Clinical trials: Ciliopathies
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Autosomal Recessive Polycystic Kidney Disease
Imaging Assessments of ARPKD Kidney Disease Progression
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments.
- Trial name
- IMAGE-ARPKD (NCT07201025)
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
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 (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
Joubert Syndrome, Cerebello-oculo-renal Syndromes
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Primary objective: assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: assessment of the prevalence of CEP290 mutations and NPHP1 homozygous…
- Trial name
- JSCORS (NCT00873678)
- Testing
- Whole blood sample
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris