Clinical trials: Ciliopathies
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)
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease)
The primary objective of the study is to assess the long term safety of treatment with tolvaptan in children and adolescents with autosomal dominant polycystic kidney disease (ADPKD).
- Trial name
- NCT02964273
- Testing
- Tolvaptan
- Where
- 20 sites in Belgium, Germany and 2 more
- Volunteers
- 91 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
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.
Autosomal Dominant Polycystic Kidney Disease
A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002]
ADPKD patients who were enrolled in Study 156-05-002 will receive repeated oral administration of OPC-41061 at doses of 15 mg twice daily (morning and evening).
- Trial name
- NCT01022424
- Testing
- OPC-41061
- Where
- Japan
- Volunteers
- 13 people
- Sponsor
- Otsuka Pharmaceutical Co., Ltd.
Primary Ciliary Dyskinesia
Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
To evaluate the safety and efficacy of treatment with VX-371 with and without ivacaftor, and the effect of VX-371 with and without ivacaftor on quality of life (QOL) in subjects with primary ciliary dyskinesia (PCD).
- Trial name
- CLEAN-PCD (NCT02871778)
- Testing
- VX-371, Hypertonic Saline, VX-371 + HS
- Where
- 34 sites in United States, Canada and 6 more
- Volunteers
- 123 people
- Sponsor
- Parion Sciences
Kidney, Polycystic
HALT Progression of Polycystic Kidney Disease Study B
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 B (NCT01885559)
- Testing
- Lisinopril, Telmisartan
- Where
- 7 sites in United States
- Volunteers
- 486 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Autosomal Dominant Polycystic Kidney Disease
A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001]
Investigation into the long-term safety and efficacy of OPC-41061 in repeated oral administrations at doses of 15 mg twice daily in patients with ADPKD who completed the preceding dose-finding study (156-04-001).
- Trial name
- NCT00841568
- Testing
- OPC-41061
- Where
- Japan
- Volunteers
- 17 people
- Sponsor
- Otsuka Pharmaceutical Co., Ltd.
Polycystic Kidney, Autosomal Dominant
Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
The purpose of this study is to determine whether the medication pravastatin will ameliorate renal and cardiovascular disease over a 3-year period in children and young adults with autosomal dominant polycystic kidney disease…
- Trial name
- NCT00456365
- Testing
- pravastatin
- Where
- United States
- Volunteers
- 110 people
- Sponsor
- University of Colorado, Denver
Polycystic Kidney, Autosomal Dominant
Post-Marketing Surveillance Study of Tolvaptan in Patients With ADPKD
The purpose of this study is to evaluate the safety and effectiveness of tolvaptan in patients with autosomal dominant polycystic kidney disease (ADPKD) in the real world clinical setting in Japan.
- Trial name
- NCT02847624
- Testing
- tolvaptan
- Where
- Japan
- Volunteers
- 1,802 people
- Sponsor
- Otsuka Pharmaceutical Co., Ltd.
Von Hippel-Lindau Syndrome
Pazopanib Hydrochloride in Treating Patients With Von Hippel-Lindau Syndrome
This phase II trial studies the side effects and how well pazopanib hydrochloride works in treating patients with von Hippel-Lindau syndrome.
- Trial name
- NCT01436227
- Testing
- Laboratory Biomarker Analysis, Pazopanib Hydrochloride
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- M.D. Anderson Cancer Center
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.
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
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Autosomal Dominant Polycystic Kidney, ADPKD
A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON
This international, multi-center, randomized, double-blind, placebo-controlled Phase 3 trial will study the safety, tolerability, and efficacy of bardoxolone methyl in qualified patients with ADPKD.
- Trial name
- FALCON (NCT03918447)
- Testing
- Bardoxolone methyl oral capsule
- Where
- 137 sites in United States, Australia and 8 more
- Volunteers
- 667 people
- Sponsor
- Biogen
Von Hippel-Lindau Disease
Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease
Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. These tumors are more aggressive in some people than in others.
- Trial name
- NCT00062166
- Where
- United States
- Volunteers
- 340 people
- Sponsor
- National Cancer Institute (NCI)
Neuroendocrine Tumors, Von Hippel-Lindau Syndrome
Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors
Background: Neuroendocrine tumors (NETs) are rare but have been more common over the past decade. The only treatment for NETs is surgery, but most are found when they are too advanced for surgery.
- Conditions
- Neuroendocrine Tumors, Von Hippel-Lindau Syndrome, Hippel-Lindau Disease
- Trial name
- NCT01967537
- Testing
- 68Gallium DOTATATE, Radio-guided surgery
- Where
- United States
- Volunteers
- 341 people
- Sponsor
- National Cancer Institute (NCI)
Chronic Kidney Diseases, Alport Syndrome
An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
This extended access study will assess the long-term safety and tolerability of bardoxolone methyl in qualified patients with chronic kidney disease (CKD) who previously participated in one of the qualifying clinical studies with…
- Conditions
- Chronic Kidney Diseases, Alport Syndrome, Autosomal Dominant Polycystic Kidney
- Trial name
- EAGLE (NCT03749447)
- Testing
- Bardoxolone methyl
- Where
- 87 sites in United States, Australia and 4 more
- Volunteers
- 270 people
- Sponsor
- Biogen
Primary Ciliary Dyskinesia
Otolith Function in Patients With Primary Ciliary Dyskinesia
The purpose of this study is to determine whether patients with primary ciliary dyskinesia (PCD) have reduced or absent otolith function.The otolith system is a specific part of the inner ear vestibular (balance) system that…
- Trial name
- NCT01246258
- Testing
- Vestibular evoked myogenic potentials (VEMPs), Utricular centrifugation test
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Imperial College Healthcare NHS Trust