Friedreich Ataxia, Rare Diseases
Conditions
Brief summary
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
Detailed description
A multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia to further understand the disease features and progression and inform and enable future clinical trials in children with FA. The study, Understanding the natural history early in the presentation of Friedreich ataxia: evaluating new clinical outcome assessments in children with Friedreich ataxia to facilitate clinical trial design (EARLY-FA), evaluates disease features specific to children and novel biomarkers and outcome measures which leveraging existing clinical research infrastructure and data collection from an established natural history study, UNIFAI.
Interventions
OTHERGeneticlly confirmed disease causing FXN mutatuion
No intervention in this observational Natural History Study
OTHERHealthy Control
No intervention in this observational Natural History Study
Sponsors
Friedreich's Ataxia Research Alliance
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
4 Years to 21 Years
Healthy volunteers
Yes
Inclusion criteria
for participants with FA: 1. Genetic diagnosis of Friedreich Ataxia 2. Ages 4-21 years at enrollment 3. Enrollment in the UNIFAI study and ability to have simultaneous visits for both UNIFAI and EARLY-FA 4. Informed consent must be obtained for all participants: 1. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable) 2. Persons who are not legally competent require the informed consent of their legally authorized representative Inclusion criteria for control participants: 1. Ages 4-21 years at enrollment 2. Matching criteria to an enrolled participant with FA (age, sex and educational status) 3. Informed consent must be obtained for all participants: 1. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable) 2. Persons who are not legally competent require the informed consent of their legally authorized representative
Exclusion criteria
for participants with FA: 1. Diagnosis of non-FA medical or other condition that in the opinion of the investigator would interfere with the conduct and assessments of the study or be confounding and contraindication to participation. 2. Pregnant female participants 3. Unable to provide informed consent.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score) | Baseline, 12 months, and 24 months | Height (cm) will be measured using a wall-mounted stadiometer and univariate analyses will test for Correlation between the height Z-score (after accounting for genetic potential (mid-parental height)) and disease severity (using the standard ataxia scale modified Friedreichs ataxia rating scale (mFARS)). 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. |
Countries
Australia, Canada, Germany, Italy, United States
Outcome results
None listed