Active clinical trials for "Prader-Willi Syndrome"

The PWS is a genetic disease with intellectual disabilities associated with multiple manifestations in other body systems. It is characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the early years of life, conditioning feeding difficulties. Hyperphagia appears later, causing severe obesity in pre - school ages. Other endocrine abnormalities associated produce short stature, GH deficiency and hypogonadotropic hypogonadism. These patients also have varying cognitive dysfunction associated as well as learning problems, compounded by the development of psychological-psychiatric and behavioral problems language. The aetiology of GH decreased secretion of the SPW is controversial, it is known that IGF -1 levels are reduced in children and adults with PWS. The rational use of GH is derived from knowledge of comorbidities observed in PWS, which seem to be related to GH deficiency: hypotonia, altered body composition, decreased growth, even obesity. • The GH is accepted since 2000 for the treatment of PWS. Following fatal episodes in our country, it was decided to start treatment at 2 years of age in an arbitrary manner, but not in the U.S. or France. Subsequent studies have found that GH per se is not a risk factor for mortality. The currently published data supporting the benefits of GH treatment when started between 4 and 6 months of life, even some experts advocate starting at 3 months, but due to the lack of consensus on the age of onset treatment, despite the benefits of your home at an early age before the onset of obesity often starts around 2 years of life. HYPOTHESIS The use of GH is safe and effective in patients with PWS children under 2 years old.

The inflammatory process is involved in the pathogenesis of obesity. Prader-Willi syndrome (PWS) is a genetic model of syndromic obesity. Adiponectin is an adipokine with potent anti-inflammatory properties, and its effect is mediated through adiponectin receptors 1 (adipoR1) and 2 (adipoR2). Objective of this study is to compare the expression of adipoR1, adipoR2, and adiponectin in peripheral blood mononuclear cells (PBMCs) in PWS children and obese control and to correlate receptor expression with insulin sensitivity and obesity-related parameters.

This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for Norditropin® treatment with Prader-Willi Syndrome.

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects about 1 in 14,000 people in the United States. As the most commonly identified genetic cause of obesity, PWS is often confused with Early-onset Morbid Obesity (EMO). Individuals with EMO show some signs of PWS, but clinically do not have PWS. The purpose of this study is to evaluate the clinical features and genetic basis of PWS and EMO, and to determine how these conditions affect a person throughout a lifetime.

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and validating a screening test for AS and PWS.

This project will study whether infants with Prader-Willi Syndrome experience low blood sugars after short periods of fasting. This study will also evaluate metabolic markers in the blood to determine if infants with Prader-Willi Syndrome process energy differently than other children during fasting.

The projects aim is to investigate the intestinal function of patients suffering from Prader-Willi Syndrome. The methods used are ultrasonographic measurement of the rectal diameter and gastrointestinal transit time

Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.