MRI and Muscle Involvement in Patients With Mutations in GMPPB
NCT ID: NCT02635321
Last Updated: 2016-04-06
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
4 participants
OBSERVATIONAL
2015-11-30
2016-04-30
Brief Summary
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A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB 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.
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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Patients with LGMD 2T
Four patients over 18 years old with genetically verified LGMD 2T.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
ALL
No
Sponsors
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Rigshospitalet, Denmark
OTHER
Responsible Party
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Sofie Thurø Østergaard
Bachelor of Science
Principal Investigators
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Sofie T Østergaard, Bsc.
Role: PRINCIPAL_INVESTIGATOR
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University
Locations
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Copenhagen Neuromuscular Center
Copenhagen, Copenhagen, Denmark
Countries
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Other Identifiers
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STO-GMPPB
Identifier Type: -
Identifier Source: org_study_id
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