Clinical Trials in Prader–Willi Syndrome: A Review

Mahmoud, Ranim; Kimonis, Virginia; Butler, Merlin G.

doi:10.3390/ijms24032150

Cited by 15 publications

(10 citation statements)

References 59 publications

(89 reference statements)

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“…Research, including studies on mouse models lacking PWS-associated genes, has highlighted the potential of oxytocin in normalizing behaviors associated with PWS. This provides strong scientific support for using oxytocin as a treatment for this condition [32,35].…”

Section: Drug In Trial-oxytocinmentioning

confidence: 71%

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An Analysis of Metabolic Conditions and Current Therapeutic Approaches: A Systematic Review

Trivedi,

Fayaz,

Korban

et al. 2024

Preprint

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This review rigorously investigates the evolving pharmacological landscape for metabolic disorders, focusing on Phenylketonuria (PKU), Inflammatory Bowel Disease (IBD), Galactosemia, Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD), and Prader-Willi Syndrome (PWS). Adhering to PRISMA guidelines, we meticulously searched databases such as NHS, Rare Diseases, Pubchem, Clinical Trials, DrugBank, PubMed, and Mayo Clinic, spanning from January 2000 to December 2023. Our objective was to evaluate the efficacy and potential of both FDA-approved drugs and those in clinical trials. The review revealed significant advancements in the treatment of disorders like PKU, with drugs like Kuvan facilitating improved metabolic functioning. In IBD, treatments have progressed to specifically target inflammatory pathways using drugs like Azathioprine and Mesalazine, shifting away from broader immunosuppressants. Galactosemia and MCADD, disorders without definitive cures, have shown potential in clinical trials with investigational drugs like AT-007 and Triheptanoin. Particularly intriguing are the ongoing trials for PWS, a complex syndrome, where Oral NNZ-2591 and Oxytocin demonstrate promising potential. These findings highlight the critical importance of specialized treatment strategies, tailored to address the unique metabolic challenges posed by each disorder. The diverse nature of these disorders necessitates a multifaceted approach, combining current scientific knowledge with innovative drug development. This study not only contributes to a better understanding of existing treatments but also emphasizes the need for continued research and development to uncover more effective and personalized therapeutic options for managing these varied metabolic disorders.

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Section: Drug In Trial-oxytocinmentioning

confidence: 71%

“…Despite varying results, some trials noted improvements in anxiety, self-harm behaviors, and in certain groups, excessive hunger and repetitive behav- iors. However, OT's effectiveness seems to depend on factors like dosage, patient age, and genetic background, suggesting a complex relationship between OT and PWS [32,33,34].…”

Section: Drug In Trial-oxytocinmentioning

confidence: 99%

An Analysis of Metabolic Conditions and Current Therapeutic Approaches: A Systematic Review

Trivedi,

Fayaz,

Korban

et al. 2024

Preprint

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“…To date, there are many drugs under investigation which impact on the lipid metabolism and the regulation of satiety/appetite pathways, such as intranasal oxytocin and oxytocin analogs, diazoxide, and beloranib [ 58 , 59 ]. Unfortunately, however, a randomized study on Beloranib was stopped due to venous thromboembolic events [ 63 , 64 ].…”

Section: Pharmacological Treatmentmentioning

confidence: 99%

“…Livoletide, an unacylated ghrelin analog, was initially proposed to ameliorate hyperphagia in PWS [ 4 , 65 ]; however, the trials were discontinued due to lack of efficacy [ 64 ].…”

Section: Pharmacological Treatmentmentioning

confidence: 99%

Prader–Willi Syndrome and Weight Gain Control: From Prevention to Surgery—A Narrative Review

et al. 2023

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Severe obesity remains one of the most important symptoms of Prader–Willi Syndrome (PWS), and controlling weight represents a crucial point in the therapeutical approach to the syndrome. We present an overview of different progressive patterns of growth that involve controlling weight in PWS. Mechanisms involved in the development of obesity and in preventive and therapeutic strategies to control weight gain are discussed. Early diagnosis, a controlled diet regimen, regular physical activity, follow-up by multidisciplinary teams, and hormonal treatment improved the management of excessive weight gain. In selected cases, a surgical approach can be also considered. Controlling weight in PWS remains a challenge for pediatricians. The importance of consulting different healthcare specialists, starting from the neonatal and pediatric age, is also considered as a crucial approach to controlling weight, as well as to limiting and preventing the onset of obesity and its complications.

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“…The majority of cases are due to paternal deletion (65%) and maternal uniparental disomy (UPD) (30%). [4] PWS is characterized by severe hypotonia, feeding di culties, hyperphagia and obesity, hypogonadism, learning disabilities, and psychiatric conditions [5] . Orthopedic-related diseases of PWS include scoliosis, hip dysplasia(HD), osteoporosis, genu valgum, and foot deformities [2,6,7] .…”

mentioning

confidence: 99%

The prevalence and surgical outcome of Hip Dysplasia in children with Prader-Willi Syndrome

Mo,

Wu,

Huang

et al. 2024

Preprint

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Background Prader-Willi syndrome (PWS) is a rare disease. Orthopedic-related diseases of PWS include scoliosis, hip dysplasia, osteoporosis, genu valgum, and foot deformities. Limited literature exists on the prevalence, diagnosis, and surgical management of hip dysplasia (HD) in PWS. This study aims to assess the prevalence of hip dysplasia in children with PWS and to evaluate the outcomes following surgical intervention. Materials and Methods A retrospective analysis was conducted on patients diagnosed with PWS at our institution from January 2017 to December 2021. Only those with a genetic confirmation of PWS and an anteroposterior (AP) pelvic radiograph were included. Patient demographics were collected, and the acetabular index (AI) was measured. For children over five years of age, the central edge angle (CEA) was also recorded. A single fellowship-trained pediatric orthopedic surgeon determined the presence of HD based on radiographic measurements. Patients who underwent surgery were followed up for a minimum of 12 months. Results Among the 178 patients with PWS (100 males and 78 females), 99 had AP pelvic radiograph, of which 33 met the criteria of HD, with a prevalence of 33.3%. There was no significant association between prevalence and sex (P = 0.769) or genetic subtype (P = 0.574). The mean age at the time of diagnosis was 34.4 months (6 months to 109 months). Five patients (2 right side, 3 bilateral) underwent surgical intervention, including Salter innominate osteotomy, proximal femoral osteotomy, and close/open reduction of the hip, at an average age of 82.4 months. One patient (2 hips) was lost to follow-up 1.5 months post cast removal. There was a statistically significant improvement in AI from preoperative (42.8 ± 5.9 degrees) to postoperative (21.7 ± 7.7 degrees) measurements (P = 0.003). One hip resulted in stiffness with a flexion of 60 degrees, while the others showed good mobility. No serious postoperative complications were reported during the follow-up. Conclusions The present study demonstrated a higher prevalence of hip dysplasia in patients with PWS than in the general population. The prevalence does not significantly differ across sexes or genetic subtypes. Surgical treatment could reach a similar results as to those of hip dysplasia without PWS.

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Clinical Trials in Prader–Willi Syndrome: A Review

Cited by 15 publications

References 59 publications

An Analysis of Metabolic Conditions and Current Therapeutic Approaches: A Systematic Review

An Analysis of Metabolic Conditions and Current Therapeutic Approaches: A Systematic Review

Prader–Willi Syndrome and Weight Gain Control: From Prevention to Surgery—A Narrative Review

The prevalence and surgical outcome of Hip Dysplasia in children with Prader-Willi Syndrome

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