Clinical trials: Ciliopathies
Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.
- Conditions
- Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy
- Trial name
- ANTHEM (NCT05996731)
- Testing
- Skin biopsy
- Where
- Italy
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Autosomal Dominant Polycystic Kidney Disease
Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease
The Division of Kidney Urology and Hematology Disease (DKUHD) of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) funded a cooperative agreement (UO1) for a consortium of participating clinical centers…
- Trial name
- CRISP II (NCT01039987)
- Where
- 5 sites in United States
- Volunteers
- 211 people
- Sponsor
- University of Pittsburgh
Primary Ciliary Dyskinesia, Caries,Dental
Assessment of Oral Health Status of Children With Primary Ciliary Dyskinesia
The aim of this study is to compare the oral health findings, salivary parameters and pediatric oral health related quality of life of children with Primary Ciliary Dyskinesia (PCD) with healthy children
- Conditions
- Primary Ciliary Dyskinesia, Caries,Dental, Quality of Life, Saliva Altered
- Trial name
- NCT06618209
- Testing
- physical and chemical methods, biochemical methods, Oral Findings
- Where
- Turkey (Türkiye)
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Marmara University
Primary Ciliary Dyskinesia, Kartagener Syndrome
Genetics of Primary Ciliary Dyskinesia
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD).
- Trial name
- NCT02389049
- Where
- 8 sites in United States, Canada
- Volunteers
- 320 people
- Sponsor
- University of North Carolina, Chapel Hill
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
Primary Ciliary Dyskinesia (PCD)
Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia
The prevalence and causes of malnutrition and sarcopenia in children and adolescents with Primary ciliary dyskinesia (PCD) have not been sufficiently elucidated.
- Trial name
- Malnutrition (NCT07740538)
- Testing
- Physical assessments of individuals
- Where
- Turkey (Türkiye)
- Volunteers
- 15 people
- Sponsor
- Izmir Democracy University
Polycystic Kidney Diseases
ADPKD Patient Registry
The purpose of the ADPKD Registry is to create an online patient network that includes at least 5,000 people with Autosomal Dominant Polycystic Kidney Disease (ADPKD) who contribute data on their health and other topics.
- Trial name
- ADPKD (NCT04039061)
- Where
- United States
- Volunteers
- 3,000 people
- Sponsor
- PKD Foundation
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
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
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
Ciliopathy
Clinical and Molecular Investigations Into Ciliopathies
This study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the…
- Trial name
- NCT00068224
- Where
- United States
- Volunteers
- 374 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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.
Autosomal Dominant Polycystic Kidney Disease
ADPKD Cohort Study
The purpose of this study is to find out if radiology tests of the kidneys as opposed to glomerular filtration (GFR) tests (GFR test - a lab test that measures kidney function) follow progression of polycystic kidney disease…
- Trial name
- NCT02084849
- Where
- United States
- Volunteers
- 624 people
- Sponsor
- Emory University
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)
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
Ciliary Motility Disorders, Primary Ciliary Dyskinesia
Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia
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
- nNO_PCD (NCT04949308)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- University Hospital Muenster
Primary Ciliary Dyskinesia (PCD), Cystic Fibrosis (CF)
Clean Air for Rare MUcociliary Clearance dIsorders
The goal of this clinical trial is to learn whether using a high efficiency particulate air (HEPA) air purifier can improve respiratory health in children and adults with Cystic Fibrosis (CF) or Primary Ciliary Dyskinesia (PCD).
- Trial name
- CARMUCI (NCT07417267)
- Testing
- Intervention configuration - air purifiers equipped with HEPA and three other filters for efficient particle filtration
- Where
- Cyprus
- Volunteers
- 62 people
- Sponsor
- University of Cyprus
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Chronic Suppurative Lung Disease, Protracted Bacterial Bronchitis
Digital Physiotherapy for Pediatric Chronic Suppurative Lung Diseases
This is a prospective, single-center, two-arm (1:1), assessor-blinded, randomized controlled clinical trial that will be conducted in collaboration with the outpatient clinic of the third Pediatric Pulmonology Unit, "Attikon"…
- Conditions
- Chronic Suppurative Lung Disease, Protracted Bacterial Bronchitis, Primary Ciliary Dyskinesia (PCD), Non Cystic Fibrosis Bronchiectasis
- Trial name
- NCT07376187
- Testing
- Videoconferencing (Vsee platform), Specially designed website (FysΑΩ)
- Where
- Greece
- Volunteers
- 32 people
- Sponsor
- University of Thessaly
Polycystic Kidney
Lixivaptan in a Single Subject With Intractable Pain Due to Polycystic Kidney Disease
Abdominal pain, sometimes severe, is a known symptom of polycystic kidney disease (PKD) related to the cystic expansion. This study will investigate whether the vasopressin V2 receptor antagonist lixivaptan can alleviate…
- Trial name
- NCT03717181
- Testing
- Lixivaptan
- Where
- United States
- Sponsor
- Palladio Biosciences