Clinical trials: Ciliopathies, open to volunteers
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
A Study to Investigate the Effects of JMKX003142 on QTc Interval in Healthy Adults
The primary objective of this study is to assess the effect of a therapeutic and supratherapeutic oral dose of JMKX003142 on the corrected cardiac QT interval relative to a placebo in healthy participants
- Trial name
- NCT07470177
- Testing
- JMKX003142 tablets
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Jemincare
Autosomal Dominant Polycystic Kidney Disease
Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD)
This study will investigate if a medication (metformin) widely used in the treatment of diabetes could be re-purposed for the treatment of patients with a diagnosis of early stage ADPKD to slow the rate of kidney function…
- Trial name
- NCT04939935
- Testing
- Metformin XR, Control
- Where
- 49 sites in Australia, New Zealand and 1 more
- Volunteers
- 1,174 people
- Sponsor
- The University of Queensland
Primary Ciliary Dyskinesia, PCD
Clearance in Primary Ciliary Dyskinesia
Understanding mechanisms of mucus clearance from the airways may lead to treatments in muco-obstructive lung conditions. Mucociliary clearance (MCC) scans are a way to measure the rate at which a person's lungs can clear inhaled…
- Trial name
- CLIP (NCT07699302)
- Testing
- Exercise, HS pretreatment with Exercise
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of North Carolina, Chapel Hill
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
This study will analyze the germline and somatic mutations underlying the development of ADPKD in order to better understand the genetic mechanism responsible for the cystic transformation.
- Trial name
- ADPKD (NCT03901521)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Weill Medical College of Cornell University
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Metabolic Impacts of Ren-Nu: A Dietary Program for Polycystic Kidney Disease
This is a 16 week pilot study of the impact of a nutritionist led ketogenic diet (Ren-Nu) supplemented with the medical food KetoCitra on autosomal dominant polycystic kidney disease.
- Trial name
- PKD-KETO (NCT07454174)
- Testing
- Ren-Nu and KetoCitra
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Richard Fatica
Autosomal Dominant Polycystic Kidney
GBP-213 in Patients With Autosomal Dominant Polycystic Kidney Disease
This study will evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of GBP-213 in patients with autosomal dominant polycystic kidney disease (ADPKD).
- Trial name
- NCT07891364
- Testing
- GBP-213
- Where
- China
- Volunteers
- 24 people
- Sponsor
- RenJi Hospital
Bronchiectasis, Cystic Fibrosis
Natural History of Bronchiectasis
Bronchiectasis is a chronic inflammatory and muco-obstructive condition that results in abnormal dilation of the airways, decline in lung function, frequent exacerbations, and chronic respiratory tract infections.
- Conditions
- Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
- Trial name
- NCT00943514
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Von Hippel Lindau, Von Hippel Lindau Disease
Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial
The BELIEVE-VHL Trial is a prospective real-life study designed to evaluate the therapeutic effects, benefits, and adverse effects of belzutifan, as well as the timing of treatment response and disease progression in patients…
- Conditions
- Von Hippel Lindau, Von Hippel Lindau Disease, Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma, Hemangioblastoma (HB) of the Central Nervous System (CNS)
- Trial name
- BELIEVE-VHL (NCT07167329)
- Testing
- Belzutifan
- Where
- Brazil
- Volunteers
- 100 people
- Sponsor
- José Claudio Casali da Rocha
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
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
Age-Related Macular Degeneration, Diabetic Retinopathy
National Eye Institute Biorepository for Retinal Diseases
Background: To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time.
- Conditions
- Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome, Retinal Disease
- Trial name
- NCT01496625
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Polycystic Kidney, Autosomal Dominant
STOP-PKD: SGLT2-inhibition to Improve Prognosis in Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease is the most common genetic cause of kidney failure. The only approved treatment for ADPKD - tolvaptan - is limited in its use by massive therapy-associated polyuria.
- Trial name
- STOP-PKD (NCT07280585)
- Testing
- Dapagliflozin 10 mg
- Where
- 30 sites in Austria, Germany and 2 more
- Volunteers
- 420 people
- Sponsor
- University of Cologne
ADPKD (Autosomal Dominant Polycystic Kidney Disease), Renal Edema
A Study to Investigate the Pharmacokinetics of JMKX003142 in Healthy Participants and Participants With Hepatic Impairment
The primary purpose of this study is to evaluate the plasma PK of JMKX003142 following a single dose in participants with mild and moderate hepatic impairment compared to matched healthy participants with normal hepatic function.
- Trial name
- NCT07909070
- Testing
- JMKX003142
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Jemincare
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Dietary Modulation of Urinary MCP-1 in ADPKD
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst growth and declining kidney function. Inflammatory pathways, including those mediated by monocyte chemoattractant protein-1 (MCP-1), are…
- Trial name
- NCT07651397
- Testing
- Carbohydrate Restricted, Plant Dominant Diet, usual diet
- Volunteers
- 36 people
- Sponsor
- Assaf-Harofeh Medical Center
Autosomal Dominant Polycystic Kidney Disease
ANCHOR Study: A Study to Assess the Safety and Efficacy of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common genetic cause of kidney disease that causes fluid-filled cysts to develop in the kidneys.
- Trial name
- ANCHOR (NCT06902558)
- Testing
- ABBV-CLS-628
- Where
- 91 sites in United States, Australia and 10 more
- Volunteers
- 240 people
- Sponsor
- Calico Life Sciences LLC
Polycystic Kidney Disease
Well-Formulated Ketogenic Diet Polycystic Kidney Disease
This is a prospective study to determine ketogenic diet effect on htTKV, GFR, microalbuminuria. This is a single-center study of 20 patients with ADPKD and deemed high risk for progression to ESRD.
- Trial name
- NCT06325644
- Testing
- Ketogenic Diet, Ketone/Glucose Monitoring, CGM/CKM
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Ohio State University
Primary Ciliary Dyskinesia
Registry Study on Primary Ciliary Dyskinesia in Chinese Children
This study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality…
- Trial name
- NCT02704455
- Volunteers
- 100 people
- Sponsor
- Beijing Children's Hospital
AKI, CKD
Genetics in the Progression of Nephropathies
This study evaluates the role of genetic in the development and progression of different nephropaties with particular attention to: AKI CKD Hypertension ADPKD CKD-MBD Patients with decompensated heart failure undergoing either…
- Conditions
- AKI, CKD, Ckd-Mbd, CKD (Chronic Kidney Disease) Stage 5D
- Trial name
- NCT06416761
- Testing
- genetic polymorphisms
- Where
- Italy
- Volunteers
- 10,000 people
- Sponsor
- Ospedale San Raffaele
Multicystic Dysplastic Kidney, Polycystic Kidney Disease
Amnioinfusion for Fetal Renal Failure
The goal of this clinical trial is to learn if serial amnioinfusions can improve the chances of survival for fetuses with severe kidney problems that cause low amniotic fluid (anhydramnios).
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios
- Trial name
- NCT06728228
- Testing
- Amnioinfusion
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Fetal Care Center, PLLC
Chronic Obstructive Pulmonary Disease, Asthma
A Cohort for Inflammatory Respiratory Diseases: From Phenotyping to Personalised Medicine
Chronic inflammatory pulmonary diseases, including asthma, chronic obstructive pulmonary disease (COPD), bronchiectasis, cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and interstitial lung diseases (ILD) are…
- Conditions
- Chronic Obstructive Pulmonary Disease, Asthma, Bronchiectasis, Cystic Fibrosis
- Trial name
- PALMIRE (NCT07274631)
- Testing
- Non applicable
- Where
- France
- Volunteers
- 470 people, healthy volunteers welcome
- Sponsor
- CHU de Reims