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A Study of Multilocus Methylation Abnormalities in Subjects With Imprinting Disorders
Sponsor: Assistance Publique - Hôpitaux de Paris
Summary
Imprinting disorders may be caused by epimutations. Some subjects exhibit methylation abnormalities in several regions subject to imprinting, a condition known as multilocus imprinting disorder (MLID). The prevalence of MLID is unknown, due to variations in the methodologies used (including technique employed and number of regions studied). The phenotypic consequences of MLID are also poorly understood. Studying the methylation of all the imprinted regions would make it possible to determine the prevalence of MLID as well as its clinical consequences.
Key Details
Gender
All
Age Range
6 Months - 70 Years
Study Type
INTERVENTIONAL
Enrollment
96
Start Date
2026-04
Completion Date
2028-10
Last Updated
2026-03-27
Healthy Volunteers
No
Conditions
Interventions
Methylation study
Methylation study by high-throughput sequencing technique after enzymatic DNA treatment and DMR capture
Locations (1)
Molecular Endocrinology and Imprinting disorder department - Trousseau Hospital
Paris, France