Genetic DisorderNCT01851447
Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
An observational study of Genetic Disorder, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Read more about this study
- Who is it for?
- Ages 18 to 99 years
- Conditions the study is for
- Genetic Disorder
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Nov 2014to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 to 99 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 11 patients, 18 years or older with early adulthood or later onset of a genetically diagnosed FSMD will be enrolled in this study. We estimate no more than 50 patients to be eligible for enrollment. This pilot study will accept a maximum of 11 patients.
Who may be able to join
- Aged 18 or older
- Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs
- Be able to travel to the NIH Clinical Center at the NIH for studies
- Able to commit to multiple 5 day stays at the NIH Clinical Center
- Established primary care physician
- Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics
Who cannot join
- Fail to meet the above inclusion criteria
- Are unable or unwilling to be examined
- Adults unable to provide their own consent
- Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery)
- Pregnant females
- Currently taking any or a combination of anti-inflammatory drugs, statins or other drugs with known myotoxicity, narcotics
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy
Background:
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition.
Read more
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time.
- Treatment will not be provided as part of this study.
Read the detailed description
Objectives: the aim of this protocol is to identify biomarker and clinical correlates of changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability) before and after routine motor function testing in patients with one of the Fragile Sarcolemmal Muscular Dystrophies (FSMD).
Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM, BMD, and MMD3).
Study Phase: pilot study. Outcome measures: increased change in baseline levels of proteins that are released into the blood from damaged skeletal muscle, such as Creatine Kinase (CK), Lactate Dehydrogenase (LDH), Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), troponins, and myoglobin in plasma, changes in inflammation markers, circulating microRNAs and imaging studies to identify effective biomarkers for use in future clinical trials.
- Conditions
- Genetic Disorder
- Keywords
- Membrane Wound, Inflammatory Cytokines, Exercise, Plasma Membrane Repair, Predictors of Outcome, Natural History
- Medical subject headings
- Genetic Diseases, Inborn, Motor Activity
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 |
|---|---|---|
| Fragile Sarcolemmal Muscular Dystrophy | patients with early adulthood or late onset of a genetic disorder FSMD (LGMD 2B-F, I, L, MM, BMD and MMD3) |
What is being measured
The primary outcome is the main question the study is designed to answer.
changes in biomarker levels
biomarker levels (CK, ALT, AST...) increases
Measured: early in the morning, before and after morning activities
changes in biomarker levels
biomarker levels (CK, ALT, AST...) increase
Measured: after physical exercise, strength test under guidance of physical therapist
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 May 2013 (estimated)
- Study start3 Nov 2014
- Primary completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DisorderStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health Clinical Center (CC), University of Massachusetts, Worcester
- Responsible party
- Sponsor
- Investigators
- Joshua J Zimmerberg, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01851447
- Sponsor's protocol ID
- 130112
- Other IDs
- 13-CH-0112
- Status last verified
- 25 Jun 2026
- First submitted
- 9 May 2013
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT01851447
- Acronym / sponsor ID
- 130112
- Conditions
- Genetic Disorder
- Keywords
- Membrane Wound, Inflammatory Cytokines, Exercise, Plasma Membrane Repair, Predictors of Outcome, Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health Clinical Center (CC), University of Massachusetts, Worcester
- Study start
- 3 Nov 2014 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- First posted
- 10 May 2013 (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.
Background:
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition.
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time.
- Treatment will not be provided as part of this study.
Detailed description
Objectives: the aim of this protocol is to identify biomarker and clinical correlates of changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability) before and after routine motor function testing in patients with one of the Fragile Sarcolemmal Muscular Dystrophies (FSMD).
Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM, BMD, and MMD3).
Study Phase: pilot study. Outcome measures: increased change in baseline levels of proteins that are released into the blood from damaged skeletal muscle, such as Creatine Kinase (CK), Lactate Dehydrogenase (LDH), Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), troponins, and myoglobin in plasma, changes in inflammation markers, circulating microRNAs and imaging studies to identify effective biomarkers for use in future clinical trials.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fragile Sarcolemmal Muscular Dystrophy | – | –patients with early adulthood or late onset of a genetic disorder FSMD (LGMD 2B-F, I, L, MM, BMD and MMD3) |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 11 patients, 18 years or older with early adulthood or later onset of a genetically diagnosed FSMD will be enrolled in this study. We estimate no more than 50 patients to be eligible for enrollment. This pilot study will accept a maximum of 11 patients.
Key inclusion criteria (6 listed)
- Aged 18 or older
- Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs
- Be able to travel to the NIH Clinical Center at the NIH for studies
- Able to commit to multiple 5 day stays at the NIH Clinical Center
- Established primary care physician
Key exclusion criteria (6 listed)
- Fail to meet the above inclusion criteria
- Are unable or unwilling to be examined
- Adults unable to provide their own consent
- Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery)
- Pregnant females
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
changes in biomarker levels
Time frame: early in the morning, before and after morning activities
biomarker levels (CK, ALT, AST...) increases
changes in biomarker levels
Time frame: after physical exercise, strength test under guidance of physical therapist
biomarker levels (CK, ALT, AST...) increase
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Genetic Disorder
Active, not recruitingPhase 1/2
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
Recruiting
Methylation Profiling in Self-Samples for Identification of (Epi)Genetic Biomarkers for Gynecological Cancers
Gynaecological Cancers, Ovarian Cancer
Not yet recruitingPhase 1
A Phase I Study of GLR2053 Tablets in Chinese Healthy Adult Participants
Atopic Dermatitis
RecruitingPhase 1/2
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
X-linked Hypophosphatemia
RecruitingObservational study
Blood, Urine, and Tissue Collection for Cutaneous Lymphoma, Eczema, and Atopic Dermatitis Research
Cutaneous T-cell Lymphoma, Sezary Syndrome
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.
Joshua J Zimmerberg, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 Genetic Disorder, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site 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 6 inclusion and 6 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: under way, not looking for participants, as of the sponsor's last update on 26 Oct 2026. 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 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?
This study is still under way. Results are not available in the source record yet.
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?
changes in biomarker levels (time frame: early in the morning, before and after morning activities). 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 26 Oct 2026.