Clinical trials: Somatic Mutation
Hirschsprung Disease
Genetic Mosaicism in Hirschsprung's Disease
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon.
- Trial name
- NCT01927809
- Where
- 2 sites in Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
Urticaria Pigmentosa, Cutaneous Mastocytosis
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell…
- Trial name
- NCT02761473
- Testing
- skin biopsy, blood draw
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France