

Study Overview

• Status: Recruiting
• Conditions: Canavan Disease

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 Type: Observational
• Enrollment (Estimated): 40

Contacts and Locations

• Study Contact: Name: Michelle Nelken; Phone Number: 833-764-2267 or 617-861-4617; Email: CANinform@aspatx.com
• Study Contact Backup: Name: clinicaltrials@aspatx.com

Study Locations

• Germany
  • Hamburg, Germany, 20246
    • Recruiting
    • University Medical Center Hamburg-Eppendorf
    • Principal Investigator: Annette Bley, MD
    • Contact: Ina Ulrichs; Phone Number: 0049(0) 40 7410- 59060; Email: info.ld@uke.de
• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Recruiting
      • Massachusetts General Hospital
      • Principal Investigator: Florian Eichler, MD
      • Contact: Damilola Oje; Phone Number: 617-724-6510; Email: doje@mgh.harvard.edu
  • New York
    • New York, New York, United States, 10016
      • Withdrawn
      • NYU Langone Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Living and deceased patients with Canavan disease

Description

Inclusion Criteria:

1. Meet age criteria of a specific cohort. Note: In the case of a deceased patient whose parent(s) and/or legal guardian(s) have provided informed consent for study participation, the Investigator will review the patient's medical record(s) to determine study eligibility.
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.

Exclusion Criteria:

1. Patient does not meet the Inclusion Criteria.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort
Cohort 5 (Deceased); • The patient's medical history records will be reviewed. In addition, a parent interview will be performed.
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	approximately 3 years

Collaborators and Investigators

• Sponsor: Aspa Therapeutics

Publications and helpful links

Helpful Links

• Aspa Therapeutics Company Website
• CANinform Study Website

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2019
• Primary Completion (Estimated): December 31, 2024
• Study Completion (Estimated): April 30, 2025

Study Registration Dates

• First Submitted: October 10, 2019
• First Submitted That Met QC Criteria: October 11, 2019
• First Posted (Actual): October 14, 2019

Study Record Updates

• Last Update Posted (Actual): July 12, 2023
• Last Update Submitted That Met QC Criteria: July 10, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Keywords: Leukodystrophy; AAV; Gene therapy; Rare disease; Autosomal Recessive Disorder; AAV9; Canavan Disease; Aspartoacylase; ASPA; ASPA gene; rAAV9; ACY2; Aminoacylase 2; Spongy degeneration; N-acetyl-L-aspartic acid (NAA); N-acetylaspartate; Inherited Metabolic Disorders; Leukoencephalopathies; Neurodevelopmental diseases
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Demyelinating Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Leukoencephalopathies; Hereditary Central Nervous System Demyelinating Diseases; Canavan Disease
• Other Study ID Numbers: CVN-101; CANinform (Other Identifier: Aspa Therapeutics)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data will be made available for researchers using a defined process.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No