Myotonic Muscular DystrophyNCT00004769
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
An observational study of Myotonic Muscular Dystrophy, run by University of Rochester.
Trial summary
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients. IV. Read more about this study
- Who is it for?
- Ages 21 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Myotonic Muscular Dystrophy
- How many people
- 130 participants
- Where
- No sites listed yet
- Study dates
- Dec 1993to Mar 2000
- 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 21 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: National sample
Who may be able to join
- Clinically mild or moderate myotonic dystrophy (DM), proximal myotonic myopathy (PROMM), facioscapulohumeral muscular dystrophy (FSH) or, Charcot-Marie-Tooth (CMT)
- Mild or moderate DM defined as: Mild muscle weakness in the limbs, modest facial weakness, and mild grip myotonia; Moderate muscle weakness in the limbs, typical DM facies, and prominent grip myotonia
Who cannot join
- Prior or concurrent therapy
- Obese
- Concurrent acute illness
About this study
Official title: Myotonic Dystrophy:Muscle Wasting and Altered Metabolism
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM.
II. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients.
IV. Determine the stability of the DM gene lesion in muscles over a 5-10 year period.
Read the detailed description
PROTOCOL OUTLINE: Patients are placed on a meatless diet 3 days prior to study entry.
During the first 5-day hospital stay, patients receive an oral glucose tolerance test, an intravenous glucose tolerance test, and an intravenous infusion of insulin and glucose (dextrose) to determine the degree of insulin resistance. Patients also receive dual x-ray absorptiometry (DEXA) scan and total body potassium count to measure muscle mass. Patients undergo strength testing and physical fitness screening. A needle biopsy is performed to investigate the genetic alterations associated with this disease.
During the second 3-day hospital stay, patients receive an intravenous infusion of insulin, stable isotopic glucose, and stable isotopic glycerol.
During the third 3-day hospital stay, a catheter is placed in the femoral artery, femoral vein, and in each arm. Patients receive an infusion of stable isotopic glucose, stable isotopic phenylalanine, and insulin. Measurements of the balance of amino acids and glucose across the forearm and leg are completed. Green dye is infused to measure blood flow in the leg.
- Conditions
- Myotonic Muscular Dystrophy
- Keywords
- Genetic diseases, Myotonic muscular dystrophy, Facioscapulohumeral muscular dystrophy, CMT, Rare disease
- Medical subject headings
- Myotonic Dystrophy, Genetic Diseases, Inborn, Muscular Dystrophy, Facioscapulohumeral, Rare Diseases
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 |
|---|---|---|
| Myotonic dystrophy | Subjects with myotonic dystrophy | |
| Healthy controls | Healthy subjects | |
| Disease controls 1 | Subjects with FSHD | |
| Disease controls 2 | Subjects with CMT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantitative myometry (QMT)
Measured: Visit 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2000 (estimated)
- Study startDec 1993
- Primary completionMar 2000
- Study completionMar 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by University of RochesterThe 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-control
- Time perspective
- Prospective
- Enrolment
- 130 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Richard T Moxley, University of Rochester
- Investigators
- Richard T. Moxley, III, Study chair, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004769
- Sponsor's protocol ID
- 199/11770
- Other IDs
- URMC-583, URMC-445
- Status last verified
- Jan 2013
- First submitted
- 24 Feb 2000
- Last updated
- 28 Jan 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jan 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Myotonic Dystrophy:Muscle Wasting and Altered Metabolism
- ClinicalTrials.gov ID
- NCT00004769
- Acronym / sponsor ID
- 199/11770
- Conditions
- Myotonic Muscular Dystrophy
- Keywords
- Genetic diseases, Myotonic muscular dystrophy, Facioscapulohumeral muscular dystrophy, CMT, Rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 130 participants (actual)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Study start
- Dec 1993
- Primary completion
- Mar 2000 (actual)
- Study completion
- Mar 2000 (actual)
- First posted
- 25 Feb 2000 (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.
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM.
II. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients.
IV. Determine the stability of the DM gene lesion in muscles over a 5-10 year period.
Detailed description
PROTOCOL OUTLINE: Patients are placed on a meatless diet 3 days prior to study entry.
During the first 5-day hospital stay, patients receive an oral glucose tolerance test, an intravenous glucose tolerance test, and an intravenous infusion of insulin and glucose (dextrose) to determine the degree of insulin resistance. Patients also receive dual x-ray absorptiometry (DEXA) scan and total body potassium count to measure muscle mass. Patients undergo strength testing and physical fitness screening. A needle biopsy is performed to investigate the genetic alterations associated with this disease.
During the second 3-day hospital stay, patients receive an intravenous infusion of insulin, stable isotopic glucose, and stable isotopic glycerol.
During the third 3-day hospital stay, a catheter is placed in the femoral artery, femoral vein, and in each arm. Patients receive an infusion of stable isotopic glucose, stable isotopic phenylalanine, and insulin. Measurements of the balance of amino acids and glucose across the forearm and leg are completed. Green dye is infused to measure blood flow in the leg.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Myotonic dystrophy | – | –Subjects with myotonic dystrophy |
| Healthy controls | – | –Healthy subjects |
| Disease controls 1 | – | –Subjects with FSHD |
| Disease controls 2 | – | –Subjects with CMT |
Who may qualify
- Ages
- 21 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- National sample
Key inclusion criteria (2 listed)
- Clinically mild or moderate myotonic dystrophy (DM), proximal myotonic myopathy (PROMM), facioscapulohumeral muscular dystrophy (FSH) or, Charcot-Marie-Tooth (CMT)
- Mild or moderate DM defined as: Mild muscle weakness in the limbs, modest facial weakness, and mild grip myotonia; Moderate muscle weakness in the limbs, typical DM facies, and prominent grip myotonia
Key exclusion criteria (3 listed)
- Prior or concurrent therapy
- Obese
- Concurrent acute illness
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
Quantitative myometry (QMT)
Time frame: Visit 1
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 28 Jan 2013.
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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.
Richard T. Moxley, III study chair
University of Rochester
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Muscular Dystrophy, run by University of Rochester.
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 2 inclusion and 3 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 28 Jan 2013. Status can change between updates, so confirm with the study contact before making plans.
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?
Quantitative myometry (QMT) (time frame: Visit 1). 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 28 Jan 2013.