Friedreich AtaxiaFA-COMSNCT03090789
FA Clinical Outcome Measures
An observational study of Friedreich Ataxia and Neuro-Degenerative Disease, run by Friedreich's Ataxia Research Alliance at 14 sites in 5 countries.
Trial 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… Read more about this study
- Who is it for?
- Ages 4 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Friedreich Ataxia, Neuro-Degenerative Disease
- How many people
- 2,000 participants
- Where
- 14 sitesin 5 countries
- Study dates
- 1 Jan 2001to 1 Jan 2030
- How long will I take part?
- 25 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.
Who may be able to join
- Males or females age 4 to 80 years.
- Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
- 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).
- Parental/guardian permission (informed consent) and if appropriate, child assent.
Who cannot join
- 1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)
Trial locations and contacts
14 sites in 5 countries.
14 sites in 5 countries
United States9 sites
Emory University Hospital - Neurology
Atlanta, Georgia, 30329
Ohio State University - Neurology
Columbus, Ohio, 43221
University of Colorado
Denver, Colorado, 80045
University of Florida - Neurology
Gainesville, Florida, 32610
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, 52242
UCLA Ataxia Center
Los Angeles, California, 90095
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Children's Hospital of Philadelphia - Neurology
Philadelphia, Pennsylvania, 19104
USF Ataxia Research Center
Tampa, Florida, 33612
Canada2 sites
CHUM - Hopital Notre-Dame
Montreal, Quebec, h2x0a9
The Hospital for Sick Children
Toronto, Ontario
Australia1 site
Murdoch Childrens Research Institute
Parkville, Victoria, 3052
About this study
Official title: Clinical Outcome Measures in Friedreich's Ataxia
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.
This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.
Read the detailed description
Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for assessing disease progression may be useful, evaluation in clinical trials will require specific clinical outcome measures.
This is a multicenter natural history study which aims to expand the network of clinical research centers specializing in Friedreich's Ataxia and to advance clinical care, research and therapeutic approaches in FA through the development and validation of clinical outcome measures. Study sites aim to collect quantitative serial clinical data on patients with FA and expand the existing research network. In addition, the study will support various genetic modifier studies, biomarker studies, and frataxin protein level assessments in patients with FA, in carriers, and in controls.
This study will recruit up to 2000 patients with Friedreich ataxia worldwide, to be assessed annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can participate.
Study participation involves yearly assessments of a core set of clinical measures and quality of life assessment measures in addition to optional collection of a cheek swab and/or blood sample.
- Conditions
- Friedreich Ataxia, Neuro-Degenerative Disease
- Keywords
- Friedreich Ataxia, Neuro-degenerative disease
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Friedreich Ataxia Rating Scale
rating scale based on clinical neurologic examination
Measured: once every 1 year
Secondary outcomes (4)
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
Measured: once every 1 year
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.
Measured: once every 1 year
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.
Measured: once every 1 year
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.
Measured: once every 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2017
- Study start1 Jan 2001
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 25 Years
Sponsor and investigators
- Lead sponsor
- Friedreich's Ataxia Research Alliance
- Sponsor type
- University, hospital or other
- Collaborators
- University of Rochester, Children's Hospital of Philadelphia
- Responsible party
- Sponsor
- Investigators
- David Lynch, MD PhD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03090789
- Sponsor's protocol ID
- 01-002609
- Acronym
- FA-COMS
- Status last verified
- Oct 2024
- First submitted
- 10 Mar 2017
- Last updated
- 4 Oct 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M, Bushara K, Duquette A, Gomez C, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews K, Zesiewicz T, Perlman S, Lynch DR. Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. Neurology. 2022 Oct 3;99(14):e1499-e1510. doi: 10.1212/WNL.0000000000200913.
PubMed 35817567
Study at a glance
From the registry record, last updated by the sponsor on 4 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Outcome Measures in Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT03090789
- Acronym / sponsor ID
- FA-COMS / 01-002609
- Conditions
- Friedreich Ataxia, Neuro-Degenerative Disease
- Keywords
- Friedreich Ataxia, Neuro-degenerative disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Friedreich's Ataxia Research AllianceUniversity, hospital or other
- Collaborators
- University of Rochester, Children's Hospital of Philadelphia
- Study start
- 1 Jan 2001 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 27 Mar 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.
Detailed description
Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for assessing disease progression may be useful, evaluation in clinical trials will require specific clinical outcome measures.
This is a multicenter natural history study which aims to expand the network of clinical research centers specializing in Friedreich's Ataxia and to advance clinical care, research and therapeutic approaches in FA through the development and validation of clinical outcome measures. Study sites aim to collect quantitative serial clinical data on patients with FA and expand the existing research network. In addition, the study will support various genetic modifier studies, biomarker studies, and frataxin protein level assessments in patients with FA, in carriers, and in controls.
This study will recruit up to 2000 patients with Friedreich ataxia worldwide, to be assessed annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can participate.
Study participation involves yearly assessments of a core set of clinical measures and quality of life assessment measures in addition to optional collection of a cheek swab and/or blood sample.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 25 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 4 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.
Key inclusion criteria (4 listed)
- Males or females age 4 to 80 years.
- Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
- 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).
- Parental/guardian permission (informed consent) and if appropriate, child assent.
Key exclusion criteria (1 listed)
- 1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Friedreich Ataxia Rating Scale
Time frame: once every 1 year
rating scale based on clinical neurologic examination
4 secondary outcomes
9-hole peg test
Time frame: once every 1 year
timed 25 foot walk
Time frame: once every 1 year
Vision assessment
Time frame: once every 1 year
Quality of Life Questionnaires
Time frame: once every 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Oct 2024.
- Derived from this study: PubMed 35817567Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M, Bushara K, Duquette A, Gomez C, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews K, Zesiewicz T, Perlman S, Lynch DR. Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. Neurology. 2022 Oct 3;99(14):e1499-e1510. doi: 10.1212/WNL.0000000000200913.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David Lynch, MD PhD principal investigator
Children's Hospital of Philadelphia
14 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich Ataxia and Neuro-Degenerative Disease, run by Friedreich's Ataxia Research Alliance at 14 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 4 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, Canada, Australia, India, New Zealand. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Friedreich Ataxia Rating Scale (time frame: once every 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03090789, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Oct 2024.