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PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) (PhenoDM1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02831504
Recruitment Status : Completed
First Posted : July 13, 2016
Last Update Posted : April 13, 2021
Information provided by (Responsible Party):
Newcastle-upon-Tyne Hospitals NHS Trust

Brief 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. 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.

Condition or disease
Myotonic Dystrophy Type 1

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.

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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

Myotonic Dystrophy type 1 (DM1) patients
Natural History Study

Primary Outcome Measures :
  1. 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)

Secondary Outcome Measures :
  1. Cognitive assessment [ Time Frame: 9-12 months ]

    These questionnaires include:

    • Mini-Mental State Examination (MMS)
    • Trail Making Test (TMT)
    • Apathy Evaluation Scale (AES)

  2. 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)

  3. 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

  4. Pain assessment using patient-reported outcomes [ Time Frame: 9-12 months ]

    These questionnaires include:

    • McGill questionnaire
    • IVR Scale

  5. Blood and Urine collection for genetic and molecular biomarker analysis [ Time Frame: 9-12 months ]
    Collection of: RNA, DNA, Serum and Urine

  6. Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis [ Time Frame: 9-12 months ]

Other Outcome Measures:
  1. Sleep Study [ Time Frame: 9-12 months ]
    Assessment by polysomnography and maintenance of wakefulness test (MWT)

  2. 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
All blood and urine will be processed and stored in Newcastle Biobank for Research of Neuromuscular Disorders (Newcastle and North Tyneside 1 -REF/08/H0906/28).

Information from the National Library of Medicine

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.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
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.


Inclusion Criteria:

Main Inclusion Criteria

  1. 18 years of age or over
  2. Genetic confirmation of Myotonic Dystrophy Type 1
  3. Able to consent and willing to participate throughout the duration of the study.

Additional Inclusion Criteria for MRI study:

  1. Aged between 18 and 55 years
  2. Ambulant or ambulant-assisted

Additional Inclusion Criteria for sleep study:

1. Aged between 18 and 55 years

Exclusion Criteria:

Main Exclusion Criteria

  1. Inability to give informed consent
  2. 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)
  3. 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:

  1. ventilated patients
  2. patients medicated with stimulants, including Modafinil
  3. patients medicated with benzodiazepines or antidepressants

Information from the National Library of Medicine

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 identifier (NCT number): NCT02831504

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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
Sponsors and Collaborators
Newcastle-upon-Tyne Hospitals NHS Trust
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Principal Investigator: Hanns Lochmuller, MD, FAAN University of Newcastle Upon-Tyne
Principal Investigator: Chris Turner, FRCP, PhD National Hospital for Neurology and Neurosurgery
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Responsible Party: Newcastle-upon-Tyne Hospitals NHS Trust 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
Keywords provided by Newcastle-upon-Tyne Hospitals NHS Trust:
Myotonic Dystrophy type 1
Muscular Dystrophy
Neuromuscular Diseases
Additional relevant MeSH terms:
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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