MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

• Register: ClinicalTrials.gov
• Last refreshed on: 16 December 2017
• Main ID: NCT02759302
• Date of registration: 27/04/2016
• Prospective Registration: No
• Primary sponsor: Rigshospitalet, Denmark
• Public title: MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
• Scientific title: MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
• Date of first enrolment: April 2016
• Target sample size: 12
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02759302
• Study type: Observational
• Phase: N/A

Countries of recruitment

Denmark

Contacts

• Name: Sofie T. Østergaard, Bsc.
• Affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

Key inclusion & exclusion criteria

Inclusion Criteria:

- Persons with genetically verified mutations in POMT2

Exclusion Criteria:

- All contraindications for undergoing an MRI scan



Age minimum: 18 Years
Age maximum: 100 Years
Gender: All

Health Condition(s) or Problem(s) studied

Limb-girdle Muscular Dystrophy

Primary Outcome(s)

MRI scan for qualitative analysis of muscle involvement [Time Frame: One MRI scan per subject (exam lasts approximately 60 min.)]

Secondary Outcome(s)

Forced Vital Capacity (FVC) [Time Frame: Exam last approximately 15 min]

Neurological examination and test of muscle strength [Time Frame: Exam last approximately 15 min.]

Questionnaires [Time Frame: Data will be collected once for patients with LGMD2N (exam last approximately 45 min.)]

Muscle Biopsy [Time Frame: One muscle biopsy per subject (last approximately 15 min.)]

10 meter walk test [Time Frame: Exam last approximately 5 min]

Electromyography (EMG) [Time Frame: Exam last approximately 30 min]

Heart examination [Time Frame: Exam last approximately 45 min]

Secondary ID(s)

STO-POMT2

Source(s) of Monetary Support

Please refer to primary and secondary sponsors