Becker Muscular DystrophyNCT00893334
Evaluation of Limb-Girdle Muscular Dystrophy
An observational study of Becker Muscular Dystrophy and Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), run by Cooperative International Neuromuscular Research Group at 2 sites in United States.
Trial summary
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency)
- How many people
- 60 participants
- Where
- 2 sitesUnited States
- Study dates
- Apr 2009to Dec 2013
- 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
- Healthy volunteers accepted
- Adult, Older adult
Study population: The subject population will include all patients diagnosed LGMD2I, LGMD2A, LGMD2B, and BMD. BMD is an X-linked recessive condition that only affects males. It has been described in all ethnic backgrounds. LGMD2I, LGMD2A and LGMD2B are autosomal recessive conditions affecting both males and females of all ethnic backgrounds equally, both sexes and all ethnicities are expected to be equally represented. Clinical symptoms manifest in the second decade of life, therefore all participants will be over the age of 18. Healthy controls will be recruited to match the study population based on age, sex, and ethnicity.
Who may be able to join
- 18 years of age or older.
- Diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD as determined by muscle biopsy immunohistochemistry, immunoblotting, or molecular analysis.
- Able to travel to study site
- Normal controls will be recruited as either friends of the study participants or through separate recruitment.
Who cannot join
- Unable to travel to study site.
- Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Carolinas Medical Center
Charlotte, North Carolina
Children's National Medical Center
Washington D.C., District of Columbia, 20010
About this study
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.
Read the detailed description
Specific Aims:
Aim 1: Evaluate integrity of the extracellular matrix in patients with LGMD by measuring serum growth factors and cytokines and compare these to a disease control (BMD) and normal volunteers.
Aim 2: Measure growth factors and cytokines following medical evaluation and compare them to the baseline levels.
Aim 3: Discovery Aim for future multicenter clinical trials in LGMD. Aim 3A: Abstract medical records with particular emphasis on age of disease onset, initial clinical symptoms, progression and location of the muscular weakness, treatments attempted, and other medical complications. A review of the diagnostic testing performed will also be conducted.
Aim 3B: Perform complete clinical evaluation including anthropometric measures, evaluation of joint limitations, timed functional testing, muscle strength, pulmonary function, and a cardiac assessment.
Aim 3C: Determine patient understanding of diagnosis of LGMD and genetic testing results. A questionnaire will be generated that addresses the patient's understanding of his/her diagnosis as well as their understanding of genetic concepts of autosomal recessive inheritance, genes, molecular testing and implications for themselves as well as their family.
Aim 3D: Quality of Life (QOL) questionnaires will be administered. These will be used to identify functional limitations by the patients and compare those limitations with the clinical evaluation.
Study Description
Only one visit will be necessary for this study. The study visit includes:
- Review of the informed consent form
- Blood collection Blood will be collected for the following: DNA extraction to confirm genotype if not already performed; Muscle Enzymes before and after physical evaluation; and Growth factors and cytokines: before and after physical evaluation.
- Medical history review
- Physical Examination
- Questionnaires: Participants will complete 3 questionnaires: Diagnosis and genetic testing, ACTIVLIM, and INQoL
- Clinical Evaluator assessment which includes: Manual Muscle Testing, Quantitative Muscle Testing, Pulmonary Function Testing, Anthropometric measurements, and Timed and Functional testing
- Cardiac evaluation will include: Electrocardiogram and Echocardiogram
Control subjects will be required to come to the test site to complete the informed consent process, clinical evaluator assessment, and have blood drawn before and after the clinical evaluator assessment. No other examinations or procedures will be performed on the control participants.
- Conditions
- Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency), Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)
- Keywords
- Duchenne and Becker muscular dystrophy, muscular dystrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Limb-Girdle, Miyoshi myopathy, Muscular Dystrophies
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 |
|---|---|---|
| BMD: | Patients diagnosed with Becker Muscular Dystrophy | |
| LGMD2A | patient diagnosed with Limb-Girdle Muscular Dystrophy, type 2A Calpain-3 deficiency | |
| LGMD2B | Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2B Miyoshi myopathy Dysferlin deficiency | |
| LGMD2I | Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2I FKRP-deficiency | |
| Control | Healthy Controls |
What is being measured
The primary outcome is the main question the study is designed to answer.
The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD.
Measured: 12 months
The difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation.
Measured: 12 months
Secondary outcomes (3)
Evaluation of surrogate and clinically relevant outcome measures in LGMD.
Measured: 24 months
Quality of life questionnaires to correlate patient- perceived limitations in daily activities with the quantitative strength measurements and functional ability with timed testing.
Measured: 24 months
Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2009 (estimated)
- Study startApr 2009
- Primary completionDec 2013
- Study completionDec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Becker Muscular DystrophyStudies of the same condition, open and under way.
- 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-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Cooperative International Neuromuscular Research Group
- Sponsor type
- Research network
- Collaborators
- Carolinas Medical Center lead study site
- Responsible party
- Sponsor
- Investigators
- Carolina Tesi-Rocha, M.D., Principal investigator, Cooperative International Neuromuscular Research GroupSusan Sparks, M.D., Ph.D., Principal investigator, Levine Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00893334
- Sponsor's protocol ID
- IRB#4463
- Other IDs
- MDA Grant: 129066
- Status last verified
- Mar 2014
- First submitted
- 4 May 2009
- Last updated
- 7 Mar 2014
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 7 Mar 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Limb-Girdle Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT00893334
- Acronym / sponsor ID
- IRB#4463
- Conditions
- Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency), Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)
- Keywords
- Duchenne and Becker muscular dystrophy, muscular dystrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Cooperative International Neuromuscular Research GroupResearch network
- Collaborators
- Carolinas Medical Center lead study site
- Study start
- Apr 2009
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2013 (actual)
- First posted
- 6 May 2009 (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.
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.
Detailed description
Specific Aims:
Aim 1: Evaluate integrity of the extracellular matrix in patients with LGMD by measuring serum growth factors and cytokines and compare these to a disease control (BMD) and normal volunteers.
Aim 2: Measure growth factors and cytokines following medical evaluation and compare them to the baseline levels.
Aim 3: Discovery Aim for future multicenter clinical trials in LGMD. Aim 3A: Abstract medical records with particular emphasis on age of disease onset, initial clinical symptoms, progression and location of the muscular weakness, treatments attempted, and other medical complications. A review of the diagnostic testing performed will also be conducted.
Aim 3B: Perform complete clinical evaluation including anthropometric measures, evaluation of joint limitations, timed functional testing, muscle strength, pulmonary function, and a cardiac assessment.
Aim 3C: Determine patient understanding of diagnosis of LGMD and genetic testing results. A questionnaire will be generated that addresses the patient's understanding of his/her diagnosis as well as their understanding of genetic concepts of autosomal recessive inheritance, genes, molecular testing and implications for themselves as well as their family.
Aim 3D: Quality of Life (QOL) questionnaires will be administered. These will be used to identify functional limitations by the patients and compare those limitations with the clinical evaluation.
Study Description
Only one visit will be necessary for this study. The study visit includes:
- Review of the informed consent form
- Blood collection Blood will be collected for the following: DNA extraction to confirm genotype if not already performed; Muscle Enzymes before and after physical evaluation; and Growth factors and cytokines: before and after physical evaluation.
- Medical history review
- Physical Examination
- Questionnaires: Participants will complete 3 questionnaires: Diagnosis and genetic testing, ACTIVLIM, and INQoL
- Clinical Evaluator assessment which includes: Manual Muscle Testing, Quantitative Muscle Testing, Pulmonary Function Testing, Anthropometric measurements, and Timed and Functional testing
- Cardiac evaluation will include: Electrocardiogram and Echocardiogram
Control subjects will be required to come to the test site to complete the informed consent process, clinical evaluator assessment, and have blood drawn before and after the clinical evaluator assessment. No other examinations or procedures will be performed on the control participants.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| BMD: | – | –Patients diagnosed with Becker Muscular Dystrophy |
| LGMD2A | – | –patient diagnosed with Limb-Girdle Muscular Dystrophy, type 2A Calpain-3 deficiency |
| LGMD2B | – | –Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2B Miyoshi myopathy Dysferlin deficiency |
| LGMD2I | – | –Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2I FKRP-deficiency |
| Control | – | –Healthy Controls |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The subject population will include all patients diagnosed LGMD2I, LGMD2A, LGMD2B, and BMD. BMD is an X-linked recessive condition that only affects males. It has been described in all ethnic backgrounds. LGMD2I, LGMD2A and LGMD2B are autosomal recessive conditions affecting both males and females of all ethnic backgrounds equally, both sexes and all ethnicities are expected to be equally represented. Clinical symptoms manifest in the second decade of life, therefore all participants will be over the age of 18. Healthy controls will be recruited to match the study population based on age, sex, and ethnicity.
Key inclusion criteria (4 listed)
- 18 years of age or older.
- Diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD as determined by muscle biopsy immunohistochemistry, immunoblotting, or molecular analysis.
- Able to travel to study site
- Normal controls will be recruited as either friends of the study participants or through separate recruitment.
Key exclusion criteria (2 listed)
- Unable to travel to study site.
- Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.
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
The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD.
Time frame: 12 months
The difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation.
Time frame: 12 months
3 secondary outcomes
Evaluation of surrogate and clinically relevant outcome measures in LGMD.
Time frame: 24 months
Quality of life questionnaires to correlate patient- perceived limitations in daily activities with the quantitative strength measurements and functional ability with timed testing.
Time frame: 24 months
Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis.
Time frame: 24 months
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 7 Mar 2014.
- CINRGLink provided by the sponsor.
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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.
Carolina Tesi-Rocha, M.D. principal investigator
Cooperative International Neuromuscular Research Group
Susan Sparks, M.D., Ph.D. principal investigator
Levine Children's Hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Becker Muscular Dystrophy and Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), run by Cooperative International Neuromuscular Research Group at 2 sites in United States.
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 4 inclusion and 2 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 7 Mar 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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?
The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD. (time frame: 12 months). The study lists 2 primary outcomes in all. 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 7 Mar 2014.