Milne, Sarah C

Roberts, Melissa

Williams, Shannon

Chua, Jillian

Grootendorst, Alison C

Agostinelli, Genevieve

Grobler, Anneke C

Ross, Hannah L

Robinson, Amy

Grove, Kristen

Modderman, Gabrielle

Price, Annabel

Thomson, Megan

Massey, Libby

Liang, Christina

Kumar, Kishore R

Dalziel, Kim

Burns, Joshua

Sue, Carolyn M

Pathirana, Pubudu N

Horne, Malcolm

Gelfard, Nikki

Curd, Helen

Szmulewicz, David

Corben, Louise A

Delatycki, Martin B

2024-11-09

Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed rehabilitation program compared with 30 weeks of standard care on function, ataxia, health-related quality of life, and balance in individuals with an HCA.Individuals with an autosomal dominant or recessive ataxia (aged ≥15 years) were enrolled at 5 sites in Australia. Participants were randomized (1:1) to receive rehabilitation (6 weeks of outpatient physiotherapy followed by a 24-week home exercise program) (n = 39) or continued their usual activity (n = 37). The primary outcome measure was the motor domain of the Functional Independence Measure (mFIM) at 7 weeks. Secondary outcomes included the Scale for the Assessment and Rating of Ataxia (SARA) and the SF-36v2, assessed at 7, 18, and 30 weeks. Outcome assessors were blinded to treatment allocation.Seventy-one participants (rehabilitation, 37; standard-care, 34) were included in the intention-to-treat analysis. At 7 weeks, mFIM (mean difference 2.26, 95% confidence interval [CI]: 0.26 to 4.26, p = 0.028) and SARA (-1.21, 95% CI: -2.32 to -0.11, p = 0.032) scores improved after rehabilitation compared with standard care. Compared with standard care, rehabilitation improved SARA scores at 30 weeks (mean difference -1.51, 95% CI: -2.76 to -0.27, p = 0.017), but not mFIM scores (1.74, 95% CI: -0.32 to 3.81, p = 0.098). Frequent adverse events in both groups were fatigue, pain, and falls.Goal-directed rehabilitation improved function at 7 weeks, with improvement in ataxia and health-related quality of life maintained at 30 weeks in individuals with HCA, beyond that of standard care. ANN NEUROL 2024.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Australia.

Physiotherapy Department, Monash Health, Cheltenham, Australia.

School of Primary and Allied Health Care, Monash University, Frankston, Australia.

Department of Pediatrics, The University of Melbourne, Parkville, Australia.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Australia.

Physiotherapy Department, Monash Health, Cheltenham, Australia.

Physiotherapy Department, Sir Charles Gairdner Hospital, Nedlands, Australia.

Physiotherapy Department, Royal Perth Hospital, Perth, Australia.

Ryde Hospital, Eastwood, Australia.

MJD Foundation, Darwin, Australia.

MJD Foundation, Darwin, Australia.

Department of Pediatrics, The University of Melbourne, Parkville, Australia.

Clinical Epidemiology and Biostatistics Unit, Murdoch Children's Research Institute, Parkville, Australia.

Physiotherapy Department, Monash Health, Cheltenham, Australia.

Physiotherapy Department, Royal North Shore Hospital, St Leonards, Australia.

Physiotherapy Department, Sir Charles Gairdner Hospital, Nedlands, Australia.

Physiotherapy Department, Royal Perth Hospital, Perth, Australia.

Rehabilitation Services, Royal Darwin and Palmerston Regional Hospital, Darwin, Australia.

Physiotherapy Department, Royal North Shore Hospital, St Leonards, Australia.

Physiotherapy Department, Monash Health, Cheltenham, Australia.

MJD Foundation, Darwin, Australia.

College of Public Health Medical and Veterinary Sciences, James Cook University, Townsville, Australia.

Kolling Institute of Medical Research, University of Sydney, St Leonards, Australia.

Department of Neurology, Royal North Shore Hospital, St Leonards, Australia.

Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, The University of Syndey, Concord, Australia.

Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, Australia.

St Vincent's Healthcare Clinical Campus, UNSW Medicine & Health, UNSW Sydney, Kensington, Australia.

Melbourne School of Population and Global Health, University of Melbourne, Parkville, Australia.

Disability Prevention Program, St. Jude Children's Research Hospital, Memphis, TN, USA.

Centre for Neurodegeneration, Neuroscience Research Australia, Sydney, Australia.

Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.

Department of Neurology, Prince of Wales Hospital, Sydney, Australia.

School of Engineering, Deakin University, Geelong, Australia.

Bionics Institute, East Melbourne, Australia.

Department of Medicine, St Vincent's Hospital, The University of Melbourne, Parkville, Australia.

Monash Genetics, Monash Health, Clayton, Australia.

Monash Genetics, Monash Health, Clayton, Australia.

Bionics Institute, East Melbourne, Australia.

Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.

Monash Medical Centre, Monash Health, Clayton, Australia.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Australia.

Department of Pediatrics, The University of Melbourne, Parkville, Australia.

Turner Institute for Brain and Mental Health, Monash University, Clayton, Australia.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Australia.

Department of Pediatrics, The University of Melbourne, Parkville, Australia.

Victorian Clinical Genetics Services, Melbourne, Australia.

Annals of neurology 2024 -

1531-8249

0000-0002-9406-8609

0000-0003-3482-6962

https://pubmed.ncbi.nlm.nih.gov/39520242/?otool=iaurydwlib

https://hdl.handle.net/10137/13819

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

Journal Article

Publication