Natural History Study of Patients With Canavan Disease

Sponsor

Aspa Therapeutics (Industry)

Overall Status

Recruiting

CT.gov ID

NCT04126005

Collaborator

(none)

Enrollment

Locations

35.4

Anticipated Duration (Months)

13.3

Patients Per Site

0.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

This study will use medical records that will allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments will collect data relevant to the natural history of Canavan disease in children.

Condition or Disease	Intervention/Treatment	Phase
Canavan Disease

Detailed Description

CAN-Inform, the Canavan disease natural history study, will be the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection will include 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 will be performed in the home by qualified study team members. In addition, families will be invited to attend clinic visits or will be followed by the clinical site remotely for up to 3 years.

Study Design

Study Type:

Observational

Anticipated Enrollment :

40 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

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

Actual Study Start Date :

Oct 10, 2019

Anticipated Primary Completion Date :

Sep 20, 2022

Anticipated Study Completion Date :

Sep 20, 2022

Arms and Interventions

Arm	Intervention/Treatment
Cohort 1 (Age < 18 Months) In-home visits every 2 months Clinic assessments every 6 months
Cohort 2 (Age ≥ 18 Months - 3 Years) In-home visits every 4 months Clinic assessments every 6 months
Cohort 3 (Age > 3 - 5 Years) In-home visits every 6 months Clinic assessments every 6 months
Cohort 4 (Age > 5 Years) In-home visits every 12 months Clinic assessments every 12 months
Cohort 5 (Deceased) • The patient's medical history records will be reviewed. In addition, a parent interview will be performed.

Outcome Measures

Primary Outcome Measures

To characterize the natural history of Canavan disease [up to 3 years]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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.
Confirmed clinical and biochemical diagnosis of Canavan disease.
Available medical records since birth that permit documentation of disease characteristics and developmental milestones.
Parent and/or legal guardian is able to read, understand, and sign the informed consent.

Exclusion Criteria:

Patient does not meet the Inclusion Criteria.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Massachusetts General Hospital	Boston	Massachusetts	United States	02114
2	NYU Langone Medical Center	New York	New York	United States	10016
3	University Medical Center Hamburg-Eppendorf	Hamburg		Germany	20246