Myotonic Dystrophy Type 1NCT07912983
Metabolomic Biomarkers of Myotonic Dystrophy
An observational study of Myotonic Dystrophy Type 1, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. Read more about this study
- Who is it for?
- Ages 14 years and olderHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy Type 1
- How many people
- 64 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Oct 2026to Aug 2031
- 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 14 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with myotonic dystrophy Individuals without myotonic dystrophy
Who may be able to join
- Individuals with myotonic dystrophy
- Individuals without myotonic dystrophy
- Ages 14 years and older
Who cannot join
- State of immunosuppression
- Coagulopathy
- Use of anticoagulants within 60 days prior to blood draw
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Tamkin Shahraki, MD, 617-726-7506, tshahraki@mgh.harvard.edu
About this study
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of myotonic dystrophy by examining a urine sample and a blood sample, and performing muscle function testing. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human myotonic dystrophy.
- Conditions
- Myotonic Dystrophy Type 1
- Keywords
- myotonic dystrophy, extracellular vesicles, metabolites, biomarkers, metabolomics, multi-omics
- Medical subject headings
- Myotonic Dystrophy
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 | Not described | |
| Unaffected | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Extracellular vesicle metabolite profile
The extracellular vesicle metabolite profile in the myotonic dystrophy group will be evaluated and compared with the extracellular vesicle metabolite profile in the control group. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity.
Measured: Five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2026
- Study start26 Oct 2026
- Primary completionAug 2030 (estimated)
- Study completionAug 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy Type 1Studies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 64 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Thurman Wheeler, M.D, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07912983
- Sponsor's protocol ID
- 2026A001627
- Other IDs
- R01FD008236, 2026A
- Status last verified
- Nov 2026
- First submitted
- 27 Oct 2026
- Last updated
- 3 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.
PubMed 31211175Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.
PubMed 30254196Kumari P, Sullivan LM, Li Z, Parker Conquest E, Cornforth E, Jayakumar R, Hu N, Alexander Sizemore J, McKee BB, Kitchen RR, Gonzalez-Perez P, Linville C, Castro K, Gutierrez H, Samaan S, Townsend EL, Darras BT, Rutkove SB, Iannaccone ST, Clemens PR, Puwanant A, Das S, Wheeler TM. Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1. Nat Commun. 2025 Mar 5;16(1):2158. doi: 10.1038/s41467-025-56479-5.
PubMed 40044661
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolomic Biomarkers of Myotonic Dystrophy
- ClinicalTrials.gov ID
- NCT07912983
- Acronym / sponsor ID
- 2026A001627
- Conditions
- Myotonic Dystrophy Type 1
- Keywords
- myotonic dystrophy, extracellular vesicles, metabolites, biomarkers, metabolomics, multi-omics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 64 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- 26 Oct 2026 (actual)
- Primary completion
- Aug 2030 (estimated)
- Study completion
- Aug 2031 (estimated)
- First posted
- 3 Nov 2026 (actual)
- 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.
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of myotonic dystrophy by examining a urine sample and a blood sample, and performing muscle function testing. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human myotonic dystrophy.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Myotonic dystrophy | – | – |
| Unaffected | – | – |
Who may qualify
- Ages
- 14 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with myotonic dystrophy Individuals without myotonic dystrophy
Key inclusion criteria (3 listed)
- Individuals with myotonic dystrophy
- Individuals without myotonic dystrophy
- Ages 14 years and older
Key exclusion criteria (3 listed)
- State of immunosuppression
- Coagulopathy
- Use of anticoagulants within 60 days prior to blood draw
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
Extracellular vesicle metabolite profile
Time frame: Five years
The extracellular vesicle metabolite profile in the myotonic dystrophy group will be evaluated and compared with the extracellular vesicle metabolite profile in the control group. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity.
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 3 Nov 2026.
- Background: PubMed 31211175Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.
- Background: PubMed 30254196Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.
- Background: PubMed 40044661Kumari P, Sullivan LM, Li Z, Parker Conquest E, Cornforth E, Jayakumar R, Hu N, Alexander Sizemore J, McKee BB, Kitchen RR, Gonzalez-Perez P, Linville C, Castro K, Gutierrez H, Samaan S, Townsend EL, Darras BT, Rutkove SB, Iannaccone ST, Clemens PR, Puwanant A, Das S, Wheeler TM. Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1. Nat Commun. 2025 Mar 5;16(1):2158. doi: 10.1038/s41467-025-56479-5.
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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.
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 Myotonic Dystrophy Type 1, run by Massachusetts General Hospital 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 3 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: looking for participants now, as of the sponsor's last update on 3 Nov 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?
Contact Tamkin Shahraki, MD (617-726-7506, tshahraki@mgh.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Extracellular vesicle metabolite profile (time frame: Five years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07912983, which also lists 3 linked publications.
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 3 Nov 2026.