Clinical trials: Bardet Biedl Syndrome
Bardet-Biedl Syndrome, Visual Impairment
Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
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…
- Trial name
- BBS (NCT03490019)
- Testing
- Metformin
- Sponsor
- University Hospital Tuebingen
Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder.
- Trial name
- NCT00078091
- Where
- United States
- Volunteers
- 194 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome
Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity
Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity.
- Conditions
- Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome, Bardet-Biedl Syndrome (BBS), Alstrom Syndrome
- Trial name
- REAL-MC4 (NCT07674290)
- Testing
- Setmelanotide
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Tom Hühne
Bardet Biedl Syndrome (BBS)
Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia.
- Trial name
- AlBaathU (NCT06615011)
- Volunteers
- 100 people
- Sponsor
- Al Baath University
Bardet-Biedl Syndrome, POMC Deficiency
Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
A trial to compare the weekly and daily formulations of setmelanotide in participants with genetic defects in the melanocortin-4 receptor pathway.
- Trial name
- NCT05194124
- Testing
- Setmelanotide 2 mg, Setmelanotide 2.5 mg, Setmelanotide 3 mg
- Where
- 7 sites in United States, Canada and 4 more
- Volunteers
- 19 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Bardet-Biedl Syndrome, POMC Deficiency Obesity
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
This is a phase 3 open-label, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric participants aged 2 to <6 years with obesity due to either biallelic variants…
- Conditions
- Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NCT04966741
- Testing
- Setmelanotide
- Where
- 6 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease
ARPKD Database Study
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl…
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome
- Trial name
- ARPKD (NCT01401998)
- Where
- 6 sites in United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Bardet-Biedl Syndrome, Orphan Diseases
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure).
- Trial name
- NCT00213811
- Testing
- clinical, biological, and radiological
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Strasbourg, France
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
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.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Bardet Biedl Syndrome (BBS), Alström Syndrome (AS)
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
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…
- Trial name
- NCT03746522
- Testing
- Setmelanotide
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 52 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Obesity, Childhood, Hyperphagia
Early Genetic Identification of Obesity
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.
- Conditions
- Obesity, Childhood, Hyperphagia, Retinopathy, Syndactyly
- Trial name
- WEGIO (NCT06239064)
- Testing
- Genetic testing via blood collection
- Where
- 37 sites in Germany
- Volunteers
- 1,000 people
- Sponsor
- Rolfs Consulting und Verwaltungs-GmbH (RCV)
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Bardet-Biedl Syndrome
Clinical Registry Investigating Bardet-Biedl Syndrome
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital…
- Trial name
- CRIBBS (NCT02329210)
- Where
- United States
- Volunteers
- 1,200 people
- Sponsor
- Marshfield Clinic Research Foundation
Bardet-Biedl Syndrome
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
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…
- Trial name
- NCT05400278
- Testing
- No intervention
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Bardet-Biedl Syndrome, Alström Syndrome
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus.
- Trial name
- COBBALT (NCT04461444)
- Testing
- Skin biopsy
- Where
- France
- Volunteers
- 350 people
- Sponsor
- University Hospital, Strasbourg, France
Bardet-Biedl Syndrome (BBS), Obesity
An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
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…
- Trial name
- NCT05183802
- Testing
- Setmelanotide, administered subcutaneously [SC], once daily.
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Bardet-Biedl Syndrome 1, Retinal Degeneration
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1.
- Trial name
- AXIS (NCT07269665)
- Testing
- AXV-101
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Axovia Therapeutics