PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)

NCT ID: NCT02831504

Last Updated: 2021-04-13

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 213 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-08-31
• Study Completion Date: 2018-10-31

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.

Conditions

Myotonic Dystrophy Type 1

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Myotonic Dystrophy type 1 (DM1) patients

Natural History Study

No interventions assigned to this group

Eligibility Criteria

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.

1. Aged between 18 and 55 years

2. Ambulant or ambulant-assisted

1. Aged between 18 and 55 years

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

1. Pacemaker, ICD or non-MRI-compatible prosthetic material.

1. ventilated patients

2. patients medicated with stimulants, including Modafinil

3. patients medicated with benzodiazepines or antidepressants

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Newcastle-upon-Tyne Hospitals NHS Trust

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hanns Lochmuller, MD, FAAN

Role: PRINCIPAL_INVESTIGATOR

University of Newcastle Upon-Tyne

Chris Turner, FRCP, PhD

Role: PRINCIPAL_INVESTIGATOR

National Hospital for Neurology and Neurosurgery

Locations

Newcastle-upon-Tyne Hospitals NHS Trust

Newcastle upon Tyne, Tyne and Wear, United Kingdom

University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery

London, , United Kingdom

Countries

United Kingdom

Other Identifiers

7491

Identifier Type: -

Identifier Source: org_study_id