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Bardet-Biedl Syndrome clinical trials

View clinical trials related to Bardet-Biedl Syndrome.

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NCT ID: NCT06239064 Recruiting - Clinical trials for Cognitive Impairment

Early Genetic Identification of Obesity

WEGIO
Start date: January 24, 2024
Phase:
Study type: Observational

TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS) NUMBER OF PARTICIPANTS: 1000 for initial genetic sequencing and app. 40 for the follow-up documentation COORDINATING INVESTIGATOR: Prof. Dr. Arndt Rolfs

NCT ID: NCT05400278 Enrolling by invitation - Clinical trials for Bardet-Biedl Syndrome

Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome

Start date: February 1, 2022
Phase:
Study type: Observational

Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning difficulties. This study aims to contribute to genetic and medical knowledge of BBS, and to provide information on quality of life in adults with BBS and their close relatives. Participants will undergo medical assessments (ocular, oral, and physical examinations) and self-reporting of quality of life, diet, cognitive and emotional symptoms. There are some known genotype-phenotype associations in BBS and participants will be offered genetic testing. It is important to map both genotype and associated phenotype in order to provide optimal treatment and follow-up. Individuals with BBS, age 16 years or older, will be invited to participate. The investigators expect to enroll at least 25 male and female adults with BBS and 15 of their parents to participate in qualitative interviews. These interviews will investigate parents' experiences having a child with BBS, satisfaction with health care services, experience with social and family life, and psychological health.

NCT ID: NCT05194124 Completed - Clinical trials for Bardet-Biedl Syndrome

Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Patients With Specific Gene Defects in the MC4R Pathway

Start date: December 21, 2021
Phase: Phase 3
Study type: Interventional

A trial to compare the weekly and daily formulations of setmelanotide in patients with genetic defects in the melanocortin-4 receptor pathway.

NCT ID: NCT05183802 Approved for marketing - Obesity Clinical Trials

An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)

Start date: n/a
Phase:
Study type: Expanded Access

An open-label, single-arm, multicenter, Expanded Access Protocol [EAP] designed to provide treatment access to setmelanotide (3 mg, administered subcutaneously [SC], once daily) for eligible patients with BBS who have no alternative treatment options. All patients will continue to receive setmelanotide at the discretion of the Treating Physician and while they are deriving clinical benefit.

NCT ID: NCT04966741 Completed - Clinical trials for Bardet-Biedl Syndrome

Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity

Start date: February 16, 2022
Phase: Phase 3
Study type: Interventional

This is a phase 3 open-label, one-arm, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric patients aged 2 to <6 years with obesity due to either biallelic variants of the POMC, PCSK1 or LEPR genes or Bardet-Biedl Syndrome (BBS).

NCT ID: NCT04874909 Recruiting - Clinical trials for Bardet-Biedl Syndrome

Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)

CILLICORIRCM
Start date: November 8, 2021
Phase: N/A
Study type: Interventional

The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure. The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.

NCT ID: NCT04463316 Recruiting - Clinical trials for Prader-Willi Syndrome

GROWing Up With Rare GENEtic Syndromes

GROW UR GENES
Start date: October 1, 2018
Phase:
Study type: Observational

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

NCT ID: NCT04461444 Recruiting - Clinical trials for Bardet-Biedl Syndrome

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study

COBBALT
Start date: June 16, 2020
Phase: N/A
Study type: Interventional

ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life. The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations

NCT ID: NCT03746522 Completed - Clinical trials for Bardet Biedl Syndrome (BBS)

Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity

Start date: November 23, 2018
Phase: Phase 3
Study type: Interventional

This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in participants with Bardet Biedl syndrome (BBS) or Alström syndrome (AS). The study's primary efficacy endpoint is to evaluate the proportion of participants (≥ 12 years of age at baseline) who lose ≥ 10% of their baseline body weight following approximately (~) 52 weeks of treatment with setmelanotide compared to a historical control rate.

NCT ID: NCT03490019 Withdrawn - Visual Impairment Clinical Trials

Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement

BBS
Start date: April 1, 2018
Phase: Phase 2
Study type: Interventional

In this prospective pilot study without control group children and young adults (10-25 years old) diagnosed with Bardet-Biedl syndrome and treated with Metformin for their adipositas will be evaluated for a possible additional effect of Metformin on visual acuity.