Trial reportOrphanet journal of rare diseases2015
Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study.
Trial report in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02345200 (Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls), which is not on this map. Cited by 19 papers, 4 of them syntheses that pooled it.
What it found
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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.
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.
Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
Who cites it
19 citing papers in PubMed, 4 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Prevalence of Vitamin D Deficiency in Ataxia-Telangiectasia: A Systematic Review and Single Arm Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Dietary intakes and nutritional issues in inborn errors of immunity: a systematic review.Frontiers in immunology · 2024Pooled it
- Pooled it
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.Journal of clinical immunology · 2021Trial
- Vitamin D Status in Children with Primary Immunodeficiency Disorders Receiving Vitamin D Supplementation: A Retrospective Cross-Sectional Study.Nutrients · 2026Article
- Alpha-ketoglutarate mitigates insulin resistance and metabolic inflexibility in a mouse model of Ataxia-Telangiectasia.Nature communications · 2025Article
- Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.International journal of molecular sciences · 2025Review
- Review
- Lurcher Mouse as a Model of Cerebellar Syndromes.Cerebellum (London, England) · 2025Review
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
- Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis.Canadian journal of gastroenterology & hepatology · 2023Article
- Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia.Cerebellum (London, England) · 2021Article
- Classic ataxia-telangiectasia: the phenotype of long-term survivors.Journal of neurology · 2020Article
- Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study.Frontiers in pediatrics · 2020Article
- Chromosome instability syndromes.Nature reviews. Disease primers · 2019Review
- Progressive Liver Disease in Patients With Ataxia Telangiectasia.Frontiers in pediatrics · 2019Article
- Treatment of Granulomas in Patients With Ataxia Telangiectasia.Frontiers in immunology · 2018Article
- Ataxia telangiectasia: a review.Orphanet journal of rare diseases · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtaxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. Affected patients show growth failure, poor weight gain, low body mass index (BMI), myopenia and increased fatigue during adolescence. The prevalence of alterations in body composition, muscle strength and hormonal status has not been well described in classical A-T patients. Additionally, no current guidelines are available for the assessment and management of these changes.
methodsWe analyzed body composition, manual muscle strength and hormonal status in 25 A-T patients and 26 age-matched, healthy controls. Bioelectrical impedance analysis (BIA) was performed to evaluate the body composition, fat-free mass (FFM), body cell mass (BCM), extracellular matrix (ECM), phase angle (PhA), fat mass (FM) and ECM to BCM ratio. Manual muscle strength was measured using a hydraulic hand dynamometer.
resultsThe BMI, FFM and PhA were significantly lower in A-T patients than in controls (BMI 16.56 ± 3.52 kg/m(2) vs. 19.86 ± 3.54 kg/m(2); Z-Score: -1.24 ± 1.29 vs. 0.05 ± 0.92, p <0.001; FFM 25.4 ± 10.03 kg vs. 41.77 ± 18.25 kg, p < 0.001; PhA: 4.6 ± 0.58° vs. 6.15 ± 0.88°, p < 0.001). Manual muscle strength was significantly impaired in A-T patients compared with controls (10.65 ± 10.97 kg vs. 26.8 ± 30.39 kg, p < 0.0001). In addition, cortisol and dehydroepiandrosterone sulfate (DHEAS) levels were significantly lower in A-T patients than in controls.
conclusionAltered body composition, characterized by depleted BMI, PhA and BCM; by the need to sit in a wheelchair; by altered hormone levels; and by poor muscle strength, is a major factor underlying disease progression and increased fatigue in A-T patients.
trial registrationClinicalTrials.gov NCT02345200.
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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.