Evidence map›Paper›PMID 39225743›Full record

ArticleJournal of neurology2024

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Julien Park, Tatiana Bremova-Ertl, Marion Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Andreas Hahn, Simon Jones, Laila Arash-Kaps, Miriam Kolnikova and 13 more

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Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

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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

23 authors.

Julien ParkDepartment of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de.ORCID http://orcid.org/0000-0003-2305-9948
Tatiana Bremova-ErtlDepartment of Neurology, University Hospital Bern (Inselspital), Bern, Switzerland.
Marion BrandsDepartment of Paediatric Metabolic Disease, Amsterdam University Medical Center, Amsterdam, Netherlands.
Tomas FoltanDepartment of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic.
Matthias GautschiDivision of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Paul GissenNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Andreas HahnDepartment of Child Neurology, Justus Liebig University, Giessen, Germany.
Simon JonesWillink Unit, Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, Manchester, UK.
Laila Arash-KapsSphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim, Germany.
Miriam KolnikovaDepartment of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic.
Marc PattersonDepartments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children's Center, Rochester, MN, USA.
Susan PerlmanDepartment of Neurology, University of California, Los Angeles, CA, USA.
Uma RamaswamiLysosomal Storage Disorder Unit, Royal Free London NHS Foundation Trust, London, UK.
Stella ReichmannováDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Marianne RohrbachDivision of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.
Susanne A SchneiderDepartment of Neurology, Ludwig Maximilians University, Munich, Germany.
Aasef ShaikhDepartment of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Siyamini SivananthanNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Mark WalterfarngDepartment of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia.
Pierre WibawaDepartment of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia.
Kyriakos MartakisDepartment of Child Neurology, Justus Liebig University, Giessen, Germany.
Mario MantoUnité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological symptoms, and quantify the threshold for a clinically meaningful change.

methodsWe analyzed data from three clinical trial cohorts (IB1001-201, IB1001-202, and IB1001-301) of patients with Niemann-Pick disease type C (NPC) and GM2 Gangliosidoses (Tay-Sachs and Sandhoff disease) comprising 122 patients and 703 visits. Reproducibility was described as re-test reliability between repeat baseline visits or baseline and post-treatment washout visits. Responsiveness was determined in relation to the Investigator's, Caregiver's, and Patient's Clinical Global Impression of Improvement (CGI-I). The CGI-I data was also used to quantify a threshold for a clinically meaningful improvement on the SARA scale. Using a qualitative methods approach, patient/caregiver interviews from the IB1001-301 trial were further used to assess a threshold of meaningful change as well as the breadth of neurological signs and symptoms captured and evaluated by the SARA scale.

resultsThe Inter-Class Correlation (ICC) was 0.95 or greater for all three trials, indicating a high internal consistency/reliability. The mean change in SARA between repeat baseline and post-treatment washout visit assessments in all trials was -0.05, SD 1.98, i.e., minimal, indicating no significant differences, learning effects or other systematic biases. For the CGI-I responses and change in SARA scores, Area Under the Curve (AUC) values were 0.82, 0.71, and 0.77 for the Investigator's, Caregiver's, and Patient's CGI-I respectively, indicating strong agreement. Further qualitative analyses of the patient/caregiver interviews demonstrated a 1-point or greater change on SARA to be a clinically meaningful improvement which is directly relevant to the patient's everyday functioning and quality of life. Changes captured by the SARA were also paralleled by improvement in a broad range of neurological signs and symptoms and beyond cerebellar ataxia.

conclusionQualitative and quantitative data demonstrate the reliability and responsiveness of the SARA score as a valid measure of neurological signs and symptoms in LSDs with CNS involvement, such as NPC and GM2 Gangliosidoses. A 1-point change represents a clinically meaningful transition reflecting the gain or loss of complex function.

Indexed as

AtaxiaAdolescentAdultChildChild, PreschoolCohort StudiesFemaleHumansLysosomal Storage DiseasesMaleMiddle AgedOutcome Assessment, Health CareReproducibility of ResultsSeverity of Illness IndexYoung AdultClinical outcome assessmentsLysosomal storage disordersScale for the assessment and rating of ataxia

Identifiers

PMID39225743
PMCPMC11447074

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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 OpenQuestion graph.