Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
NCT ID: NCT06016946
Last Updated: 2025-06-17
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3000 participants
OBSERVATIONAL
2023-06-28
2048-01-28
Brief Summary
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Detailed Description
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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
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Study Design
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CASE_ONLY
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
2. Individuals with Friedreich ataxia (FA): Participants that meet genetically confirmed diagnosis of Friedreich ataxia
3. Written informed consent provided
1. Informed consent must be obtained for all participants
2. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
3. Persons who are not legally competent require the informed consent of their legally authorized representative
Exclusion Criteria
5. Acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
6. For any reason in the opinion of the investigator, participant would be unlikely or unable to comply with study protocol requirements.
ALL
Yes
Sponsors
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Friedreich's Ataxia Research Alliance
OTHER
Responsible Party
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Principal Investigators
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David Lynch, MD
Role: PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia
Jorg B Schulz, Prof
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Aachen
Locations
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UCLA Ataxia Center
Los Angeles, California, United States
University of Colorado
Denver, Colorado, United States
University of Florida - Neurology
Gainesville, Florida, United States
USF Ataxia Research Center
Tampa, Florida, United States
Emory University Hospital - Neurology
Atlanta, Georgia, United States
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, United States
Ohio State University - Neurology
Columbus, Ohio, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, United States
Murdoch Childrens Research Institute
Parkville, Victoria, Australia
Medical University Innsbruck, Department of Neurology
Innsbruck, , Austria
Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
Brussels, , Belgium
University of Campinas
Campinas, , Brazil
The Hospital for Sick Children
Toronto, Ontario, Canada
CHUM - Hopital Notre-Dame
Montreal, Quebec, Canada
McGill University Health Centre - Montreal Neurological Institute
Montreal, Quebec, Canada
Motol University Hospital, Centre for Hereditary Ataxias
Prague, , Czechia
Paris Brain Institute
Paris, , France
Hôpital de Hautepierre, Service de Neurologie
Strasbourg, , France
University Hospital Aachen, Dept. of Neurology
Aachen, , Germany
Deutsches Zentrum Für Neurodegenerative Erkrankungen
Bonn, , Germany
University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
Munich, , Germany
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
Tübingen, , Germany
National and Kapodistrian University of Athens, Neurogenetics Unit
Athens, , Greece
All India Institute of Medical Sciences (AIIMS)
New Delhi, National Capital Territory of Delhi, India
Tallaght University Hospital, Department of Neurology
Dublin, , Ireland
Referente Clinico-Scientifico di Polo IRCCS "E. Medea"
Conegliano, , Italy
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, , Italy
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, , Italy
Stichting Radboud Universitair Medisch Centrum
Nijmegen, , Netherlands
Auckland City Hospital
Auckland, , New Zealand
Hospital Sant Joan de Déu, Servicio de Neurología
Barcelona, , Spain
Hospital Universitario La Paz, Servicio de Neurologia
Madrid, , Spain
University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
London, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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general clinic line
Role: backup
UNIFAI Study
Role: primary
general clinic line, 1-319-356-2436
Role: backup
general clinic line
Role: backup
Role: backup
Other Identifiers
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1016
Identifier Type: -
Identifier Source: org_study_id
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