Myotonic Dystrophy Type 1PhenoDM1NCT02831504
PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)
An observational study of Myotonic Dystrophy Type 1, run by Newcastle-upon-Tyne Hospitals NHS Trust at 2 sites in United Kingdom.
Trial summary
PhenoDM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of myotonia. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myotonic Dystrophy Type 1
- How many people
- 213 participants
- Where
- 2 sitesUnited Kingdom
- Study dates
- Aug 2015to 31 Oct 2018
- 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
- No healthy volunteers
- Adult, Older adult
Study population: Inclusion criteria will be limited to those over 18 years of age, with a genetic confirmation of DM1 who are able to provide informed consent. This unrestrictive approach will enable assessment of a true cross-section of the population, including those with congenital, childhood and adult onset. Two substudies will be open to a subset of patients, one assessing muscle through MRI and on focussing on sleep and fatigue. Additional restrictions may be in place to ensure the safety of the participants during these studies. Informed consent will be obtained from all patients, including detailed patient information. Sharing and storage of data and samples will be discussed in this information and covered appropriately in the consent.
Who may be able to join
- Main Inclusion Criteria
- 18 years of age or over
- Genetic confirmation of Myotonic Dystrophy Type 1
- Able to consent and willing to participate throughout the duration of the study.
- Additional Inclusion Criteria for MRI study:
- Aged between 18 and 55 years
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- Ambulant or ambulant-assisted
- Additional Inclusion Criteria for sleep study:
- 1. Aged between 18 and 55 years
Who cannot join
- Main Exclusion Criteria
- Inability to give informed consent
- If the clinician presumes that the patient will not be able to perform any of the motor function tests involved (Six Minute Walk Test, 30 Seconds Sit and Stand Test, Timed 10-Meter Walk Test)
- Inability to perform the cardiac and pulmonary assessments
- Additional Exclusion Criteria for MRI study:
- 1. Pacemaker, ICD or non-MRI-compatible prosthetic material.
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- Additional Exclusion Criteria for sleep study:
- ventilated patients
- patients medicated with stimulants, including Modafinil
- patients medicated with benzodiazepines or antidepressants
Trial locations and contacts
2 sites in 1 country.
United Kingdom2 sites
University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery
London, WC1N 3BG
Newcastle-upon-Tyne Hospitals NHS Trust
Newcastle upon Tyne, Tyne and Wear, NE1 4LP
About this study
Official title: Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials
PhenoDM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of myotonia. DNA, RNA, serum and CSF samples will be taken from all patients so that additional genetic and molecular biomarker analysis can be carried out. A subset of patients will undergo detailed sleep studies along with skeletal muscle MRI of the lower limbs. This study will complement the work of other groups currently looking at myotonic dystrophy type 1 using the same outcomes and measures where possible.
Read the detailed description
Myotonic Dystrophy type I (DM1) is the most common form of adult muscular dystrophy, affecting 1 in 8000 individuals. It is an autosomal dominant disorder with multisystemic involvement of multiple organs and tissues, namely brain, heart, endocrine system, eyes and both smooth and skeletal muscles. It results from the CTG expansion of an untranslated region 3' terminal of the DMPK gene which causes a disturbance of the RNA metabolism, in particular defective splicing of various pre-mRNAs such as the muscular chloride channel (causing myotonia), the insulin receptor (causing diabetes) and others. We will carry out an in-depth characterisation of 400 adult DM1 patients identified from local clinical populations across England and through the national DM Registry. Over a two year period we will take measurements 12 months apart to address specific symptoms that cause major quality of life impairment including muscle weakness, myotonia, excessive daytime sleepiness and cognitive impairment. DNA samples will be collected in order to determine the CTG repeat length and serum samples for biomarker identification. We will carry out muscle MRI and sleep studies in a subset of 50 patients. The implemented measures will capitalise on the efforts of previous cohort studies ensuring that all measures are comparable with existing datasets.
- Conditions
- Myotonic Dystrophy Type 1
- Keywords
- Myotonic Dystrophy type 1, DM1, Muscular Dystrophy, Neuromuscular Diseases
- Medical subject headings
- Myotonic Dystrophy, Muscular Dystrophies, Neuromuscular 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 type 1 (DM1) patients | Natural History Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Strength and function
These assessments include:
- Manual Muscle Testing
- Quantitative Muscle Testing (Hand Held Myometry, Hand-Grip Dynamometry)
- Pulmonary function testing (FVC and MIP)
- Functional evaluations (Nine Hole Peg Test, Six Minute Walk Test, 30 Seconds Sit and Stand Test, Timed 10-Meter Walk Test, Scale for Assessment and Rating of Ataxia Scale, Accelerometry Assessment)
Measured: 9-12 months
Secondary outcomes (6)
Cognitive assessment
These questionnaires include:
- Mini-Mental State Examination (MMS)
- Trail Making Test (TMT)
- Apathy Evaluation Scale (AES)
Measured: 9-12 months
Quality of Life using patient-reported outcomes
These questionnaires include:
- Individualised Neuromuscular Quality Of Life (InQoL)
- Myotonic Dystrophy Health Index (MDHI)
Measured: 9-12 months
Fatigue and Daytime Sleepiness assessment using patient-reported outcomes
These questionnaires include:
- Checklist Individual Strength
- Epworth Sleepiness Scale
- Fatigue and Daytime Sleepiness Scale
Measured: 9-12 months
Pain assessment using patient-reported outcomes
These questionnaires include:
- McGill questionnaire
- IVR Scale
Measured: 9-12 months
Blood and Urine collection for genetic and molecular biomarker analysis
Collection of: RNA, DNA, Serum and Urine
Measured: 9-12 months
Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis
Measured: 9-12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2016 (estimated)
- Study startAug 2015
- Primary completion31 Oct 2018
- Study completion31 Oct 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy Type 1Studies 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
- 213 participants (actual)
Sponsor and investigators
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Hanns Lochmuller, MD, FAAN, Principal investigator, University of Newcastle Upon-TyneChris Turner, FRCP, PhD, Principal investigator, National Hospital for Neurology and Neurosurgery
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02831504
- Sponsor's protocol ID
- 7491
- Acronym
- PhenoDM1
- Status last verified
- Apr 2021
- First submitted
- 22 Mar 2016
- Last updated
- 13 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials
- ClinicalTrials.gov ID
- NCT02831504
- Acronym / sponsor ID
- PhenoDM1 / 7491
- Conditions
- Myotonic Dystrophy Type 1
- Keywords
- Myotonic Dystrophy type 1, DM1, Muscular Dystrophy, Neuromuscular Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 213 participants (actual)
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS TrustUniversity, hospital or other
- Study start
- Aug 2015 (actual)
- Primary completion
- 31 Oct 2018 (actual)
- Study completion
- 31 Oct 2018 (actual)
- First posted
- 13 Jul 2016 (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.
PhenoDM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of myotonia. DNA, RNA, serum and CSF samples will be taken from all patients so that additional genetic and molecular biomarker analysis can be carried out. A subset of patients will undergo detailed sleep studies along with skeletal muscle MRI of the lower limbs. This study will complement the work of other groups currently looking at myotonic dystrophy type 1 using the same outcomes and measures where possible.
Detailed description
Myotonic Dystrophy type I (DM1) is the most common form of adult muscular dystrophy, affecting 1 in 8000 individuals. It is an autosomal dominant disorder with multisystemic involvement of multiple organs and tissues, namely brain, heart, endocrine system, eyes and both smooth and skeletal muscles. It results from the CTG expansion of an untranslated region 3' terminal of the DMPK gene which causes a disturbance of the RNA metabolism, in particular defective splicing of various pre-mRNAs such as the muscular chloride channel (causing myotonia), the insulin receptor (causing diabetes) and others. We will carry out an in-depth characterisation of 400 adult DM1 patients identified from local clinical populations across England and through the national DM Registry. Over a two year period we will take measurements 12 months apart to address specific symptoms that cause major quality of life impairment including muscle weakness, myotonia, excessive daytime sleepiness and cognitive impairment. DNA samples will be collected in order to determine the CTG repeat length and serum samples for biomarker identification. We will carry out muscle MRI and sleep studies in a subset of 50 patients. The implemented measures will capitalise on the efforts of previous cohort studies ensuring that all measures are comparable with existing datasets.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Myotonic Dystrophy type 1 (DM1) patients | – | –Natural History Study |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Inclusion criteria will be limited to those over 18 years of age, with a genetic confirmation of DM1 who are able to provide informed consent. This unrestrictive approach will enable assessment of a true cross-section of the population, including those with congenital, childhood and adult onset. Two substudies will be open to a subset of patients, one assessing muscle through MRI and on focussing on sleep and fatigue. Additional restrictions may be in place to ensure the safety of the participants during these studies. Informed consent will be obtained from all patients, including detailed patient information. Sharing and storage of data and samples will be discussed in this information and covered appropriately in the consent.
Key inclusion criteria (9 listed)
- Main Inclusion Criteria
- 18 years of age or over
- Genetic confirmation of Myotonic Dystrophy Type 1
- Able to consent and willing to participate throughout the duration of the study.
- Aged between 18 and 55 years
Key exclusion criteria (10 listed)
- Main Exclusion Criteria
- Inability to give informed consent
- If the clinician presumes that the patient will not be able to perform any of the motor function tests involved (Six Minute Walk Test, 30 Seconds Sit and Stand Test, Timed 10-Meter Walk Test)
- Inability to perform the cardiac and pulmonary assessments
- 1. Pacemaker, ICD or non-MRI-compatible prosthetic material.
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
Strength and function
Time frame: 9-12 months
These assessments include: * Manual Muscle Testing * Quantitative Muscle Testing (Hand Held Myometry, Hand-Grip Dynamometry) * Pulmonary function testing (FVC and MIP) * Functional evaluations (Nine Hole Peg Test, Six Minute Walk Test, 30 Seconds Sit and Stand Test, Timed 10-Meter Walk Test, Scale for Assessment and Rating of Ataxia Scale, Accelerometry Assessment)
6 secondary outcomes
Cognitive assessment
Time frame: 9-12 months
Quality of Life using patient-reported outcomes
Time frame: 9-12 months
Fatigue and Daytime Sleepiness assessment using patient-reported outcomes
Time frame: 9-12 months
Pain assessment using patient-reported outcomes
Time frame: 9-12 months
Blood and Urine collection for genetic and molecular biomarker analysis
Time frame: 9-12 months
Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis
Time frame: 9-12 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 13 Apr 2021.
- Individual participant dataSharing planned: Yes
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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.
Hanns Lochmuller, MD, FAAN principal investigator
University of Newcastle Upon-Tyne
Chris Turner, FRCP, PhD principal investigator
National Hospital for Neurology and Neurosurgery
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 Myotonic Dystrophy Type 1, run by Newcastle-upon-Tyne Hospitals NHS Trust at 2 sites in United Kingdom.
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 9 inclusion and 10 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 13 Apr 2021. 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 Kingdom. 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?
Strength and function (time frame: 9-12 months). 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 13 Apr 2021.