We are experiencing 4 week turn-around time in review of submissions and resubmissions. We recommend commencing this process concurrently with your ethics submission and allowing at least 8 weeks for registration to be completed from date of first submission. We currently do not have the capacity to expedite reviews.

Note also there are delays to review of updates. We appreciate your patience.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT03090789




Registration number
NCT03090789
Ethics application status
Date submitted
10/03/2017
Date registered
27/03/2017
Date last updated
29/04/2021

Titles & IDs
Public title
FA Clinical Outcome Measures
Scientific title
Clinical Outcome Measures in Friedreich's Ataxia
Secondary ID [1] 0 0
01-002609
Universal Trial Number (UTN)
Trial acronym
FA-COMS
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Friedreich Ataxia 0 0
Neuro-Degenerative Disease 0 0
Condition category
Condition code
Neurological 0 0 0 0
Other neurological disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Neurological 0 0 0 0
Neurodegenerative diseases

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Study Participant - Study participants can be individuals with either a clinical diagnosis or genetic confirmation of Friedreich ataxia. In addition, this study enrolls Friedreich ataxia carriers and unaffected controls.

Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Friedreich Ataxia Rating Scale - rating scale based on clinical neurologic examination
Timepoint [1] 0 0
once every 1 year
Secondary outcome [1] 0 0
9-hole peg test - timed test of fine motor skills performed as a set of four trials (two trials per hand), for patients with FA who are able to complete this testing
Timepoint [1] 0 0
once every 1 year
Secondary outcome [2] 0 0
timed 25 foot walk - timed 25 foot walk is performed twice for patients with FA who are able to complete this testing. Assistive devices such as canes, service dogs, walkers, or crutches are permitted.
Timepoint [2] 0 0
once every 1 year
Secondary outcome [3] 0 0
Vision assessment - High and low contrast visual acuity tested on patients with FA who are able to perform this test. Glasses or contact lenses are permitted.
Timepoint [3] 0 0
once every 1 year
Secondary outcome [4] 0 0
Quality of Life Questionnaires - a set of quality of life questionnaires is administered for study participants with Friedreich ataxia. Questionnaires include items such as activities of daily living, overall opinion on health and function, and fatigue-related questions.
Timepoint [4] 0 0
once every 1 year

Eligibility
Key inclusion criteria
1. Males or females age 4 to 80 years.

2. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood
samples this is not required).

3. Clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a
commercial or research laboratory (for carrier/control cheek swab and blood samples
this is not required).

4. Parental/guardian permission (informed consent) and if appropriate, child assent.
Minimum age
4 Years
Maximum age
80 Years
Gender
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Murdoch Childrens Research Institute - Parkville
Recruitment postcode(s) [1] 0 0
3052 - Parkville
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Colorado
Country [3] 0 0
United States of America
State/province [3] 0 0
Florida
Country [4] 0 0
United States of America
State/province [4] 0 0
Georgia
Country [5] 0 0
United States of America
State/province [5] 0 0
Iowa
Country [6] 0 0
United States of America
State/province [6] 0 0
Ohio
Country [7] 0 0
United States of America
State/province [7] 0 0
Pennsylvania
Country [8] 0 0
Canada
State/province [8] 0 0
Ontario
Country [9] 0 0
Canada
State/province [9] 0 0
Quebec
Country [10] 0 0
New Zealand
State/province [10] 0 0
Auckland

Funding & Sponsors
Primary sponsor type
Other
Name
Children's Hospital of Philadelphia
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Friedreich's Ataxia Research Alliance
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
University of Rochester
Address [2] 0 0
Country [2] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
This multicenter natural history study aims to expand the network of clinical research
centers in FA, and to provide a framework for facilitating therapeutic interventions. In
addition, this study will lead to the development of valid yet sensitive clinical measures
crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support
genetic modifier studies, biomarker studies, and frataxin protein level assessments by
building a sample repository.
Trial website
https://clinicaltrials.gov/show/NCT03090789
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
David Lynch, MD PhD
Address 0 0
Children's Hospital of Philadelphia
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Jennifer Farmer, MS CGC
Address 0 0
Country 0 0
Phone 0 0
484-879-6160
Fax 0 0
Email 0 0
jen.farmer@curefa.org
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT03090789