Evidence map›Paper›PMID 40119735›Full record

Observational studyAnnals of neurology2025

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross-Sectional Analysis of the TRACK-FA Study.

Nellie Georgiou-Karistianis, Louise A Corben, Eric F Lock, Helena Bujalka, Isaac Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Jennifer Farmer and 24 more

Registry-linked trialAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Annals of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04349514 (A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04349514 active not recruitingnot on this map

A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)

TypeobservationalSponsorMonash UniversityRan2021 to 2025Enrolled300ConditionsFriedreich AtaxiaArmsNatural history
3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors.

Nellie Georgiou-KaristianisSchool of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.ORCID 0000-0003-0718-6760
Louise A CorbenSchool of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.
Eric F LockDivision of Biostatistics and Health Data Science, School of Public Health, University of Minnesota, Minneapolis, MN.
Helena BujalkaSchool of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.
Isaac AdanyeguhCenter for Magnetic Resonance Research and Department of Radiology, University of Minnesota, Minneapolis, MN.
Manuela CortiPowell Gene Therapy Centre, University of Florida, Gainesville, FL.
Dinesh K DeelchandCenter for Magnetic Resonance Research and Department of Radiology, University of Minnesota, Minneapolis, MN.
Martin B DelatyckiSchool of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.
Imis DoganDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
Jennifer FarmerFriedreich's Ataxia Research Alliance (FARA), Downingtown, PA.
Marcondes C FrançaDepartment of Neurology, University of Campinas, Campinas, Brazil.
Anthony S GabayIXICO plc, London, UK.
William GaetzDepartment of Radiology and Program in Advanced Imaging Research, Children's Hospital of Philadelphia, Philadelphia, PA.
Ian H HardingQIMR Berghofer Medical Research Institute, Brisbane, Australia.
James JoersCenter for Magnetic Resonance Research and Department of Radiology, University of Minnesota, Minneapolis, MN.
Michelle A LaxIXICO plc, London, UK.
Jiakun LiDivision of Biostatistics and Health Data Science, School of Public Health, University of Minnesota, Minneapolis, MN.
David R LynchDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0001-7168-214X
Thomas H MareciDepartment of Biochemistry and Molecular Biology, University of Florida, Gainesville, FL.
Alberto R M MartinezDepartment of Neurology, University of Campinas, Campinas, Brazil.
Massimo PandolfoDepartment of Neurology and Neurosurgery, McGill University, Montreal, Canada.
Marina PapoutsiIXICO plc, London, UK.
Richard G ParkerIXICO plc, London, UK.
Kathrin ReetzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.ORCID 0000-0002-9730-9228
Thiago J R RezendeDepartment of Neurology, University of Campinas, Campinas, Brazil.ORCID 0000-0001-8453-0313
Timothy P RobertsDepartment of Radiology and Program in Advanced Imaging Research, Children's Hospital of Philadelphia, Philadelphia, PA.
Sandro RomanzettiDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
David A RudkoDepartment of Neurology and Neurosurgery, McGill University, Montreal, Canada.
Susmita SahaSchool of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.
Jörg B SchulzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.ORCID 0000-0002-8903-0593
Sub H SubramonyDepartment of Neurology and the Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL.ORCID 0000-0002-8052-9240
Veena G SupramaniamIXICO plc, London, UK.
Christophe LengletCenter for Magnetic Resonance Research and Department of Radiology, University of Minnesota, Minneapolis, MN.
Pierre-Gilles HenryCenter for Magnetic Resonance Research and Department of Radiology, University of Minnesota, Minneapolis, MN.

Funding

The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2M
Friedreich's Ataxia Research AllianceIXICO plcLarimar Therapeutics, Inc.NICHD NIH HHS P50 HD105354Novartis Gene TherapiesPTC TherapeuticsTakeda Pharmaceuticals Company Ltd
6 · The paper itself

Abstract

objectiveWe aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children.

methodsTRACK-FA is the largest prospective, longitudinal, multi-modal neuroimaging study in Friedreich ataxia to date. We assessed individuals with Friedreich ataxia and controls, 5 to 42 years, at 7 sites across 4 continents. The 17 imaging primary outcome measures (POMs) were selected from metrics that showed a significant longitudinal change in previous small-scale studies. These included brain and spinal cord morphometry (structural magnetic resonance imaging [MRI]) and microstructure (diffusion MRI); brain iron levels (quantitative susceptibility mapping); and spinal cord biochemistry (magnetic resonance spectroscopy). This study is registered with ClinicalTrials.gov (NCT04349514).

resultsBetween February 2021 and August 2023, we assessed 169 individuals with Friedreich ataxia and 95 controls. Compared to controls, individuals with Friedreich ataxia had lower volume of dentate nucleus and superior cerebellar peduncles; smaller cross-sectional area of spinal cord; lower fractional anisotropy and higher diffusivity in spinal cord and superior cerebellar peduncles; and lower total N-acetyl-aspartate/myo-inositol ratio in spinal cord. Morphometric differences in spinal cord and superior cerebellar peduncles increased dramatically with age during childhood, with rapid development in controls, but not in Friedreich ataxia. Many imaging POMs showed significant associations with clinical severity.

interpretationOur findings provide strong imaging evidence of impaired development of spinal cord and superior cerebellar peduncles during childhood in Friedreich ataxia and open the way for the use of neuroimaging biomarkers in clinical trials. ANN NEUROL 2025;98:386-397.

Indexed as

BrainFriedreich AtaxiaNeuroimagingSpinal CordAdolescentAdultBiomarkersChildChild, PreschoolCross-Sectional StudiesFemaleHumansLongitudinal StudiesMagnetic Resonance ImagingMaleProspective StudiesBiomarkers

Identifiers

PMID40119735
PMCPMC12278190

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.