Clinical trials: Autoimmune Neutropenia
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)
Severe PID With Lymphoproliferation and Neutropenia
The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under…
- Trial name
- DICEP (NCT03427593)
- Testing
- FACS analyses, Target Sequencing by NGS ( Next-generation sequencing), Whole Exome Sequencing
- Where
- France
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France