Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study

NCT06016946 | Recruiting

• 1 other identifier: 1016
• Study Type: observational
• Target: 3,000
• Locations: 16 countries
• Sites: 33

Brief 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.

Conditions

Friedreich Ataxia

Keywords

Rare Disease; Neuro-degenerative disease; Ataxia; Neurodegenerative Diseases; Neurologic Manifestations; Genetic Diseases, Inborn

Outcome Measures

Primary Outcomes (4)

• 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.

  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.

  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.

  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.

  Baseline, Year 1-25

Secondary Outcomes (5)

• Change in 9-hole peg test mean time (seconds)

  Baseline, Year 1-25

• Change in Timed walk (25-foot or 8-meter) mean time (seconds)

  Baseline, Year 1-25

• Change in Speech analysis scores

  Baseline, Year 1-25

• Change in Ataxia Instrumented Measures (AIMs)clinical severity score

  Baseline, Year 1-25

• Change in Lower Contrast Letter Acuity test score

  Baseline, Year 1-25

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Friedreich's Ataxia Research Alliance: lead

Study Sites (34)

UCLA Ataxia Center

Los Angeles, California, 90095, United States

RECRUITING

University of Colorado

Denver, Colorado, 80045, United States

RECRUITING

University of Florida - Neurology

Gainesville, Florida, 32610, United States

RECRUITING

USF Ataxia Research Center

Tampa, Florida, 33612, United States

RECRUITING

Emory University Hospital - Neurology

Atlanta, Georgia, 30329, United States

RECRUITING

University of Iowa, Stead Family Children's Hospital

Iowa City, Iowa, 52242, United States

RECRUITING

Ohio State University - Neurology

Columbus, Ohio, 43221, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Murdoch Childrens Research Institute

Parkville, Victoria, 3052, Australia

RECRUITING

Medical University Innsbruck, Department of Neurology

Innsbruck, 6020, Austria

RECRUITING

Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology

Brussels, 1070, Belgium

RECRUITING

University of Campinas

Campinas, Brazil

NOT YET RECRUITING

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

RECRUITING

CHUM - Hopital Notre-Dame

Montreal, Quebec, h2x0a9, Canada

RECRUITING

McGill University Health Centre - Montreal Neurological Institute

Montreal, Quebec, H9R 2Y2, Canada

RECRUITING

Motol University Hospital, Centre for Hereditary Ataxias

Prague, 150 06, Czechia

RECRUITING

Paris Brain Institute

Paris, 75013, France

RECRUITING

Hôpital de Hautepierre, Service de Neurologie

Strasbourg, 67098, France

NOT YET RECRUITING

University Hospital Aachen, Dept. of Neurology

Aachen, 52074, Germany

RECRUITING

Deutsches Zentrum Für Neurodegenerative Erkrankungen

Bonn, 53105, Germany

NOT YET RECRUITING

University of Munich, Dept. of Neurology, Friedrich-Baur-Institut

Munich, 80336, Germany

RECRUITING

University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research

Tübingen, 72076, Germany

RECRUITING

National and Kapodistrian University of Athens, Neurogenetics Unit

Athens, 11528, Greece

RECRUITING

All India Institute of Medical Sciences (AIIMS)

New Delhi, National Capital Territory of Delhi, 110020, India

RECRUITING

Tallaght University Hospital, Department of Neurology

Dublin, D24 TP66, Ireland

RECRUITING

Referente Clinico-Scientifico di Polo IRCCS "E. Medea"

Conegliano, 21015, Italy

RECRUITING

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133, Italy

RECRUITING

Bambino Gesù Children's Hospital, Department of Neurosciences

Roma, 00146, Italy

NOT YET RECRUITING

Stichting Radboud Universitair Medisch Centrum

Nijmegen, 6525, Netherlands

RECRUITING

Auckland City Hospital

Auckland, 1023, New Zealand

RECRUITING

Hospital Sant Joan de Déu, Servicio de Neurología

Barcelona, 08950, Spain

NOT YET RECRUITING

Hospital Universitario La Paz, Servicio de Neurologia

Madrid, 28046, Spain

NOT YET RECRUITING

University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery

London, WC1N 3 BG, United Kingdom

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood may be collected as a one-time procedure.

MeSH Terms

Conditions

Friedreich Ataxia; Rare Diseases; Ataxia; Neurodegenerative Diseases; Neurologic Manifestations; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Dyskinesias; Signs and Symptoms

Study Officials

• David Lynch, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

• Jorg B Schulz, Prof

  University Hospital, Aachen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Cait Monette

CONTACT

16513291892; cait.monette@cureFA.org

Jennifer Farmer

CONTACT

14848796160; jen.farmer@cureFA.org

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 18, 2023
• First Posted: August 30, 2023
• Study Start: June 28, 2023
• Primary Completion (Estimated): January 28, 2048
• Study Completion (Estimated): January 28, 2048
• Last Updated: June 17, 2025

Record last verified: 2025-06

Locations

BR (1); GR (1); GB (1); IT (3); AU (1); FR (2); US (9); ES (2); NZ (1); IN (1); BE (1); CZ (1); CA (3); IE (1); NL (1); DE (4)