Longitudinal Changes in Patient‐ and Clinical‐Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study

Movement Disorders Clinical Practice, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 28, 2025

Abstract Background Clinical outcomes assessments (COAs) in spinocerebellar ataxia (SCA) need to be standardized, ataxia‐specific, sensitive change, clinically relevant, and meaningful patients. Objectives To evaluate the longitudinal 1‐ 2‐year performances of different patient reported outcomes, including Patient Reported Outcome Measure Ataxia (PROM‐Ataxia), clinician FARS SARA, those with early manifest symptoms SCA 1, 2, 3, 6. Methods We studied 53 patients stage SCA1‐3 SCA6 from The Instrumented Data Exchange for Study 24 age‐matched healthy controls. Participants were seen every 6 months 2 years. Mixed models used estimate change over 12‐ 24‐months follow‐up. Changes on FARS‐FS PGI‐C as anchors changes. Results Among persons SCA, mean age was 48.7 years SARA score 9.3. Few measures showed statistically significant changes at 12 months. At 24‐months, FARS‐ADL, PROM‐Ataxia total, physical, ADL scores strongest associations change. Conclusions or derived outcome measures, such FARS‐ADL sub domain PROM‐Ataxia, can capture patients’ symptom experience a period its impact daily activities, even disease. More work is needed identify that reliably earlier.

Language: Английский

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Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia

Movement Disorders, Journal Year: 2025, Volume and Issue: unknown

Published: March 4, 2025

ABSTRACT Background The Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally. Objective We aimed to validate PROM‐Ataxia as a measure patient experience disease over time, examine overall and domain‐specific progression, test convergent validity with other clinical outcome assessments (COAs). Methods derived data from 176 patients spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for Study Cerebellar at baseline 1 year. classified patients' severity stage (“severity”) according Friedreich's Rating Scale Functional Staging into mild , moderate severe subgroups. Analyses entire cohort by subgroup included internal consistency, sensitivity severity, predictive modeling score changes, correlations COAs: Brief Scale, Assessment Ataxia, Fatigue Severity Cognitive Affective Syndrome scale, EuroQol 5‐Dimension, responsiveness progression. Results exhibited high consistency correlated COAs. Scores demonstrated evolving experience. Progression was sigmoidal, greatest change patients. Compared COAs, captured most change. Mental features worsened fastest patients, physical activities daily living Conclusion is more sensitive than captures evolution year, reveals Studies larger cohorts different diagnoses longer periods may provide insights further enhance care research. © 2025 International Parkinson Movement Disorder Society.

Language: Английский

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Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia

Neurology and Therapy, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 13, 2025

The Friedreich Ataxia Rating Scale–Activities of Daily Living (FARS-ADL) is a valid, highly utilized measure for assessing ADL impacts in patients with ataxia. We provide evidence the psychometric validity FARS-ADL two cohorts spinocerebellar ataxia (SCA). Using data from cohort real-world subjects SCA (recruited at Massachusetts General Hospital [MGH]; n = 33) and phase 3 trial troriluzole adults (NCT03701399 [Study 206]; 217), comprising subset SCA3 genotype (n 89), measurement properties minimal change thresholds were examined. Ceiling effects absent within MGH while floor observed eight nine items. Excellent internal consistency reliability was (αtotal 0.88; αitems−removed 0.86–0.87), item-to-total correlations acceptable (r 0.55–0.89 per item). Convergent divergent supported strong demonstrated between scales measuring similar concepts (Neuro-QOL [Upper], Neuro-QOL [Lower], PROM-ADL, PROM-PHYS, FARS-FUNC; all P < 0.001) weaker shown measures differing constructs. A two- to three-point threshold meaningful changes as 0.5 × SD 2.43, SEM 2.19. Mean baseline classified "improved," "no change," or "deteriorated" −0.54, 0.22, 1.47, respectively. Similar trends Study 206 all-SCA cohorts. Psychometric evaluation showed that performed well on analyses examining can detect SCA, including those SCA3. ClinicalTrials.gov identifier, NCT03701399 (Study 206).

Language: Английский

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Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia

Neurology and Therapy, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 15, 2025

The Friedreich Ataxia Rating Scale–Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Ataxia. While construct validity FARS-ADL has been shown spinocerebellar ataxia (SCA), content not established. Individuals SCA1 or SCA3 (n = 7) healthcare professionals (HCPs) SCA expertise 8) participated in qualitative interviews the relevance, clarity, clinical meaningfulness assessment individuals SCA. Interviews were recorded, transcribed, coded, analyzed by ATLAS.Ti v22 software. concepts most frequently reported difficulty walking 7/7), falls 6/7), speech difficulties 4/7), swallowing 3/7). that all items relevant; Gait Walking Bladder Function Falling 6/7) considered extremely relevant. All HCPs 8/8) relevant to SCA; Quality Sitting Position was least meaningful change as 1–2 point score individual 1–3 total 6/6), stability on any item and/or over ≥ 1 year, depending subtype 5/8). Cognitive debriefing supported clarity comprehension FARS-ADL. Suggested improvements included refining response options Dressing, Falling, Walking, items. findings confirm use mild-to-moderate SCA3, offer suggested options.

Language: Английский

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STOP-HSP.net: An Italian formal registry for clinical trial readiness in hereditary spastic paraplegias

Neurological Sciences, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 22, 2025

Language: Английский

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Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial

Annals of Neurology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 9, 2024

Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar (HCA). This multicenter, randomized controlled superiority trial aimed examine the efficacy of a 30-week goal-directed rehabilitation program compared 30 weeks standard care on function, ataxia, health-related quality life, and balance an HCA.

Language: Английский

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The Importance of Early Recognition, Diagnosis, and Treatment of Friedreich Ataxia

European Medical Journal, Journal Year: 2024, Volume and Issue: unknown, P. 14 - 23

Published: Sept. 12, 2024

At the 2024 European Association of Neurology (EAN) Congress, one satellite symposium discussed recognition, diagnosis, and treatment Friedreich ataxia (FA), most common hereditary ataxia. This condition is characterised by progressive neurodegeneration, multisystem complications, loss ambulation, reductions in ability to carry out activities daily living (ADL). For many, there also a premature death. FA caused guanine-adenine-adenine triplet (GAA) repeat expansions gene FXN. codes for protein frataxin, which associated with impaired mitochondrial function, increased sensitivity oxidative stress reactive oxygen species levels, inflammation, cell Decreased frataxin leads symptoms FA, including increasing spasticity, pain, dysphagia, cardiac problems, speech impairment, pes cavus, scoliosis. The speakers highlighted how delays diagnosis can occur when mistaken other ataxias they called use genetic biochemical testing early patient pathway. best accomplished prompt referral specialists Treatment care patients along their families, require multidisciplinary approach involving allied healthcare professionals, among specialists. Effective communication support amongst such networks key providing individualised where patient’s health disease progression are regularly monitored conditions treated appropriately. Currently, only approved FA-specific drug EU USA 16 years older omaveloxolone. Clinical trials this have shown that it provide sustained benefit slowing over 3-year period aged older. particularly evident omaveloxolone prescription not delayed. In future, pipeline drugs expected add potential disease-slowing treatments FA.

Language: Английский

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L-arginine in patients with spinocerebellar ataxia type 6: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial

EClinicalMedicine, Journal Year: 2024, Volume and Issue: unknown, P. 102952 - 102952

Published: Nov. 1, 2024

Language: Английский

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