Friedreich Ataxia Natural History Study
This is an observational study called the UNIFAI Study, which aims to understand how Friedreich Ataxia (FA) progresses over time. FA is a rare, inherited condition affecting the nervous system and heart. This study will follow people with FA for up to 25 years to learn more about the disease's natural course. This information will help researchers develop new treatments. You can join if you have a genetically confirmed diagnosis of FA, are male or female, and of any age. The study will track changes in your symptoms using scales like the modified Friedreich Ataxia Rating Scale (mFARS), the Scale for the Assessment and Rating of Ataxia (SARA), and FA Activities of Daily Living (ADL) scores. The study is currently recruiting 3000 participants worldwide.
- Study design
- This is a global, observational study following 3000 participants with Friedreich Ataxia over time. It is designed to understand the natural progression of the disease.
- What's involved
- You would have yearly study visits for up to 25 years. These visits involve collecting medical records, history, neurological exams, walking tests, and quality of life assessments.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for up to 25 years, with assessments measured at baseline and annually.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
At a glance
Conditions
NCT06016946
Where you'd take part
This study runs at 34 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
All India Institute of Medical Sciences (AIIMS)
New Delhi, National Capital Territory of Delhi, Indiastudy coordinator listed
Recruiting
Auckland City Hospital
Auckland, New Zealandstudy coordinator listed
Recruiting
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, Italystudy coordinator listed
Not yet recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvaniastudy coordinator listed
Recruiting
CHUM - Hopital Notre-Dame
Montreal, Quebec, Canadastudy coordinator listed
Recruiting
Deutsches Zentrum Für Neurodegenerative Erkrankungen
Bonn, Germanystudy coordinator listed
Not yet recruiting
Emory University Hospital - Neurology
Atlanta, Georgiastudy coordinator listed
Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italystudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- David Lynch, MD · PRINCIPAL_INVESTIGATOR · Children's Hospital of Philadelphia
- Jorg B Schulz, Prof · PRINCIPAL_INVESTIGATOR · University Hospital, Aachen
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Change in modified Friedreich Ataxia Rating Scale (mFARS) ScoreBaseline, 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) ScoreBaseline, 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) ScoreBaseline, 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) ScoreBaseline, 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.