Clinical trial NCT06560346: Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
Official title: Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (EARLY-FA); Evaluating New Clinical Outcome Assessments in Children With Friedreich Ataxia to Facilitate Clinical Trial Design.
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Friedreich Ataxia
Rare Diseases
Lead sponsor: Friedreich's Ataxia Research Alliance
Sponsor class: OTHER
First posted: 2024-08-19
Enrollment: 0
Sex: ALL
Minimum age (years): 4
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will enroll 200 individuals with FA who are 4-21 years of age and 100 healthy matched (age and sex) controls.

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.

Eligibility criteria: 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.

Exclusion criteria for control participants:

1. Family risk for FA with unknown status
2. Diagnosis of a medical condition that in the opinion of the investigator could be confounding and contraindication to participation
3. Unable to provide informed consent

Primary outcomes:
measure: Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score)
timeFrame: Baseline, 12 months, and 24 months
Secondary outcomes:
Other outcomes:
Locations:
city: Iowa City
country: United States
facility: University of Iowa, Stead Family Children's Hospital
state: Iowa
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Memphis
country: United States
facility: St. Jude Children&#39;s Research Hospital
state: Tennessee
city: Parkville
country: Australia
facility: Murdoch Childrens Research Institute
state: Victoria
city: Montreal
country: Canada
facility: McGill University Health Centre - Montreal Neurological Institute
state: Quebec
city: Aachen
country: Germany
facility: University Hospital Aachen, Dept. of Neurology
city: Roma
country: Italy
facility: Bambino Gesù Children's Hospital, Department of Neurosciences
Study officials:
affiliation: Friedreich's Ataxia Research Alliance
name: Jennifer Farmer
role: STUDY_DIRECTOR
References: