An observational study in Friedreich Ataxia, sponsored by Children's Hospital of Philadelphia. Completed at 3 sites in United States. Open to participants aged 2 Years to 18 Years. Per ClinicalTrials.gov, last updated 2025-01-16.
Sponsored by Children's Hospital of Philadelphia · Observational
Among 70 studies in Friedreich Ataxia with a site in United States — 17 open to participants now, 24 under way, 4 of them phase 3. Friedreich Ataxia · United States.
Among the 70 studies in Friedreich Ataxia with a site in United States, this one is the 8th largest by enrollment of the 21 observational ones that give a count, is one of 3 that started in 2017, is one of 21 observational ones, and was the 32nd registered.
110 studies on the registry are indexed under Friedreich Ataxia; 27 are open to participants now.
Browse Friedreich Ataxia studies →17 of the 70 studies in Friedreich Ataxia with a site in United States are open now. Recruiting first, the newest first:
Biogen · Sites in United States
Larimar Therapeutics, Inc. · Sites in United States
Scott Barbuto · Sites in United States
Lexeo Therapeutics · Sites in United States
Solid Biosciences Inc. · Sites in United States
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 18 Friedreich Ataxia studies recruiting now, 9 (50%) set no upper age limit and 9 (50%) stop at 75 or younger; 15 take children under 18; 3 take healthy volunteers.
This study: 2 Years to 18 Years · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
70 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 17 · Phase 2 19 · Phase 3 12
First in 2001; this study’s year is marked. 3 started in 2017.
This study's enrollment of 108 is above the median of 70 across 31 observational studies indexed under Friedreich Ataxia.
Median enrollment 33 across the 48 interventional studies, 65 across the 21 observational. Of the 43 that completed or were terminated, 16 (37%) have results posted.
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38 of 70 have an industry lead sponsor. The 10 most frequent:
Children's Hospital of Philadelphia is the lead sponsor of 489 studies on the registry; 90 are open to participants now.
Of its 28 completed or terminated interventional studies of FDA-regulated products, 22 (79%) have results posted.
Children's Hospital of Philadelphia has 6 studies filed under Friedreich Ataxia — fewer than ten, so there is no comparison to draw.
6 of the studies in Friedreich Ataxia with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06953583Phase 3BiogenA Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's Ataxia | 2027-11-16 |
| NCT06447025Larimar Therapeutics, Inc.An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia | 2027-01 |
| NCT07869654Adjuvia Therapeutics, Inc.A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults | 2027-05-27 |
| NCT07870590Graviton Bioscience CorporationGV101 for Friedreich's Ataxia (FA) Treatment | 2027-07 |
| NCT02316314Weill Medical College of Cornell UniversityCharacterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) | 2027-08 |
Among the 70 studies in Friedreich Ataxia with a site in United States, from their registry updates:
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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.
Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA OOPD).
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.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia
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.
Time frame: Baseline up to 36 Months
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Baseline up to 36 Months
| Milestone | FA Children |
|---|---|
| Started | 108 |
| Number of participants in the analysis population | 89 |
| Completed | 85 |
| Not completed | 23 |
| Withdrew: Lost to follow-up | 13 |
| Withdrew: Scheduling issues | 7 |
| Withdrew: Withdrawal by subject | 2 |
| Withdrew: Unable to continue consent | 1 |
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.
| units on a scale | FA Children |
|---|---|
| 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) |
| FARS B 3Y | 0.6 (-0.1 to 1.3) |
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.
| seconds | FA Children |
|---|---|
| T25FW 1Y | -0.2 (-0.3 to -0.1) |
| T25FW 2Y | -0.4 (-0.5 to -0.3) |
| T25FW 3Y | -0.5 (-0.6 to -0.4) |
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.
| seconds | FA Children |
|---|---|
| 9HPT 1Y | -0.1 (-0.2 to -0.1) |
| 9HPT 2Y | -0.2 (-0.3 to -0.2) |
| 9HPT 3Y | -0.3 (-0.3 to -0.2) |
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.
| seconds | FA Children |
|---|---|
| TUG*100 1Y | -1.4 (-2.3 to -0.5) |
| TUG*100 2Y | -3.6 (-4.6 to -2.6) |
| TUG*100 3Y | -4.9 (-5.9 to -3.9) |
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.
| units on a scale | FA Children |
|---|---|
| BBS 1Y | -6.5 (-9.1 to -3.9) |
| BBS 2Y | -10.4 (-13.0 to -7.7) |
| BBS 3Y | -15 (-17.6 to -12.5) |
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.
| units on a scale | FA Children |
|---|---|
| ADL 1Y | 0.1 (-0.7 to 0.9) |
| ADL 2Y | 1.9 (1.1 to 2.7) |
| ADL 3Y | 3 (2.2 to 3.9) |
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.
| meters | FA Children |
|---|---|
| 1MW 1Y | -11 (-15.7 to -6.2) |
| 1MW 2Y | -15.7 (-20.8 to -10.7) |
| 1MW 3Y | -23.1 (-28.0 to -18.1) |
| 6MW 1Y | -13.1 (-56.0 to 29.7) |
| 6MW 2Y | -65.8 (-120.3 to -11.4) |
| 6MW 3Y | -67.4 (-129.9 to -4.9) |
Collected over Adverse events were not collected as part of this study. All-Cause Mortality was assessed through study completion, up to 2 years.. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| FA Children | 1/89 (1.1%) | — | — |
Overall, among 108 individuals enrolled, 19 were excluded from the analysis population for one or more reasons.
| Age, Continuous(Years) | FACHILD |
|---|---|
| Mean | 13.3 ± 2.8 |
| Sex: Female, Male(Participants) | FACHILD |
|---|---|
| Female | 48 |
| Male | 41 |
| Race and Ethnicity Not Collected(Participants) | FACHILD |
|---|
| Region of Enrollment(participants) | FACHILD |
|---|---|
| United States | 89 |
| mFARS Total (93)(units on a scale) | FACHILD |
|---|---|
| Mean | 37.8 ± 11.7 |
| Upright Stability (FARS E, 36)(units on a scale) | FACHILD |
|---|---|
| Mean | 22.3 ± 5.3 |
| Upper Limbs (FARS B, 36)(units on a scale) | FACHILD |
|---|---|
| Mean | 9.2 ± 5.3 |
| Lower Limbs (FARS C, 16)(units on a scale) | FACHILD |
|---|---|
| Mean | 5.9 ± 2.4 |
1 further baseline measures are reported on the registry.
PDFs hosted by the registry, ClinicalTrials.gov.
Ran from Nov 2017 to primary completion in Feb 2023, 62 months.
Results were first posted in Jan 2025, 1 year 11 months after primary completion.
How these figures are worked out, and which studies are left out of them.
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