Economic burden and health‐related quality of life associated with Prader–Willi syndrome in France

Chevreul, Karine; Brigham, Karen Berg; Clément, Marie; Poitou, Christine; Tauber, Maïthé

doi:10.1111/jir.12288

Cited by 15 publications

(7 citation statements)

References 25 publications

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“…Combined doctors’ and patients’ delay can lead to medical complications and hospital admission. Timely recognition of comorbidities can reduce medical complications and associated personal and financial burdens ( 41 ).…”

Section: Introductionmentioning

confidence: 99%

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

Pellikaan

Rosenberg

Kattentidt-Mouravieva

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the cause of death is obesity related and / or of cardiopulmonary origin. Health problems leading to this increased mortality often remain undetected due to the complexity and rareness of the syndrome Objective To assess the prevalence of health problems in adults with PWS retrospectively Patients, Design and Setting We systematically screened 115 PWS adults for undiagnosed health problems. All patients visited the multidisciplinary outpatient clinic for rare endocrine syndromes at the Erasmus University Medical Center, Rotterdam, the Netherlands. We collected results of medical questionnaires, interviews, physical examinations, biochemical measurements, poly(somno-)graphy and radiology Main outcome measures Presence or absence of endocrine and non-endocrine comorbidities in relation to living situation, body mass index, genotype and demographic factors Results Seventy patients (61%) had undiagnosed health problems, while one in every four patients had multiple undiagnosed health problems simultaneously. All males and 93% of females had hypogonadism, 74% scoliosis, 18% hypertension, 19% hypercholesterolemia, 17% type 2 diabetes mellitus and 17% hypothyroidism. Unfavourable lifestyle was common: 22% exercised too little (according to PWS criteria) and 37% did not see a dietitian Conclusions Systematic screening revealed many undiagnosed health problems in PWS-adults. Based on patient characteristics, we provide an algorithm for diagnostics and treatment, with the aim to prevent early complications and reduce mortality in this vulnerable patient group

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Section: Introductionmentioning

confidence: 99%

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

Pellikaan

Rosenberg

Kattentidt-Mouravieva

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…Hyperphagia is the central and constant feature of the syndrome starting after the first 3 years of life and is associated with abnormal and extreme behaviors toward food [ 2 , 3 ]. Hyperphagia and food-related behaviors dramatically impair socialization and occupational performance and substantially deteriorate quality of life of patients and caregivers [ 4 , 5 ] and is responsible for significant morbidity and mortality [ 6 ]. There is no approved pharmacological treatment for hyperphagia.…”

Section: Introductionmentioning

confidence: 99%

AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial

Allas¹,

Caixàs

Poitou

et al. 2018

PLoS ONE

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Context and objectivePrader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a relative deficit of Unacylated Ghrelin (UAG). AZP-531, a first-in-class UAG analog, was shown to inhibit the orexigenic effect of AG in animals, to improve glycemic control and decrease body weight in humans. We aimed to investigate the safety and efficacy of AZP-531 in patients with PWS for whom no approved treatment for hyperphagia is currently available.Methods and designMulti-center, randomized, double-blind, placebo-controlled trial. Forty-seven patients with genetically confirmed PWS and evidence of hyperphagia received daily subcutaneous injections of AZP-531 (3 and 4 mg for 50–70 kg and >70 kg body weight, respectively) or matching placebo for 14 days. Assessments included adverse events, vital signs, safety laboratory tests, the Hyperphagia Questionnaire (HQ), patient-reported appetite, body composition and glycemic measures.ResultsAZP-531 was well tolerated. There was a significant improvement with AZP-531 versus placebo in the mean total score, the 9-item score and the severity domain score of the HQ (p < .05). The highest reduction in the total and 9-item scores was observed in AZP-531 subjects with the highest hyperphagia score at baseline. Findings were supported by a reduction in appetite scores observed with AZP-531 only. Body weight did not change in both groups while a significant reduction in waist circumference and fat mass was observed only with AZP-531. AZP-531 significantly decreased post-prandial glucose levels in a baseline glucose dependent fashion.ConclusionsAZP-531 may constitute a new treatment strategy to improve hyperphagia and metabolic issues in patients with PWS. These findings support further investigation in longer-term clinical trials.

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“…Open access are high, estimated in 2016 to be €60 k per individual per annum. [9][10][11] The musculoskeletal features of PWS include abnormal growth and body composition. 12 People with PWS have very low lean body mass, muscle weakness and hypotonia.…”

Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

Progressive resistance training in young people with Prader-Willi syndrome: protocol for a randomised trial (PRESTO)

et al. 2022

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IntroductionPreliminary evidence suggests that progressive resistance training may be beneficial for people with Prader-Willi Syndrome (PWS), a rare genetic condition that results in muscle weakness and low muscle tone.To establish whether community-based progressive resistance training is effective in improving the muscle strength of people with PWS; to determine cost-effectiveness; and, to complete a process evaluation assessing intervention fidelity, exploring mechanisms of impact, understanding participant experiences and identifying contextual factors affecting implementation.Methods and analysisA multisite, randomised controlled trial will be completed. Sixty participants with PWS will be randomised to receive either progressive resistance training (experimental) or non-progressive exercise (placebo control). Participants will be aged 13 to 60 years, be able to follow simple instructions in English and have no contraindications to performing progressive resistance training. The experimental group will complete progressive resistance training two times weekly for 24 weeks supervised by an exercise professional at a community gym. The control group will receive all aspects of the intervention except progressive overload. Outcomes will be assessed at week 25 (primary endpoint) and week 52 by a blinded assessor. The primary outcome is muscle strength assessed using one repetition maximum for upper limb and lower limb. Secondary outcomes are muscle mass, functional strength, physical activity, community participation, health-related quality of life and behaviour. Health economic analysis will evaluate cost-effectiveness. Process evaluation will assess safety and intervention fidelity, investigate mechanism of impact, explore participant experiences and identify contextual factors affecting implementation. Data collection commenced in February 2020 and will conclude in September 2023.Ethics and disseminationEthical approval was obtained from The Royal Children’s Hospital Human Research Ethics Committee (HREC/50874/RCHM-2019) under the National Mutual Acceptance initiative. Research governance approvals were obtained from five clinical sites. Results will be disseminated through published manuscripts, conference presentations, public seminars and practical resources for stakeholder groups.Trial registration numberACTRN12620000416998; Australian and New Zealand Clinical Trial Registry.

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Economic burden and health‐related quality of life associated with Prader–Willi syndrome in France

Cited by 15 publications

References 25 publications

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial

Progressive resistance training in young people with Prader-Willi syndrome: protocol for a randomised trial (PRESTO)

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