Friedreich AtaxiaNCT03418740

Neurology Measures in FA Children

An observational study of Friedreich Ataxia, run by Children's Hospital of Philadelphia at 3 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial summary

The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia (FA) and be able to measure changes over time in children with FA. Participants will have biannual visits to observe how the disease progresses over time and determine the rate of progression. Read more about this study

Who is it for?: Ages 2 to 18 years
Conditions the study is for: Friedreich Ataxia
How many people: 108 participants
Where: 3 sitesUnited States
Study dates: 20 Nov 2017to 2 Feb 2023
How long will I take part?: 3 Years
Phase: Observational
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 2 to 18 years
All sexes
No healthy volunteers
Child, Adult

Study population: This study will primarily take place at the Children's Hospital of Philadelphia (CHOP), with a select number of subjects only participating in the clinical testing at the University of Florida and University of California Los Angeles (UCLA). The investigators expect to recruit approximately 100 children across all three sites and study each of them over a 3 year period. Children with a genetically or clinically confirmed diagnosis of Friedreich's Ataxia (FA) will be offered participation.

Who may be able to join

Males or females age 2 to 18 years.
Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory
Parental/guardian permission (informed consent) and if appropriate, child assent.

Who cannot join

1) Inability to complete study evaluations

Trial locations and contacts

3 sites in 1 country.

United States3 sites

University of Florida
Gainesville, Florida, 32611
University of California, Los Angeles
Los Angeles, California, 90095
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104

Other trials in United States

About this study

Official title: Neurological Measures of Progression in Children With Friedrich Ataxia

Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA OOPD).

Read the detailed description

Investigators seek to identify biological and clinical tests to be used in future clinical trials. The purpose of this research study is to learn more about Friedreich's Ataxia (FA) progression in children. There will be biannual visits which will include a core set of tests and procedures. These include: a collection of medical history, detailed neurological exam, ataxia scales, and health questionnaires. At each visit, blood and cheek swab samples will be obtained to monitor frataxin levels.

A select number of Children's Hospital of Philadelphia (CHOP) participants will have the opportunity to participate in further procedures to better understand how FA affects different tissues. These include a Magnetic Resonance Imaging (MRI) scan and a Motor Evoked Potentials (MEP) procedure.

The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to capture images of the calf muscle before and after exercising on an ergonomic foot pedal.

The MEP procedure measures how strong the connection is between the brain's motor cortex and a selected body part, specifically the participant's dominant hand.

Conditions: Friedreich Ataxia
Keywords: Friedreich, Ataxia, FRDA, FA, Friedrich Ataxia (FRDA)
Medical subject headings: Friedreich Ataxia, Ataxia

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT03418740
Study group	Role	What they receive
FA Children		Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia

What is being measured

The primary outcome is the main question the study is designed to answer.

Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score
The Friedreich Ataxia Rating Scale (FARS) measures neurological function in FA. It is a composite measure reflecting neural substrates with five-subscales (sections A to E), measuring bulbar function, upper limb coordination, lower limb coordination, peripheral nerves, and upright stability. The modified FARS (mFARS) shortens the bulbar subscale to 2 items and excludes the peripheral nerve subscale.
Total scoring is a summation of subscales, with a maximum score of 93 points for mFARS and 125 for FARS. The mFARS score ranges for each subscale are: Bulbar: 0 - 5, Upper Limb: 0 - 36, Lower Limb: 0 - 16, Upright Stability: 0 - 36.
The overall change in mFARS and its sub scores across 3 years was the outcome measure analyzed at 0, 1, 2, and 3 year visits. Each subsection has a minimum score of 0, indicating minimal effect for that component. Maximum values per section vary based on the tasks performed in each subsection; a higher score indicates greater dysfunction on that component.
Measured: Baseline up to 36 Months

Secondary outcomes (6)

Change in Timed 25-Foot Walk (T25FW) Test
The timed 25-foot walk (T25FW) test examines gait speed. The participant walks the distance of 25 feet as fast and safe as possible. Participants may use assistive devices during this task. The T25FW test was analyzed at 0, 1, 2, and 3 year visits.
Measured: Baseline up to 36 Months
Change in 9-Hole Peg Test (9HPT)
This test examines finger dexterity and involves placing and removing nine pegs in a pegboard and then removing them in the quickest possible time. The 9HPT has high intra- and inter-rater reliability and is the most commonly used measure of upper limb function in FA. The 9HPT was analyzed at 0, 1, 2, and 3 year visits.
Measured: Baseline up to 36 Months
Change in Timed Up and Go (TUG) Test
The Timed Up and Go (TUG) test is a timed measure during which the participant has to stand up from a chair, walk 3 meters, turn around, walk back, and sit down. The participant is asked to perform the task as fast and as safe as possible. The TUG is a norm-referenced measure that has established reliability for quickly assessing functional ambulatory mobility and dynamic balance in adults and children. The TUG test was analyzed at 0, 1, 2, and 3 year visits.
Measured: Baseline up to 36 Months
Change in Berg Balance Scale (Full Length) (BBS) Score
The Berg Balance Scale (BBS) is a widely used assessment to determine a person's balance abilities. The BBS includes a 14-item scale with static and dynamic activities of varying difficulty. The overall change in BBS score across 3 years was analyzed at 0, 1, 2, and 3 year visits. Scoring is based on a summation of the 14 item tasks scored on a five-point scale, with a range of 0-4 for each task.
0 = lowest level of function 4 = highest level of function. Highest possible score = 56 A score of < 45 indicates a greater risk of falling.
Measured: Baseline up to 36 Months
Change in FA-Activities of Daily Living Scale (ADL) Score
The Activities of Daily Living (ADL) assesses functional status as a measurement of the participant's ability to perform activities of daily living independently. The ADL comprises 9 questions, each question scored on a scale of 0 to 4, though participants may use increments of 0.5 if they feel they fall between two items. As with the mFARS, the total ADL score is comprised of a summation of each scored question. A minimum value of 0 on the ADL scale indicates self-evaluation of minimal effect for neurological disease components. A maximum score of 36 on the ADL indicates most severe self-evaluation of symptoms included on the survey. The overall change in ADL score across 3 years was analyzed at 0, 1, 2, and 3 year visits.
Measured: Baseline up to 36 Months
Change in 1-minute Walk (1MW) and 6-minute Walk (6MW) Tests
The Timed 1-minute Walk (T1MW) and timed 6-minute Walk are quantitative mobility and leg function performance tests based on distance traveled in one minute and six minutes. The participant is directed to one end of a clearly marked course and is instructed to walk back and forth as quickly as possible for one minute. The task is then repeated for six minutes. The distance is calculated by measuring how far the participant travels along the marked course.
Measured: Baseline up to 36 Months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

20 Nov 20172 Feb 2023

First posted1 Feb 2018
Study start20 Nov 2017
Primary completion2 Feb 2023
Study completion2 Feb 2023

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Prospective
Enrolment: 108 participants (actual)
Target duration: 3 Years

IDs, dates and publications

ClinicalTrials.gov ID: NCT03418740
Sponsor's protocol ID: 17-014390
Other IDs: FD006029-01
Status last verified: Jan 2025
First submitted: 26 Jan 2018
Last updated: 16 Jan 2025
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Not yet recruitingObservational study
A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World
Friedreich's Ataxia
RecruitingObservational study
Clinical Course Of Disease In Participants With FA-CM
Friedreich Ataxia, Cardiomyopathy
Not yet recruitingPhase 2
GV101 for Friedreich's Ataxia (FA) Treatment
Friedreich's Ataxia
Not yet recruitingPhase 1
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
Friedreich Ataxia, Cardiomyopathies
RecruitingPhase 3
A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia
Friedreich Ataxia, Friedreich's Ataxia

All Friedreich Ataxia trials

Study at a glance

From the registry record, last updated by the sponsor on 16 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Neurological Measures of Progression in Children With Friedrich Ataxia
ClinicalTrials.gov ID: NCT03418740
Acronym / sponsor ID: 17-014390
Conditions: Friedreich Ataxia
Keywords: Friedreich, Ataxia, FRDA, FA, Friedrich Ataxia (FRDA)
Study type: Observational
Recruitment status: Completed
Enrolment: 108 participants (actual)
Lead sponsor: Children's Hospital of PhiladelphiaUniversity, hospital or other
Collaborators: University of Florida, University of California, Los Angeles, Food and Drug Administration (FDA), Friedreich's Ataxia Research Alliance
Study start: 20 Nov 2017 (actual)
Primary completion: 2 Feb 2023 (actual)
Study completion: 2 Feb 2023 (actual)
First posted: 1 Feb 2018 (actual)
Results: Posted 16 Jan 2025

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA OOPD).

Detailed description

The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to capture images of the calf muscle before and after exercising on an ergonomic foot pedal.

The MEP procedure measures how strong the connection is between the brain's motor cortex and a selected body part, specifically the participant's dominant hand.

Study design

Observational model: Cohort
Time perspective: Prospective
Target follow-up: 3 Years
Number of arms: 1

Arm	Type	Receives
FA Children	–	–Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia

Who may qualify

Ages: 2 to 18 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult
Study population: This study will primarily take place at the Children's Hospital of Philadelphia (CHOP), with a select number of subjects only participating in the clinical testing at the University of Florida and University of California Los Angeles (UCLA). The investigators expect to recruit approximately 100 children across all three sites and study each of them over a 3 year period. Children with a genetically or clinically confirmed diagnosis of Friedreich's Ataxia (FA) will be offered participation.

Key inclusion criteria (3 listed)

Males or females age 2 to 18 years.
Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory
Parental/guardian permission (informed consent) and if appropriate, child assent.

Key exclusion criteria (1 listed)

1) Inability to complete study evaluations

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score
Time frame: Baseline up to 36 Months
The Friedreich Ataxia Rating Scale (FARS) measures neurological function in FA. It is a composite measure reflecting neural substrates with five-subscales (sections A to E), measuring bulbar function, upper limb coordination, lower limb coordination, peripheral nerves, and upright stability. The modified FARS (mFARS) shortens the bulbar subscale to 2 items and excludes the peripheral nerve subscale. Total scoring is a summation of subscales, with a maximum score of 93 points for mFARS and 125 for FARS. The mFARS score ranges for each subscale are: Bulbar: 0 - 5, Upper Limb: 0 - 36, Lower Limb: 0 - 16, Upright Stability: 0 - 36. The overall change in mFARS and its sub scores across 3 years was the outcome measure analyzed at 0, 1, 2, and 3 year visits. Each subsection has a minimum score of 0, indicating minimal effect for that component. Maximum values per section vary based on the tasks performed in each subsection; a higher score indicates greater dysfunction on that component.

6 secondary outcomes

Change in Timed 25-Foot Walk (T25FW) Test
Time frame: Baseline up to 36 Months
Change in 9-Hole Peg Test (9HPT)
Time frame: Baseline up to 36 Months
Change in Timed Up and Go (TUG) Test
Time frame: Baseline up to 36 Months
Change in Berg Balance Scale (Full Length) (BBS) Score
Time frame: Baseline up to 36 Months
Change in FA-Activities of Daily Living Scale (ADL) Score
Time frame: Baseline up to 36 Months
Change in 1-minute Walk (1MW) and 6-minute Walk (6MW) Tests
Time frame: Baseline up to 36 Months

Results and safety

Results posted to the registry on 16 Jan 2025, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
FA Children	108	85

Primary outcome: Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score

Time frame: Baseline up to 36 Months. Mean (95% Confidence Interval). Unit: units on a scale

Measure	FA Children n = 89
mFARS 1Y	2.9 (1.6 to 4.2)
mFARS 2Y	4.9 (3.6 to 6.3)
mFARS 3Y	7.7 (6.4 to 9.0)
FARS E 1Y	2.2 (1.5 to 2.9)
FARS E 2Y	3.7 (3.0 to 4.5)
FARS E 3Y	5.5 (4.7 to 6.2)
FARS B 1Y	0.3 (-0.4 to 1.1)
FARS B 2Y	0.3 (-0.4 to 1.1)

Population analysed: Among 108 individuals enrolled,19 were excluded from the analysis population for one or more concurrent reasons. These included missing mFARS data (baseline or follow-up, n = 6), early disease stage (n = 3, mFARS baseline values 1, 7, 12.3), and inability to ambulate at baseline (n = 13).

6 secondary outcomes are reported in the full results.

Adverse events

Time frame: Adverse events were not collected as part of this study. All-Cause Mortality was assessed through study completion, up to 2 years.. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
FA Children	0 of 0	0 of 0	1 of 89

Limitations and caveats (from the sponsor): Potential training effects of the repeated outcome measures as well as placebo effects might have increased variability. Varying demographic and genetic factors such as the presence of point mutations, GAA1 repeat length, age of onset and age at baseline also contribute to variability and may impact the rates of change over time. The COVID-19 epidemic also contributed to intermittent loss of data, and supplementing with virtual visits had limited value.

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2025.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.

Related trials for Friedreich Ataxia

Not yet recruitingObservational study
A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World
Friedreich's Ataxia
RecruitingObservational study
Clinical Course Of Disease In Participants With FA-CM
Friedreich Ataxia, Cardiomyopathy
Not yet recruitingPhase 2
GV101 for Friedreich's Ataxia (FA) Treatment
Friedreich's Ataxia
Not yet recruitingPhase 1
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
Friedreich Ataxia, Cardiomyopathies
RecruitingPhase 3
A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia
Friedreich Ataxia, Friedreich's Ataxia

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

David Lynch, MD, PhD principal investigator

Children's Hospital of Philadelphia

3 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Friedreich Ataxia, run by Children's Hospital of Philadelphia at 3 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 16 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 16 Jan 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score (time frame: Baseline up to 36 Months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03418740.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jan 2025.