U.S., Feb. 8 -- ClinicalTrials.gov registry received information related to the study (NCT06813469) titled 'Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome' on Nov. 28, 2024.
Brief Summary: MD-RING will explore the hypothesis that position effects and TAD alterations act as an unprecedented pathomechanism in r(14)S. This will contribute to a better understanding of genotype-to-phenotype correlations, creating an important scientific resource for the study of this and other ring syndromes, with the ultimate objective to offer improved family counseling , patient care and to identify potential new therapeutic options.
Study Start Date: Dec. 15, 2023
Study Type: INTERVENTIONAL
Condition:
Ring 14
Intervention:
GENETIC...