Ignite Creation Date:
2025-12-25 @ 4:01 AM
Ignite Modification Date:
2026-03-02 @ 11:04 PM
Study NCT ID:
NCT02759302
Status:
COMPLETED
Last Update Posted:
2017-04-11
First Post:
2016-04-27
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
Sponsor:
Rigshospitalet, Denmark
Organization:
Study Overview
Official Title:
MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
Status:
COMPLETED
Status Verified Date:
2017-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?: