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Monogenic Diseases
Clinical trial pipeline · Data from ClinicalTrials.gov
See which Monogenic Diseases trials you may qualify forClinical trial pipeline · Data from ClinicalTrials.gov
See which Monogenic Diseases trials you may qualify forThis trial aims to evaluate the prevalence of idiopathic short stature among children whose growth is above -2,5SD (AFPA- CRESS/Inserm -CompuGroup Medical 2018…
The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasiv…
Evaluating a novel, allosteric glucokinase activator in monogenic diabetes secondary to inactivating glucokinase mutations: a randomised, cross-over trial
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone d…
This observational study aims to establish a digital registry, screening platform for patients with monogenic diabetes using internet-based and mobile applicati…
This study evaluates the efficacy of sequential transplantation of umbilical cord blood stem cells and islet cells in children with monogenic immunodeficiency t…
Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relati…
This cross-sectional study aims to further subdivide diabetes mellitus into more homogeneous subgroups by focusing on extreme glucose metabolism phenotypes, inc…
Alport syndrome (AS) is one of the most common monogenic kidney disorders, oftentimes leading to end-stage kidney disease (ESKD). As AS is caused by variants in…