Clinical trials: Ciliopathies
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
Polycystic Kidney Disease
Early PKD Observational Cohort Study
This observational study will collect blood and urine and clinical information from individuals with early-stages of polycystic kidney disease (PKD), their unaffected siblings and normal volunteers to create a biobank, also…
- Trial name
- EPOC (NCT02936791)
- Where
- 3 sites in United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC)
18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors
The goal of this clinical trial is to evaluate the diagnostic value of CAIX protein specific probe 18F-T2 in PET/CT imaging in participants with solid tumors.
- Conditions
- Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC), Colorectal Cancer, Cervical Cancer
- Trial name
- NCT07557225
- Testing
- 18F-T2 PET/CT
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
Primary Ciliary Dyskinesia, Kartagener Syndrome
Physical Fitness, Exercise Capacity and Activities of Daily Living in Primary Ciliary Dyskinesia: a Retrospective Study
Decreased pulmonary function, peripheral muscle strength, and exercise capacity were reported in primary ciliary dyskinesia (PCD) in recent studies.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome, Immotile Cilia Syndrome
- Trial name
- NCT05040607
- Testing
- Data Collection
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Kidney Disease
A Study to Evaluate the Safety, Tolerability, and Effects on Blood and Urine Markers of Single Ascending Dose of GSK4771261 in Healthy Participants and Participants With Autosomal Dominant Polycystic Kidney Disease
This is a study where a new drug, called GSK4771261 is being tested. Neither the study doctors, study staff or participants will be aware of what treatment is being given.
- Trial name
- NCT06734234
- Testing
- GSK4771261
- Where
- 23 sites in United States, Belgium and 6 more
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
ADPKD
Genetic Testing in Autosomal Dominant Polycystic Kidney Disease
Individuals with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) often have a family history of the condition although up to 10-15% of cases are sporadic mutations.
- Trial name
- NCT06085807
- Testing
- Survey
- Where
- United States
- Volunteers
- 226 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Drug-Drug Interaction of JMKX003142 With Amiodarone and Febuxostat in Healthy Subjects
This is a open-label, non-randomized, multiple oral dosings, three-period, drug-drug interaction study of JMKX003142 tablet, Amiodarone Hydrochloride Tablets and Febuxostat Tablets in Chinese healthy adult subjects
- Trial name
- NCT07181265
- Testing
- Amiodarone Hydrochloride Tablets, Febuxostat Tablets
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Jemincare
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
Drug-Drug Interactions of JMKX003142 in Healthy Participants
This is a single-center, non-randomized, open-label, self-controlled, Phase I clinical trial to evaluate the drug-drug interactions (DDI) of JMKX003142 tablets in healthy adult participants.
- Trial name
- NCT07565441
- Testing
- JMKX003142 tablets, Fluconazole Capsules, Cocktail Substrates (Midazolam Oral Solution, Rosuvastatin Calcium Tablets, and Digoxin Tablets)
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Jemincare
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
A Phase 1 Study to Evaluate Safety, Tolerability, and Pharmacokinetics of VX-407 in Healthy Participants
The purpose of the study is to evaluate the safety, tolerability, and pharmacokinetic parameters of VX-407 in healthy participants.
- Trial name
- NCT06345755
- Testing
- VX-407, Midazolam
- Where
- 2 sites in United States, Canada
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Primary Ciliary Dyskinesia, Cystic Fibrosis
Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.
- Trial name
- NCT04161313
- Testing
- Measurement of functional capacity, pulmonary function test, Functional capacity
- Where
- Turkey (Türkiye)
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
Mass Balance and Absolute Bioavailability Study of JMKX003142 In Healthy Volunteers
A phase 1 healthy volunteer study to assess the excretion and metabolism as well as the absolute bioavailability of oral JMKX003142.
- Trial name
- NCT07463053
- Testing
- [14C]JMKX003142, JMKX003142 tablets, [14C]JMKX003142 solution for infusion
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Jemincare
Primary Ciliary Dyskinesia
Physiological Responses to Exercise Tests in Primary Ciliary Dyskinesia Compared With Healthy Individuals
The individuals with primary ciliary dyskinesia (PCD) have lower aerobic fitness and anaerobic performance than healthy individuals.
- Trial name
- NCT05712798
- Testing
- No intervention
- Where
- Turkey (Türkiye)
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Cystic Fibrosis, COPD
High Resolution Micro OCT Imaging
The purpose of this study is to learn about using the imaging to make images of the lungs and nose with the long-term goal of the research leading to potential treatments and new therapies for patients with cystic fibrosis.
- Conditions
- Cystic Fibrosis, COPD, PCD - Primary Ciliary Dyskinesia, Covid19
- Trial name
- NCT03256773
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
A Phase 1 Study Evaluating Safety, Tolerability, and Pharmacokinetics of VX-407 in Healthy Participants
The purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of VX-407 in healthy participants.
- Trial name
- NCT07022119
- Testing
- VX-407
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Effects of VX-407 on the Pharmacokinetics of Combined Oral Contraceptives
The purpose of the study is to evaluate the pharmacokinetic effects and safety and tolerability of VX-407 when coadministered with oral contraceptives.
- Trial name
- NCT07792408
- Testing
- VX-407, LNG/EE, NGM/EE
- Where
- Canada
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Polycystic Kidney, Autosomal Dominant
The Role of Endothelial Dysfunction in Adult Polycystic Kidney Disease
This pilot study will compare endothelial function in patients with ADPKD with matched healthy volunteers and normotensive chronic kidney disease stage 1 \& 2 patients.
- Trial name
- NCT04023214
- Testing
- Peripheral (digital) arterial tonometry
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Sheffield Teaching Hospitals NHS Foundation Trust
Cystic Fibrosis, Primary Ciliary Dyskinesia
Multiple Breath Washout, a Clinimetric Dataset
Monitoring patients with chronic, inflammatory airways disease particularly in the early stages is hampered by the relative insensitivity of current outcome measures to detect subtle changes.
- Conditions
- Cystic Fibrosis, Primary Ciliary Dyskinesia, Bronchiectasis, Asthma
- Trial name
- NCT03320382
- Testing
- Multiple breath washout testing
- Where
- United Kingdom
- Volunteers
- 530 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Kartagener Syndrome
Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect…
- Trial name
- NCT00807482
- Where
- United States
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
ADPKD, Autosomal Dominant Polycystic Kidney Disease
ADPKD Alterations in Hepatic Transporter Function
This is a single center, comparative cohort study to investigate alterations in hepatic transporter function in subjects with autosomal dominant polycystic kidney disease (ADPKD) compared to healthy subjects and subjects with…
- Conditions
- ADPKD, Autosomal Dominant Polycystic Kidney Disease, Renal Disease
- Trial name
- NCT03717883
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill