Limb-girdle Muscular DystrophyNCT02635321
MRI and Muscle Involvement in Patients With Mutations in GMPPB
An observational study of Limb-girdle Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Limb-girdle Muscular Dystrophy
- How many people
- 4 participants
- Where
- 1 siteDenmark
- Study dates
- Nov 2015to Apr 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Persons diagnosed with mutations in GMPPB in Denmark and France are invited to the study.
Who may be able to join
- Persons with genetically verified mutations in GMPPB
Who cannot join
- All contraindications for undergoing an MRI scan
Trial locations and contacts
1 site in 1 country.
About this study
Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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.
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.
- Conditions
- Limb-girdle Muscular Dystrophy
- Keywords
- MRI, LGMD, GMPPB
- Medical subject headings
- Muscular Dystrophies, Limb-Girdle
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with LGMD 2T | Four patients over 18 years old with genetically verified LGMD 2T. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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 developed by Mercuri et al. (2007).
Measured: One MRI scan per subject (exam lasts approximately 60 min.)
Secondary outcomes (7)
Muscle biopsy for biochemical investigation
Muscle biopsies from the tibialis anterior muscle and the deltoid muscle will be analyzed for glycosylated α-dystroglycan, merosin and GMPPB. (Concentration determined by standard biochemical analysis).
Measured: One muscle biopsy per subject (last approximately 15 min.)
10 meter walk test
Measurement of the time it takes to walk 10 meters.
Measured: Exam last approximately 5 min.
Neurological examination and test of muscle strength
Muscle strength (in arms and legs) will be examined based on the Medical Research Council (MRC) scale.
Measured: Exam last approximately 15 min.
Questionnaires
Data will be collected using Minimal mental examination (MMSE) and Fatigue Severity Scale (FSS).
Measured: Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.)
Heart examination
Echocardiography and Electrocardiogram (ECG).
Measured: Exam last approximately 45 min
Forced Vital Capacity (FVC)
FVC is measured as the best of three attempts using a hand-held spirometer.
Measured: Exam last approximately 15 min
Electromyography (EMG)
EMG is used for measuring nerve conducting velocity and neuromuscular activity.
Measured: Exam last approximately 30 min
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Dec 2015 (estimated)
- Study startNov 2015
- Primary completionApr 2016
- Study completionApr 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb-girdle Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Sofie Thurø Østergaard, Copenhagen University Hospital, Rigshospitalet
- Investigators
- Sofie T Østergaard, Bsc., Principal investigator, Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02635321
- Sponsor's protocol ID
- STO-GMPPB
- Status last verified
- Apr 2016
- First submitted
- 1 Dec 2015
- Last updated
- 6 Apr 2016
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- MRI and Muscle Involvement in Patients With Mutations in GMPPB
- ClinicalTrials.gov ID
- NCT02635321
- Acronym / sponsor ID
- STO-GMPPB
- Conditions
- Limb-girdle Muscular Dystrophy
- Keywords
- MRI, LGMD, GMPPB
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- Nov 2015
- Primary completion
- Apr 2016 (actual)
- Study completion
- Apr 2016 (actual)
- First posted
- 18 Dec 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with LGMD 2T | – | –Four patients over 18 years old with genetically verified LGMD 2T. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Persons diagnosed with mutations in GMPPB in Denmark and France are invited to the study.
Key inclusion criteria (1 listed)
- Persons with genetically verified mutations in GMPPB
Key exclusion criteria (1 listed)
- All contraindications for undergoing an MRI scan
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
MRI scan for qualitative analysis of muscle involvement
Time frame: One MRI scan per subject (exam lasts approximately 60 min.)
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 developed by Mercuri et al. (2007).
7 secondary outcomes
Muscle biopsy for biochemical investigation
Time frame: One muscle biopsy per subject (last approximately 15 min.)
10 meter walk test
Time frame: Exam last approximately 5 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 LGMD 2T (exam last approximately 45 min.)
Heart examination
Time frame: Exam last approximately 45 min
Forced Vital Capacity (FVC)
Time frame: Exam last approximately 15 min
Electromyography (EMG)
Time frame: Exam last approximately 30 min
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2016.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sofie T Østergaard, Bsc. principal investigator
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Limb-girdle Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Apr 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
MRI scan for qualitative analysis of muscle involvement (time frame: One MRI scan per subject (exam lasts approximately 60 min.)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2016.