PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)

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Myotonic Dystrophy 1
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Brief Title

PhenoDM1 (Myotonic Dystrophy Type 1 Natural History 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

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.

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 Type

Observational

Primary Outcome

Strength and function

Secondary Outcome

 Cognitive assessment

Condition

Myotonic Dystrophy Type 1

Study Arms / Comparison Groups

 Myotonic Dystrophy type 1 (DM1) patients
Description:  Natural History Study

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment

213

Start Date

August 2015

Completion Date

October 31, 2018

Primary Completion Date

October 31, 2018

Eligibility Criteria

        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

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Hanns Lochmuller, MD, FAAN, ,

Location Countries

United Kingdom

Location Countries

United Kingdom

Administrative Informations

NCT ID

NCT02831504

Organization ID

7491

Responsible Party

Sponsor

Study Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Study Sponsor

Hanns Lochmuller, MD, FAAN, Principal Investigator, University of Newcastle Upon-Tyne

Verification Date

April 2021