PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) (PhenoDM1)
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ClinicalTrials.gov Identifier: NCT02831504 |
Recruitment Status :
Completed
First Posted : July 13, 2016
Last Update Posted : April 13, 2021
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Condition or disease |
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Myotonic Dystrophy Type 1 |
Study Type : | Observational |
Actual Enrollment : | 213 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
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 |
Actual Study Start Date : | August 2015 |
Actual Primary Completion Date : | October 31, 2018 |
Actual Study Completion Date : | October 31, 2018 |

Group/Cohort |
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Myotonic Dystrophy type 1 (DM1) patients
Natural History Study
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- 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)
- Cognitive assessment [ Time Frame: 9-12 months ]
These questionnaires include:
- Mini-Mental State Examination (MMS)
- Trail Making Test (TMT)
- Apathy Evaluation Scale (AES)
- Quality of Life using patient-reported outcomes [ Time Frame: 9-12 months ]
These questionnaires include:
- Individualised Neuromuscular Quality Of Life (InQoL)
- Myotonic Dystrophy Health Index (MDHI)
- Fatigue and Daytime Sleepiness assessment using patient-reported outcomes [ Time Frame: 9-12 months ]
These questionnaires include:
- Checklist Individual Strength
- Epworth Sleepiness Scale
- Fatigue and Daytime Sleepiness Scale
- Pain assessment using patient-reported outcomes [ Time Frame: 9-12 months ]
These questionnaires include:
- McGill questionnaire
- IVR Scale
- Blood and Urine collection for genetic and molecular biomarker analysis [ Time Frame: 9-12 months ]Collection of: RNA, DNA, Serum and Urine
- Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis [ Time Frame: 9-12 months ]
- Sleep Study [ Time Frame: 9-12 months ]Assessment by polysomnography and maintenance of wakefulness test (MWT)
- Skeletal Muscle MRI of the lower extremities [ Time Frame: 9-12 months ]Three imaging scans will be acquired of the lower extremities: T1-weighted images, TIRM images and Dixon images.
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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.
Inclusion Criteria:
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
- Ambulant or ambulant-assisted
Additional Inclusion Criteria for sleep study:
1. Aged between 18 and 55 years
Exclusion Criteria:
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.
Additional Exclusion Criteria for sleep study:
- ventilated patients
- patients medicated with stimulants, including Modafinil
- patients medicated with benzodiazepines or antidepressants

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02831504
United Kingdom | |
Newcastle-upon-Tyne Hospitals NHS Trust | |
Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 4LP | |
University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery | |
London, United Kingdom, WC1N 3BG |
Principal Investigator: | Hanns Lochmuller, MD, FAAN | University of Newcastle Upon-Tyne | |
Principal Investigator: | Chris Turner, FRCP, PhD | National Hospital for Neurology and Neurosurgery |
Responsible Party: | Newcastle-upon-Tyne Hospitals NHS Trust |
ClinicalTrials.gov Identifier: | NCT02831504 |
Other Study ID Numbers: |
7491 |
First Posted: | July 13, 2016 Key Record Dates |
Last Update Posted: | April 13, 2021 |
Last Verified: | April 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Myotonic Dystrophy type 1 DM1 Muscular Dystrophy Neuromuscular Diseases |
Myotonic Dystrophy Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases Myotonic Disorders |
Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Neuromuscular Diseases Genetic Diseases, Inborn |