Clinical trials: Ciliopathies
Autosomal Dominant Polycystic Kidney Disease
A Study to Evaluate Homocysteine Metabolism and Endothelial Function in ADPKD
The purpose of this study is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of…
- Trial name
- HCY (NCT05193981)
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Mayo Clinic
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.
Von Hippel Lindau Disease, Kidney Neoplasms
Von Hippel-Lindau Disease Genetic Epidemiology Study
The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute.
- Trial name
- NCT00001803
- Where
- United States
- Volunteers
- 546 people
- Sponsor
- National Cancer Institute (NCI)
Primary Ciliary Dyskinesia
DCP (RaDiCo Cohort) (RaDiCo-DCP)
Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia.
- Trial name
- DCP (NCT05951478)
- Where
- 32 sites in France
- Volunteers
- 300 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Autosomal Dominant Polycystic Kidney Disease (ADPKD
Hypertension in Children and Young People at Risk of Autosomal Dominant Polycystic Kidney Disease
The goal of this project is to measure the prevalence of Autosomal Dominant Polycystic Kidney Disease (ADPKD) and hypertension in the general population of children and young people at risk of ADPKD, using magnetic resonance…
- Trial name
- HIYA-PKD (NCT07260071)
- Where
- United Kingdom
- Volunteers
- 200 people
- Sponsor
- King's College London
Kidney, Polycystic
HALT Progression of Polycystic Kidney Disease Study A
The efficacy of interruption of the renin-angiotensin-aldosterone system (RAAS) on the progression of cystic disease and on the decline in renal function in autosomal dominant kidney disease (ADPKD) will be assessed in two…
- Trial name
- HALT PKD A (NCT00283686)
- Testing
- Lisinopril, Telmisartan, Standard Blood Pressure Control
- Where
- 7 sites in United States
- Volunteers
- 558 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hippel-Lindau Disease
EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will test the ability of the experimental drug EYE001 to reduce retinal thickening and improve vision in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00056199
- Testing
- EYE001
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
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
Asthma, COPD
Acoustic Waveform Respiratory Evaluation
The study will evaluate the feasibility of using smartphone speakers and microphones to evaluate the caliber of the airways, detect airway obstruction, aid in airway disease diagnosis, and identify disease exacerbations.
- Conditions
- Asthma, COPD, Cystic Fibrosis, Ciliary Motility Disorders
- Trial name
- AWARE (NCT06512064)
- Testing
- AWARE
- Where
- 2 sites in United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- Indiana University
Primary Ciliary Dyskinesia, Kartagener Syndrome
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia
The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults…
- Trial name
- NCT05161858
- Where
- 7 sites in United States, Canada
- Volunteers
- 105 people
- Sponsor
- University of North Carolina, Chapel Hill
Primary Ciliary Dyskinesia
Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance in Patients With Primary Ciliary Dyskinesia
The main aim of the study is to evaluate upper extremity exercise capacity and muscle oxygenation in patients with primary ciliary dyskinesia.
- Trial name
- NCT04895150
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Gazi University
Kartagener Syndrome
Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells.
- Trial name
- NCT00722878
- Where
- 6 sites in United States, Canada
- Volunteers
- 48 people
- Sponsor
- University of North Carolina, Chapel Hill
Ciliary Motility Disorders, Primary Ciliary Dyskinesia
Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and…
- Trial name
- LuFu_PCD (NCT04717115)
- Testing
- Genetic diagnosis
- Where
- Germany
- Volunteers
- 1,500 people
- Sponsor
- University Hospital Muenster
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Observational Study in Patients With Autosomal Dominant Polycystic Kidney Disease
To collect characteristics of patients with ADPKD across a broad population, over time to better understand disease progression (signs, symptoms and outcomes).
- Trial name
- OVERTURE (NCT01430494)
- Where
- 266 sites in United States, Argentina and 18 more
- Volunteers
- 3,409 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Alström Syndrome
Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed a preceding ProMetic-sponsored Alström Syndrome study with…
- Trial name
- NCT03184584
- Testing
- PBI-4050
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Liminal BioSciences Ltd.
Fetal Alcohol Spectrum Disorder
Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy?
Urine sample and exhaled Nitric Oxide will analyzed and compared between children diagnosed with Fetal Alcohol Spectrum Disorder and healthy control. Pilot study- 5 children in each group
- Trial name
- NCT03802708
- Testing
- Metabolomic analysis urine sample
- Where
- Canada
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Alberta
Primary Ciliary Dyskinesia, Kartagener Syndrome
Diagnosis of Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia.
- Trial name
- DCP (NCT00783887)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 125 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Polycystic Kidney, Autosomal Dominant
Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD
The proposed research will determine the effectiveness of curcumin for improving the health and function of arteries in children and young adults with autosomal dominant polycystic kidney disease (ADPKD).
- Trial name
- NCT02494141
- Testing
- Curcumin
- Where
- United States
- Volunteers
- 68 people
- Sponsor
- University of Colorado, Denver
Autosomal Dominant Polycystic Kidney Disease
Role of ROS and cAMP-PKA Biomarkers in ADPKD
The primary objective is to determine the prognostic value of markers of ROS and cAMP-PKA signaling to assess disease severity and progression in patients with ADPKD.
- Trial name
- NCT07217158
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Mayo Clinic