Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 3,000
- 试验地点
- 67
- 主要终点
- Change in FA Activities of Daily Living (ADL) Score
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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.
结局指标
主要结局
Change in FA Activities of Daily Living (ADL) Score
时间窗: 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 Scale for the Assessment and Rating of Ataxia (SARA) Score
时间窗: 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 Upright Stability (US) Score
时间窗: 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.
Change in modified Friedreich Ataxia Rating Scale (mFARS) Score
时间窗: 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.
次要结局
- Change in Timed walk (25-foot or 8-meter) mean time (seconds)(Baseline, Year 1-25)
- Change in 9-hole peg test 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)