Clinical trials: Jeune Syndrome
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
Asphyxiating Thoracic Dystrophy
Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
The aim of the project is to prospectively analyze at a clinical and molecular level a series of 50 asphyxiating thoracic dysplasia (ATD) patients and 20 fetuses to further define the natural history of the disorder and to…
- Trial name
- DTJ (NCT00948376)
- Testing
- IFT80 screening
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris