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NCT Number: NCT02831504

PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)

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.

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Key information

Conditions

Myotonic Dystrophy Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle upon Tyne, Tyne and Wear, United Kingdom

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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:

  • 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:

  • 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

Treatment and study plan

Primary outcomes

  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 outcomes

  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 outcomes

  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.

Sponsors and collaborators

Lead sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Other

Registry information

Official study 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

Acronym: PhenoDM1

Important dates

Study start
2015
Primary completion
2018
Study completion
2018
First posted
Jul 13, 2016
Registry last updated
Apr 13, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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