MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

NCT ID: NCT02759302

Last Updated: 2017-04-11

Study Results

Results pending

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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Recruitment Status

COMPLETED

Total Enrollment

12 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-04-30

Study Completion Date

2017-04-30

Brief Summary

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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

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Conditions

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Limb-girdle Muscular Dystrophy

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with LGMD2N

Five patients over 18 years old with genetically verified LGMD2N

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Persons with genetically verified mutations in POMT2

Exclusion Criteria

* All contraindications for undergoing an MRI scan
Minimum Eligible Age

18 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rigshospitalet, Denmark

OTHER

Sponsor Role lead

Responsible Party

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Sofie Thurø Østergaard

Scholarship student

Responsibility Role PRINCIPAL_INVESTIGATOR

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, Rigshospitalet

Copenhagen, , Denmark

Site Status

Countries

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Denmark

References

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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.

Reference Type DERIVED
PMID: 29175898 (View on PubMed)

Other Identifiers

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STO-POMT2

Identifier Type: -

Identifier Source: org_study_id

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