Dataset Information

Mapping the evidence of multidimensional health approaches in treating individuals with Prader-Willi Syndrome: A scoping review protocol.

ABSTRACT:

Introduction

Prader-Willi Syndrome (PWS) is one of the rare diseases involving genetics and affects various body systems. The disease is known due to the absence of paternal genes on chromosome 15q11-q13. Multisystem complex conditions require interdisciplinary healthcare treatment. However, to the best of our knowledge, there is little evidence of an established successful model of an interdisciplinary approach in managing rare diseases like PWS.

Methods and analysis

The scoping review process follows the five-staged Arksey and O'Malley (2005) methodology framework excluding the optional consultation stage (stage 6): the definition of the research questions (step 1); the eligibility criteria and search strategy are defined (stage 2); the study selection process based on the eligibility criteria identified will follow (stage 3); a framework developed for this review will then inform the extraction and charting of data from the included studies (step 4) and results will be aggregated and summarised with criteria relevant for health professionals and policymakers (stage 5). We will search for electronic databases (MEDLINE/PubMed, Scopus, Web of Science), grey literature sources and critical studies' reference lists to determine the appropriate inclusion criteria. Three researchers will review all abstracts and full-text studies for inclusion.

Ethics and dissemination

This scoping review methodology does not require ethical approval since it aims to synthesise information from available publications. A scoping review article will be submitted for publication to a scientific journal following this protocol.

SUBMITTER: Che Din N

PROVIDER: S-EPMC8756288 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n. carbetocin, an oxytocin analog, was evaluated in a prospective, randomized, double-blinded trial in adolescents with PWS. METHODS:Eligible patients aged 10-18 years with genetically confirmed PWS were randomized (1:1) to i.n. carbetocin or placebo 3 times daily for 14 days. The primary efficacy endpoint was change in parent/caregiver-rated Hyperphagia in PWS Questionnaire-Responsiveness (HPWSQ-R) total score. Secondary efficacy endpoints included HPWSQ-R behavior, drive, and severity domains; clinician-rated HPWSQ; Children's Yale-Brown Obsessive-Compulsive Severity Scale; food domain of the Reiss Profile; and Clinical Global Impression-Improvement scale. Endpoints were assessed using analysis of covariance. Relationship between primary and secondary endpoints was assessed using Pearson correlation coefficients. Safety was assessed throughout the study. RESULTS:Demographics and clinical characteristics were similar between treatment groups (carbetocin, n = 17; placebo, n = 20). Patients receiving carbetocin had statistically significant reductions in HPWSQ-R total score at study end (-15.6) versus patients receiving placebo (-8.9; P = 0.029); several secondary efficacy endpoints also demonstrated significant differences (P < 0.05). Treatment effects for the primary and secondary endpoints were highly correlated (P ? 0.0001). Incidence of adverse events (AEs) was similar between treatment groups. CONCLUSION:I.n. carbetocin was well tolerated and improved hyperphagia and behavioral symptoms of PWS. TRIAL REGISTRATION:ClinicalTrials.gov: NCT01968187FUNDING. The study was funded by Ferring Pharmaceuticals. Recruitment was aided by ongoing work in PWS performed through Eunice Kennedy Shriver National Institute of Child Health and Human Development grant U54 HD083211.