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Clinical trial

Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome

NCT06111950 is registered in ClinicalTrials.gov with Hospices Civils de Lyon as lead sponsor.

NCT NCT06111950
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Registry record

As filed in ClinicalTrials.gov.

Title
Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome
Lead sponsor
Hospices Civils de Lyon
Phase
Not applicable
Overall status
Recruiting
Start date
August 27, 2024
Completion date
August 27, 2029
Enrollment
45 (estimated)
Sites
6

Conditions

As the registry lists them; a condition with its own page is linked.

lowry wood syndrome, microcephalic osteodysplastic primordial dwarfism types i and iii, roifman syndrome, taybi linder syndrome