Friedreich AtaxiaUNIFAINCT06016946
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
An observational study of Friedreich Ataxia, run by Friedreich's Ataxia Research Alliance at 34 sites in 17 countries.
Trial summary
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Friedreich Ataxia
- How many people
- 3,000 participants
- Where
- 34 sitesin 17 countries
- Study dates
- 28 Jun 2023to 28 Jan 2048
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study will include current participants from the existing FA-COMS and EFACTS natural history studies as well as enroll new individuals with Friedreich ataxia (FA) and healthy controls.
Who may be able to join
- Both males and females of any age
- Individuals with Friedreich ataxia (FA): Participants that meet genetically confirmed diagnosis of Friedreich ataxia
- Written informed consent provided
- Informed consent must be obtained for all participants
- For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
- Persons who are not legally competent require the informed consent of their legally authorized representative
Who cannot join
- Unable or unwilling to provide informed consent
- Acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
- For any reason in the opinion of the investigator, participant would be unlikely or unable to comply with study protocol requirements.
Trial locations and contacts
34 sites in 17 countries. Contact the study team or a site near you to ask about taking part.
34 sites in 17 countries
United States9 sites, 9 recruiting
- Recruiting
Emory University Hospital - Neurology
Atlanta, Georgia, 30329
UNIFAI Study, 404-727-1509
George Wilmot, MD
- Recruiting
Ohio State University - Neurology
Columbus, Ohio, 43221
Marco Tellez, 614-688-7837, marco.tellez@osumc.edu
Alison .Arter, 1-614-685-8661, Alison.Arter@osumc.edu
- Recruiting
University of Colorado
Denver, Colorado, 80045
Dillan Patel, 303-724-2642, DILLAN.PATEL@CUANSCHUTZ.EDU
Trevor Hawkins, MD
- Recruiting
University of Florida - Neurology
Gainesville, Florida, 32610
Mackenzi Coker, 1-352-294-8754, mcoker@peds.ufl.edu
general clinic line, 1-352-294-5757
- Recruiting
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, 52242
Corey McDaniel, 1-319-335-7498, corey-mcdaniel@uiowa.edu
general clinic line, 1-319-356-2436
- Recruiting
UCLA Ataxia Center
Los Angeles, California, 90095
Westley Ulit, 1-310-206-8153, WUlit@mednet.ucla.edu
Susan Perlman, MD
- Recruiting
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Jean Laboe, 1-901-595-1693, jean.laboe@stjude.org
Richard Finkel, MD
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
FA Program, 267-426-7538, FAPROGRAM@chop.edu
David Lynch, MD PhD
- Recruiting
USF Ataxia Research Center
Tampa, Florida, 33612
FA Study, 1-813-974-5909, lcampbel@usf.edu
Theresa Zesiewicz, MD
Germany4 sites, 4 recruiting
- Recruiting
University Hospital Aachen, Dept. of Neurology
Aachen, 52074
Ankica Grgic, +49 (0) 241-80-88253, AtaxieStudien@ukaachen.de
Jörg B. Schulz, MD
- Not yet recruiting
Deutsches Zentrum Für Neurodegenerative Erkrankungen
Bonn, 53105
Marcus Grobe-Einsler, +49 228 287 31283, marcus.grobe-einsler@dzne.de
Thomas Klockgether, MD
- Recruiting
University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
Munich, 80336
Natalie Villalobos, +49 89 4400 57400, Natalie.Villalobos@med.uni-muenchen.de
general research line, +49 89 4400 57421, FBI.Mito@med.uni-muenchen.de
- Recruiting
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
Tübingen, 72076
Ludger Schöls, MD, ludger.schoels@med.uni-tuebingen.de
Ludger Schöls, MD
Canada3 sites, 3 recruiting
- Recruiting
CHUM - Hopital Notre-Dame
Montreal, Quebec, h2x0a9
Martine Comeau, 514-890-8000 ext. 30153, martine.comeau.chum@ssss.gouv.qc.ca
Antoine Duquette, MD
- Recruiting
McGill University Health Centre - Montreal Neurological Institute
Montreal, Quebec, H9R 2Y2
Christian Rampal, 1-416-659-0750, christian.rampal@mcgill.ca
general clinic line, 1-514-398-5500
- Recruiting
The Hospital for Sick Children
Toronto, Ontario, M5G 1X8
Adrien D'Alonzo, adrien.dalonzo@sickkids.ca
Grace Yoon, MD
Italy3 sites, 3 recruiting
- Recruiting
Referente Clinico-Scientifico di Polo IRCCS "E. Medea"
Conegliano, 21015
Andrea Martinuzzi, +39(438) 414296, andrea.martinuzzi@lanostrafamiglia.it
Andrea Martinuzzi, MD
- Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, 20133
Anna Castaldo, MD, +39 02 23942519, anna.castaldo@istituto-besta.it
Caterina Mariotti, MD
- Not yet recruiting
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, 00146
Enrico Bertini, MD, +39 (0) 66859 2104, enricosilvio.bertini@opbg.net
Enrico Bertini, MD
France2 sites, 2 recruiting
- Recruiting
Paris Brain Institute
Paris, 75013
Elodie Petit, + 33 1 57 27 45, elodie.petit@icm-institute.org
Alexandra Durr, MD
- Not yet recruiting
Hôpital de Hautepierre, Service de Neurologie
Strasbourg, 67098
Mathieu Anheim, +33 3 88 12 87 11, mathieu.anheim@chru-strasbourg.fr
Mathieu Anheim, MD
Spain2 sites, 2 recruiting
- Not yet recruiting
Hospital Sant Joan de Déu, Servicio de Neurología
Barcelona, 08950
Alejandra Darling, +34-936009783, alejandra.darling@sjd.es
Francesc Palau Martinez, MD
- Not yet recruiting
Hospital Universitario La Paz, Servicio de Neurologia
Madrid, 28046
Francisco J. Rodriguez de Rivera Garrido, MD, +34917277444, frriveragarrido@salud.madrid.org
Francisco J. Rodriguez de Rivera Garrido, MD
Australia1 site, 1 recruiting
- Recruiting
Murdoch Childrens Research Institute
Parkville, Victoria, 3052
Geneieve Tai, 61 8341 6374, geneieve.tai@mcri.edu.au
Louise Corben, 61 3 8341 6228, louise.corben@vcgs.org.au
Austria1 site, 1 recruiting
- Recruiting
Medical University Innsbruck, Department of Neurology
Innsbruck, 6020
Sylvia Boesch, MD, MD, +43 512 504 81815, sylvia.boesch@i-med.ac.at
Sylvia Boesch, MD
Belgium1 site, 1 recruiting
- Recruiting
Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
Brussels, 1070
Fabienne Deveylder, Fabienne.Deveylder@erasme.ulb.ac.be
Christiane Kitoko, Christiane.Kitoko@erasme.ulb.ac.be
Brazil1 site, 1 recruiting
- Not yet recruiting
University of Campinas
Campinas
Cynthia Silveira, +55 19 3521-8036, silveiracynthia89@gmail.com
Marcondes França, MD, PhD
Czechia1 site, 1 recruiting
- Recruiting
Motol University Hospital, Centre for Hereditary Ataxias
Prague, 150 06
Lucie Šťovíčková, +420 22443-3302,-3334 ext (Chi, ataxie@fnmotol.cz
+420 22443-6860 ext (Adults), lucie.stovickova@fnmotol.cz
Greece1 site, 1 recruiting
- Recruiting
National and Kapodistrian University of Athens, Neurogenetics Unit
Athens, 11528
Georgios Koutsis, +302107289118, gkoutsis@med.uoa.gr
Georgios Koutsis
India1 site, 1 recruiting
- Recruiting
All India Institute of Medical Sciences (AIIMS)
New Delhi, National Capital Territory of Delhi, 110020
AHMAD ISTAQ, +91-11-26546688, ishtox@gmail.com
SHWETA SAHANI, +91-11-26588500, sahni.shweta29@gmail.com
Ireland1 site, 1 recruiting
- Recruiting
Tallaght University Hospital, Department of Neurology
Dublin, D24 TP66
Mary Kearney, MD, +353 1 4144061, Mary.Kearney02@tuh.ie
Sinead Murphy, MD
Netherlands1 site, 1 recruiting
- Recruiting
Stichting Radboud Universitair Medisch Centrum
Nijmegen, 6525
Judith van Gaalen, Judith.vanGaalen@radboudumc.nl
Bart van De Warrenburg, MD
New Zealand1 site, 1 recruiting
- Recruiting
Auckland City Hospital
Auckland, 1023
Juno Barnett Collins, +64 21 028 43954, juno.barnett.collins@auckland.ac.nz
Richard Roxburgh, BSC MB PhD
United Kingdom1 site, 1 recruiting
- Not yet recruiting
University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
London, WC1N 3 BG
Katarina Manso, katarina.manso@nhs.net
Paola Giunti, MD
About this study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.
Read the detailed description
The UNIFAI Study: Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study is a global research study designed to provide a deep and evolving understanding of the natural history of this rare and debilitating genetic disorder as well as inform clinical trial design and implementation.
Friedreich's Ataxia is a rare, inherited, multi-system condition characterized by progressive neurological and cardiac symptoms. It is caused by mutations in the FXN (frataxin) gene.
The UNIFAI study is a multicenter, prospective, longitudinal, observational study, which means that all data about the natural disease course will be captured at study visits conducted annually according to a single protocol for all sites. This study will recruit participants with FA worldwide, to be assessed annually for up to 25 years. Study participation involves yearly study visits with data collected from medical records and history along with clinical outcome assessments including, neurological exams, timed walking tests, upper limb function measures, and patient-reported quality of life assessments, with the option for sites to collect additional ancillary measures related to speech, vision, fatigue, balance and cognition.
This global study is a harmonization of two well-established, long-standing natural history studies in FA that have provided a framework for further investigation of clinical measures that can quantitatively assess FA: FACOMS (US, Canada, Australia, New Zealand, and India) and EFACTS (European countries). These studies have been conducted in parallel with many similarities in study conduct. Uniting these two existing studies and groups of researchers gives greater power to data previously collected as well as future data. It also continues efforts to expand the network of clinical research centers specializing in FA called the FA-Global Clinical Consortium.
Due to advances in understanding the genetic and cellular dysfunction of FA that lead to symptoms observed in affected individuals, there has been significant growth in the discovery and development of therapeutic approaches, many currently being evaluated in clinical trials and a first approved treatment in the United States in 2023. The UNIFAI study aims to build upon this momentum by focusing on several key objectives.
UNIFAI will assess the natural history of FA by collecting data from diagnosed individuals of all ages and stages of disease progression. The data collected includes demographics, medical history, medications, neurological and functional assessments, cardiac examinations, laboratory studies, and health questionnaires. The study will assess and evaluate clinical outcomes in individuals with FA, such as disease progression, symptom severity, and overall quality of life, by various factors that might influence such outcomes such as genetic mutation, demographics (age, geography), co-existing conditions, medications, or treatments. By tracking outcomes over time, researchers aim to discern patterns, trends, and potential variations in subgroups or in the effectiveness of therapies or interventions across a diverse group of participants.
The UNIFAI study aims to play a pivotal role in identifying clinical milestones and changes in natural history over time as new treatments emerge. The study will monitor how these interventions alter the trajectory of the disease, potentially leading to the identification of crucial tipping points, disease landmarks, or stages where interventions can be most impactful. This study has the potential to significantly improve our understanding of FA and lead to more effective treatments and improved outcomes for those living with FA.
The study aims to inform clinical trial design and the development and validation of novel clinical outcome assessments and biomarkers that can be used in clinical trials. The UNIFAI study aims to capture data from a wide and diverse cohort of individuals with FA so that this dataset can be used to inform the selection of inclusion and exclusion criteria and power calculations for trial designs with specific clinical outcome measures.
- Conditions
- Friedreich Ataxia
- Keywords
- Rare Disease, Neuro-degenerative disease, Ataxia, Neurodegenerative Diseases, Neurologic Manifestations, Genetic Diseases, Inborn
- Medical subject headings
- Friedreich Ataxia, Rare Diseases, Ataxia, Neurodegenerative Diseases, Neurologic Manifestations, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in modified Friedreich Ataxia Rating Scale (mFARS) Score
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease-specific scale that measures progression of neurological effects of FA. The mFARS is a validated and reliable scale; comprised of the neurologic component of the FARS and evaluates bulbar, upper limb, lower limb, and upright stability/gait function. For each item, responses categorize the corresponding neurological finding, and the findings are assigned a score ranging from 0 to 3, 4, or 5 with 0 being normal and higher numbers indicative of greater impairment. The score ranges from 0 to 93. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Scale for the Assessment and Rating of Ataxia (SARA) Score
The Scale for the Assessment and Rating of Ataxia (SARA) is a semi-quantitative assessment of ataxia, measuring ataxia of upper limb, lower limb, gait, balance and speech. It has eight items: gait, stance, sitting, speech disturbance, finger chase, nose-finger test, fast alternating hand movement, and heel-shin slide. The total score ranges from 0 (no ataxia) to 40 (severe ataxia). The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in FA Activities of Daily Living (ADL) Score
The FARS-ADL is a subsection of the FARS questionnaire that assesses activities of daily living, including speech, personal hygiene, feeding, and mobility. Participants rank each category using a scale of 0 (normal) to 4 (severe disability/ inability to carry out activity independently), with lower scores indicative of "normal" function/activity. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Upright Stability (US) Score
The Upright Stability (US) assessment is part of the neurological examination within the Modified Friedreich Ataxia Rating Scale (mFARS). This component comprises nine items: sitting position, stance with feet apart, stance with feet apart and eyes closed, stance with feet together, stance with feet together and eyes closed, tandem stance, stance with dominant foot, tandem walk, and gait. The score ranges from 0 to 9, with a higher score reflecting poorer upright stability (i.e., greater neurological severity). The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Secondary outcomes (5)
Change in 9-hole peg test mean time (seconds)
The 9 Hole Peg Test (9HPT) examines finger dexterity and involves placing and removing nine pegs in a pegboard in the quickest possible time. Two consecutive trials of the dominant hand, followed immediately by two consecutive trials of the non-dominant hand, are undertaken. The average time in seconds taken to complete the task, for each of the dominant and non-dominant hand, is calculated. The 9HPT has high intra- and inter-rater reliability and is the most commonly used measure of upper limb function in FA. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Timed walk (25-foot or 8-meter) mean time (seconds)
The timed 25-foot/8-meter walk examines upright stability, balance and mobility and involves walking a predetermined distance. Two consecutive trials are undertaken. The average time in seconds taken to complete the task, is calculated. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Speech analysis scores
A battery of speech evaluations will be administered and recorded on a laptop for analysis, using Redenlab software. This will include: reading of a phonetically-balanced passage, sustained vowel sound, listing days of the week, repeating syllables, and a monologue task. This will form a measure of dysarthria. Redenlab is a US-Australian speech-testing company, https://redenlab.com. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Ataxia Instrumented Measures (AIMs)clinical severity score
The Ataxia Instrumented Measures (AIMs) system consists of three components: 1) the data logger which is either a spoon, cup or pendant each containing sensors, Wi-Fi and processor; 2) algorithms that distinguishes between movements made by control and users with ataxia and grades the severity of ataxia when detected; and 3) ataxia scores presented in a manner that has utility for clinicians (the AIM "score"). This score is continuous and features an ataxia severity threshold which has been established through the process of machine learning and is based on the separation between individuals with ataxia and control participants. Any value below the severity threshold of a specific device is expected for controls/very mild ataxia, and any value beyond is expected for individuals with moderate/severe ataxia. The score will be compared to the previous year annually for up to 25 years.
Measured: Baseline, Year 1-25
Change in Lower Contrast Letter Acuity test score
Contrast letter acuity for vision will be assessed using back-lit Low-Contrast Sloan Letter Charts (LCSLCs). Participants will sit at an eye distance of 2 metres from the chart. Binocular vision will be assessed using participants' normal corrective lenses where relevant. Participants are required to read each letter on the chart. Three charts will be presented, with three different visual contrast levels: 100% (equivalent to high-contrast visual acuity), 2.5%, and 1.25%. The maximum total score across the three charts (number of letters read correctly) is 240. Scores for each individual chart will also be recorded.
Measured: Baseline, Year 1-25
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Aug 2023
- Study start28 Jun 2023
- Primary completion28 Jan 2048 (estimated)
- Study completion28 Jan 2048 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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 only
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
- Target duration
- 25 Years
Sponsor and investigators
- Lead sponsor
- Friedreich's Ataxia Research Alliance
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- David Lynch, MD, Principal investigator, Children's Hospital of PhiladelphiaJorg B Schulz, Prof, Principal investigator, University Hospital, Aachen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06016946
- Sponsor's protocol ID
- 1016
- Acronym
- UNIFAI
- Status last verified
- Aug 2026
- First submitted
- 18 Aug 2023
- Last updated
- 1 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
- ClinicalTrials.gov ID
- NCT06016946
- Acronym / sponsor ID
- UNIFAI / 1016
- Conditions
- Friedreich Ataxia
- Keywords
- Rare Disease, Neuro-degenerative disease, Ataxia, Neurodegenerative Diseases, Neurologic Manifestations, Genetic Diseases, Inborn
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Friedreich's Ataxia Research AllianceUniversity, hospital or other
- Study start
- 28 Jun 2023 (actual)
- Primary completion
- 28 Jan 2048 (estimated)
- Study completion
- 28 Jan 2048 (estimated)
- First posted
- 30 Aug 2023 (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 project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.
Detailed description
The UNIFAI Study: Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study is a global research study designed to provide a deep and evolving understanding of the natural history of this rare and debilitating genetic disorder as well as inform clinical trial design and implementation.
Friedreich's Ataxia is a rare, inherited, multi-system condition characterized by progressive neurological and cardiac symptoms. It is caused by mutations in the FXN (frataxin) gene.
The UNIFAI study is a multicenter, prospective, longitudinal, observational study, which means that all data about the natural disease course will be captured at study visits conducted annually according to a single protocol for all sites. This study will recruit participants with FA worldwide, to be assessed annually for up to 25 years. Study participation involves yearly study visits with data collected from medical records and history along with clinical outcome assessments including, neurological exams, timed walking tests, upper limb function measures, and patient-reported quality of life assessments, with the option for sites to collect additional ancillary measures related to speech, vision, fatigue, balance and cognition.
This global study is a harmonization of two well-established, long-standing natural history studies in FA that have provided a framework for further investigation of clinical measures that can quantitatively assess FA: FACOMS (US, Canada, Australia, New Zealand, and India) and EFACTS (European countries). These studies have been conducted in parallel with many similarities in study conduct. Uniting these two existing studies and groups of researchers gives greater power to data previously collected as well as future data. It also continues efforts to expand the network of clinical research centers specializing in FA called the FA-Global Clinical Consortium.
Due to advances in understanding the genetic and cellular dysfunction of FA that lead to symptoms observed in affected individuals, there has been significant growth in the discovery and development of therapeutic approaches, many currently being evaluated in clinical trials and a first approved treatment in the United States in 2023. The UNIFAI study aims to build upon this momentum by focusing on several key objectives.
UNIFAI will assess the natural history of FA by collecting data from diagnosed individuals of all ages and stages of disease progression. The data collected includes demographics, medical history, medications, neurological and functional assessments, cardiac examinations, laboratory studies, and health questionnaires. The study will assess and evaluate clinical outcomes in individuals with FA, such as disease progression, symptom severity, and overall quality of life, by various factors that might influence such outcomes such as genetic mutation, demographics (age, geography), co-existing conditions, medications, or treatments. By tracking outcomes over time, researchers aim to discern patterns, trends, and potential variations in subgroups or in the effectiveness of therapies or interventions across a diverse group of participants.
The UNIFAI study aims to play a pivotal role in identifying clinical milestones and changes in natural history over time as new treatments emerge. The study will monitor how these interventions alter the trajectory of the disease, potentially leading to the identification of crucial tipping points, disease landmarks, or stages where interventions can be most impactful. This study has the potential to significantly improve our understanding of FA and lead to more effective treatments and improved outcomes for those living with FA.
The study aims to inform clinical trial design and the development and validation of novel clinical outcome assessments and biomarkers that can be used in clinical trials. The UNIFAI study aims to capture data from a wide and diverse cohort of individuals with FA so that this dataset can be used to inform the selection of inclusion and exclusion criteria and power calculations for trial designs with specific clinical outcome measures.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 25 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will include current participants from the existing FA-COMS and EFACTS natural history studies as well as enroll new individuals with Friedreich ataxia (FA) and healthy controls.
Key inclusion criteria (6 listed)
- Both males and females of any age
- Individuals with Friedreich ataxia (FA): Participants that meet genetically confirmed diagnosis of Friedreich ataxia
- Written informed consent provided
Key exclusion criteria (3 listed)
- Unable or unwilling to provide informed consent
- Acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
- For any reason in the opinion of the investigator, participant would be unlikely or unable to comply with study protocol requirements.
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
Change in modified Friedreich Ataxia Rating Scale (mFARS) Score
Time frame: Baseline, Year 1-25
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease-specific scale that measures progression of neurological effects of FA. The mFARS is a validated and reliable scale; comprised of the neurologic component of the FARS and evaluates bulbar, upper limb, lower limb, and upright stability/gait function. For each item, responses categorize the corresponding neurological finding, and the findings are assigned a score ranging from 0 to 3, 4, or 5 with 0 being normal and higher numbers indicative of greater impairment. The score ranges from 0 to 93. The score will be compared to the previous year annually for up to 25 years.
Change in Scale for the Assessment and Rating of Ataxia (SARA) Score
Time frame: Baseline, Year 1-25
The Scale for the Assessment and Rating of Ataxia (SARA) is a semi-quantitative assessment of ataxia, measuring ataxia of upper limb, lower limb, gait, balance and speech. It has eight items: gait, stance, sitting, speech disturbance, finger chase, nose-finger test, fast alternating hand movement, and heel-shin slide. The total score ranges from 0 (no ataxia) to 40 (severe ataxia). The score will be compared to the previous year annually for up to 25 years.
Change in FA Activities of Daily Living (ADL) Score
Time frame: Baseline, Year 1-25
The FARS-ADL is a subsection of the FARS questionnaire that assesses activities of daily living, including speech, personal hygiene, feeding, and mobility. Participants rank each category using a scale of 0 (normal) to 4 (severe disability/ inability to carry out activity independently), with lower scores indicative of "normal" function/activity. The score will be compared to the previous year annually for up to 25 years.
Change in Upright Stability (US) Score
Time frame: Baseline, Year 1-25
The Upright Stability (US) assessment is part of the neurological examination within the Modified Friedreich Ataxia Rating Scale (mFARS). This component comprises nine items: sitting position, stance with feet apart, stance with feet apart and eyes closed, stance with feet together, stance with feet together and eyes closed, tandem stance, stance with dominant foot, tandem walk, and gait. The score ranges from 0 to 9, with a higher score reflecting poorer upright stability (i.e., greater neurological severity). The score will be compared to the previous year annually for up to 25 years.
5 secondary outcomes
Change in 9-hole peg test mean time (seconds)
Time frame: Baseline, Year 1-25
Change in Timed walk (25-foot or 8-meter) mean time (seconds)
Time frame: Baseline, Year 1-25
Change in Speech analysis scores
Time frame: Baseline, Year 1-25
Change in Ataxia Instrumented Measures (AIMs)clinical severity score
Time frame: Baseline, Year 1-25
Change in Lower Contrast Letter Acuity test score
Time frame: Baseline, Year 1-25
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 1 Sep 2026.
- Individual participant dataSharing planned: Undecided
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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.
David Lynch, MD principal investigator
Children's Hospital of Philadelphia
Jorg B Schulz, Prof principal investigator
University Hospital, Aachen
34 sites in 17 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich Ataxia, run by Friedreich's Ataxia Research Alliance at 34 sites in 17 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 6 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 1 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 34 sites in United States, Germany, Canada, Italy, France and 12 more countries. 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?
Contact Mackenzi Coker (+14848796160, fagcc-clinops@curefa.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in modified Friedreich Ataxia Rating Scale (mFARS) Score (time frame: Baseline, Year 1-25). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 1 Sep 2026.