Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 4:01 AM
Ignite Modification Date:
2025-12-25 @ 4:01 AM
NCT ID:
NCT02759302
Brief Summary:
POMT2 mutation is known to cause Walker Warburg Syndrome and Muscle-Brain-Eye syndrome. Recently it has been connected to limb girdle muscular dystrophy (LGMD), a disorder characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. LGMD with POMT2 mutations is a new phenotype - type 2N. Very few patients with the LGMD2N phenotype has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.
Study:
NCT02759302
Study Brief:
Protocol Section:
NCT02759302