Myotonic Dystrophy Type 1 (DM1)NCT06979024
A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
An observational study of Myotonic Dystrophy Type 1 (DM1), run by First Affiliated Hospital of Fujian Medical University at 1 site in China.
Trial summary
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy.There is little phenotype and genetic data for Chinese DM1 patients. The data to be collected is intended to fill this gap and provide complementary data Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy Type 1 (DM1)
- What is being tested?
- Triplet-primed PCR or Long-read sequencing
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- Jan 2008to Dec 2038
- How long will I take part?
- 5 Years
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: All genetically-confirmed DM1 patients from families (with at least 1 affected member) in China, irrespective of age. The CTG repeats presented at least 50 repeats in DMPK gene, the diagnosis of which was performed at Fujian Neuromedical Center (FNMC), the clinical genetic test hospital for DM1 in China to employ triplet-primed PCR or long-read sequencing technology.
Who may be able to join
- Male or female subjects of all ages at baseline
- Subjects, with or without symptoms, with DM1 genetic confirmation through triplet-primed PCR or long-read sequencing
- Unrelated healthy controls
Who cannot join
- Decline to participate
- Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Oculopharyngodistal Myopathy)
- Serious systemic illness (such as heart, liver, kidney disease or major mental illness)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
First Affiliated Hospital of Fujian Medical University
Fuzhou, Fujian, 350005
About this study
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy.There is little phenotype and genetic data for Chinese DM1 patients. The data to be collected is intended to fill this gap and provide complementary data
Read the detailed description
Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. The China DM1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed DM1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, the data to be collected is intended to fill this gap and provide complementary data.
- Conditions
- Myotonic Dystrophy Type 1 (DM1)
- Being tested
- Triplet-primed PCR or Long-read sequencing
- Keywords
- Myotonic Dystrophy Type 1, Tandem repeat
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Triplet-primed PCR or Long-read sequencingGenetic
This study involves long-read sequencing in patients with Myotonic Dystrophy Type 1 (DM1) to identify specific motifs, determine the range of repeat numbers, and assess the presence of interruptions in the CTG repeat sequence. The aim is to gain insights into the genetic variability and its clinical implications in DM1.
| Study group | Role | What they receive |
|---|---|---|
| Cohort of Patients with Myotonic Dystrophy Type 1 (DM1) | This cohort includes patients with Myotonic Dystrophy Type 1 (DM1), focusing on clinical observations to understand the natural progression of the disease. Observations cover changes in muscle function, respiratory capacity, cardiac health, and quality of life. Additionally, third-generation sequencing is used to determine repeat numbers, exploring the relationship between repeat expansion and clinical phenotypes. These insights aim to identify biomarkers of disease progression and provide foundational data for future therapeutic research. Receives: Genetic: Triplet-primed PCR or Long-read sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Triplet-primed PCR or Long-read sequencing
Genetic test of triplet-primed PCR or long-read sequencing is performed for these clinical suspected DM1 patients on the basis of the family as a whole. Eligible participants are genetically confirmed patients With CTG repeats >50 in DMPK gene.
Measured: Baseline
Muscle Impairment Rating Scale (MIRS)
This scale evaluates muscular impairment severity according to an ordinal 5-point scale as follows: (1) no muscular impairment, (2) minimal signs, (3) distal weakness, (4) mild to moderate proximal weakness, and (5) severe proximal weakness.
Measured: Baseline through study completion (an average of 1 year)
The modified Medical Research Council (MRC) scale
The modified Medical Research Council (MRC) scale is used to assess numerically the muscle strength of DM1 participants. Firstly, muscles are tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores are converted to calculable data of the modified MRC scale.
Measured: Baseline through study completion (an average of 1 year)
Secondary outcomes (2)
Changes in 6-Minute Walk Test
The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity.
Measured: Baseline through study completion (an average of 1 year)
Changes in 10 Metre Walk Test (10MWT)
The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function.
Measured: Baseline through study completion (an average of 1 year)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2025
- Study startJan 2008
- Primary completionDec 2038 (estimated)
- Study completionDec 2038 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy Type 1 (DM1)Studies of the same condition, open and under way.
- More trials run by First Affiliated Hospital of Fujian Medical UniversityThe 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
- 300 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06979024
- Sponsor's protocol ID
- MRCTA,ECFAH of FMU [2015]084-2
- Other IDs
- 8240063043
- Status last verified
- May 2025
- First submitted
- 28 Apr 2025
- Last updated
- 18 May 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Requests for IPD will be evaluated on a case-by-case basis.
Study at a glance
From the registry record, last updated by the sponsor on 18 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT06979024
- Acronym / sponsor ID
- MRCTA,ECFAH of FMU [2015]084-2
- Conditions
- Myotonic Dystrophy Type 1 (DM1)
- Keywords
- Myotonic Dystrophy Type 1, Tandem repeat
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- First Affiliated Hospital of Fujian Medical UniversityUniversity, hospital or other
- Study start
- Jan 2008 (actual)
- Primary completion
- Dec 2038 (estimated)
- Study completion
- Dec 2038 (estimated)
- First posted
- 18 May 2025 (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.
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy.There is little phenotype and genetic data for Chinese DM1 patients. The data to be collected is intended to fill this gap and provide complementary data
Detailed description
Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. The China DM1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed DM1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, the data to be collected is intended to fill this gap and provide complementary data.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort of Patients with Myotonic Dystrophy Type 1 (DM1) | – | Genetic: Triplet-primed PCR or Long-read sequencingThis cohort includes patients with Myotonic Dystrophy Type 1 (DM1), focusing on clinical observations to understand the natural progression of the disease. Observations cover changes in muscle function, respiratory capacity, cardiac health, and quality of life. Additionally, third-generation sequencing is used to determine repeat numbers, exploring the relationship between repeat expansion and clinical phenotypes. These insights aim to identify biomarkers of disease progression and provide foundational data for future therapeutic research. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All genetically-confirmed DM1 patients from families (with at least 1 affected member) in China, irrespective of age. The CTG repeats presented at least 50 repeats in DMPK gene, the diagnosis of which was performed at Fujian Neuromedical Center (FNMC), the clinical genetic test hospital for DM1 in China to employ triplet-primed PCR or long-read sequencing technology.
Key inclusion criteria (3 listed)
- Male or female subjects of all ages at baseline
- Subjects, with or without symptoms, with DM1 genetic confirmation through triplet-primed PCR or long-read sequencing
- Unrelated healthy controls
Key exclusion criteria (3 listed)
- Decline to participate
- Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Oculopharyngodistal Myopathy)
- Serious systemic illness (such as heart, liver, kidney disease or major mental illness)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Triplet-primed PCR or Long-read sequencingThis study involves long-read sequencing in patients with Myotonic Dystrophy Type 1 (DM1) to identify specific motifs, determine the range of repeat numbers, and assess the presence of interruptions in the CTG repeat sequence. The aim is to gain insights into the genetic variability and its clinical implications in DM1. | Genetic | Cohort of Patients with Myotonic Dystrophy Type 1 (DM1) |
Primary outcome
Triplet-primed PCR or Long-read sequencing
Time frame: Baseline
Genetic test of triplet-primed PCR or long-read sequencing is performed for these clinical suspected DM1 patients on the basis of the family as a whole. Eligible participants are genetically confirmed patients With CTG repeats >50 in DMPK gene.
Muscle Impairment Rating Scale (MIRS)
Time frame: Baseline through study completion (an average of 1 year)
This scale evaluates muscular impairment severity according to an ordinal 5-point scale as follows: (1) no muscular impairment, (2) minimal signs, (3) distal weakness, (4) mild to moderate proximal weakness, and (5) severe proximal weakness.
The modified Medical Research Council (MRC) scale
Time frame: Baseline through study completion (an average of 1 year)
The modified Medical Research Council (MRC) scale is used to assess numerically the muscle strength of DM1 participants. Firstly, muscles are tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores are converted to calculable data of the modified MRC scale.
2 secondary outcomes
Changes in 6-Minute Walk Test
Time frame: Baseline through study completion (an average of 1 year)
Changes in 10 Metre Walk Test (10MWT)
Time frame: Baseline through study completion (an average of 1 year)
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 18 May 2025.
- Individual participant dataSharing planned: Undecided. Requests for IPD will be evaluated on a case-by-case basis.
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DMCRN-02-001: Assessing Pediatric Endpoints in DM1
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Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 (DM1), run by First Affiliated Hospital of Fujian Medical University at 1 site in China.
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: enrolling by invitation, as of the sponsor's last update on 18 May 2025. 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 China. 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?
Triplet-primed PCR or Long-read sequencing (time frame: Baseline). The study lists 3 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 18 May 2025.