Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

Not yet recruiting

• Conditions: Friedreich Ataxia; Rare Diseases
• Interventions: Other: Geneticlly confirmed disease causing FXN mutatuion; Other: Healthy Control

• Registration Number: NCT06560346
• Lead Sponsor: Friedreich's Ataxia Research Alliance

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.

Study Timeline

• Study First Submitted: 2024-08-15
• Study First Submitted QC: 2024-08-15
• Study First Posted: 2024-08-19
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-17
• Last Update Posted: 2024-12-19
• Study Start: 2025-05-01
• Primary Completion: 2028-12-01
• Study Completion: 2028-12-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
FRDA, genetically confirmed	Geneticlly confirmed disease causing FXN mutatuion	individuals with FRDA, genetically confirmed, aged 4-21yrs
Matched healthy controls	Healthy Control	Participants in the control group (Group 2) will be aged 4-21 years at enrollment and fulfill group matching criteria to an enrolled participant with FRDA (age, sex)

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (7)

St. Jude Children's Research Hospital; 🇺🇸 Memphis, Tennessee, United States

University of Iowa, Stead Family Children's Hospital; 🇺🇸 Iowa City, Iowa, United States

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

Murdoch Childrens Research Institute; 🇦🇺 Parkville, Victoria, Australia

McGill University Health Centre - Montreal Neurological Institute; 🇨🇦 Montreal, Quebec, Canada

University Hospital Aachen, Dept. of Neurology; 🇩🇪 Aachen, Germany

Bambino Gesù Children's Hospital, Department of Neurosciences; 🇮🇹 Roma, Italy