Found 14 clinical trials
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function …
- 0 views
- 05 Aug, 2020
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. …
- 0 views
- 16 Feb, 2024
- 1 location
MPA AUC Monitoring in Patients Receiving MMF for Diffuse Cutaneous or Pulmonary Involvement in Systemic Sclerosis
To define a target value of AUC MPA to improve the modified Rodnan score and / or respiratory impairment (DLCO or FVC) at one year in patients receiving MMF for the treatment of diffuse cutaneous or interstitial lung damage of systemic sclerosis.
- 0 views
- 16 Feb, 2024
- 1 location
Drug Management of Juvenile Idiopathic Arthritis in Covid-19 Context : Impact on Therapeutical Managment
Patients are treated by several classes of immunomodulatory drugs, including non-steroidal anti-inflammatory drugs, corticosteroids and disease modifying anti-rheumatic drugs. The present study will characterize this issue by defining the proportion of patients whose usual treatment of Juvenile Idiopathic Arthritis has been modified in relation to the actual sanitary crisis, and …
- 0 views
- 16 Feb, 2024
- 8 locations
- 1
- 2