MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

NCT02759302 | Completed

• 1 other identifier: STO-POMT2
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 1

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.

Conditions

Limb-girdle Muscular Dystrophy

Keywords

MRI; LGMD; POMT2

Outcome Measures

Primary Outcomes (1)

• MRI scan for qualitative analysis of muscle involvement

  The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for qualitative analysis using the grading scale from 1 to 4 developed by Mercuri et al. (2007) to evaluate the involvement of muscles by looking at the fat infiltration.

  One MRI scan per subject (exam lasts approximately 60 min.)

Secondary Outcomes (7)

• Muscle Biopsy

  One muscle biopsy per subject (last approximately 15 min.)

• 10 meter walk test

  Exam last approximately 5 min

• Neurological examination and test of muscle strength

  Exam last approximately 15 min.

• Questionnaires

  Data will be collected once for patients with LGMD2N (exam last approximately 45 min.)

• Heart examination

  Exam last approximately 45 min

Study Arms (1)

Patients with LGMD2N

Five patients over 18 years old with genetically verified LGMD2N

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Persons diagnosed with LGMD2N in Denmark and France are invited to the study.

You may qualify if:

• Persons with genetically verified mutations in POMT2

You may not qualify if:

• All contraindications for undergoing an MRI scan

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (1)

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, DK-2100, Denmark

Location

Related Publications (1)

• Ostergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernandez-Torron R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

  PMID: 29175898 DERIVED

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Sofie T. Østergaard, Bsc.

  Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Scholarship student

Study Record Dates

• First Submitted: April 27, 2016
• First Posted: May 3, 2016
• Study Start: April 1, 2016
• Primary Completion: April 1, 2017
• Study Completion: April 1, 2017
• Last Updated: April 11, 2017

Record last verified: 2017-04

Locations

DK (1)