PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)

NCT02831504 | Completed

• 1 other identifier: 7491
• Study Type: observational
• Target: 213
• Locations: 1 country
• Sites: 2

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.

Conditions

Myotonic Dystrophy Type 1

Keywords

Myotonic Dystrophy type 1; DM1; Muscular Dystrophy; Neuromuscular Diseases

Outcome Measures

Primary Outcomes (1)

• Strength and function

  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)

  9-12 months

Secondary Outcomes (6)

• Cognitive assessment

  9-12 months

• Quality of Life using patient-reported outcomes

  9-12 months

• Fatigue and Daytime Sleepiness assessment using patient-reported outcomes

  9-12 months

• Pain assessment using patient-reported outcomes

  9-12 months

• Blood and Urine collection for genetic and molecular biomarker analysis

  9-12 months

Other Outcomes (2)

• Sleep Study

  9-12 months

• Skeletal Muscle MRI of the lower extremities

  9-12 months

Study Arms (1)

Myotonic Dystrophy type 1 (DM1) patients

Natural History Study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.
• Aged between 18 and 55 years
• Ambulant or ambulant-assisted
• \. Aged between 18 and 55 years

You may not qualify if:

• 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
• \. Pacemaker, ICD or non-MRI-compatible prosthetic material.
• ventilated patients
• patients medicated with stimulants, including Modafinil
• patients medicated with benzodiazepines or antidepressants

Sponsors & Collaborators

• Newcastle-upon-Tyne Hospitals NHS Trust: lead

Study Sites (2)

Newcastle-upon-Tyne Hospitals NHS Trust

Newcastle upon Tyne, Tyne and Wear, NE1 4LP, United Kingdom

Location

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

London, WC1N 3BG, United Kingdom

Location

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).

MeSH Terms

Conditions

Myotonic Dystrophy; Muscular Dystrophies; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Hanns Lochmuller, MD, FAAN

  University of Newcastle Upon-Tyne

  PRINCIPAL INVESTIGATOR

• Chris Turner, FRCP, PhD

  National Hospital for Neurology and Neurosurgery

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 22, 2016
• First Posted: July 13, 2016
• Study Start: August 1, 2015
• Primary Completion: October 31, 2018
• Study Completion: October 31, 2018
• Last Updated: April 13, 2021

Record last verified: 2021-04

Data Sharing

• IPD Sharing: Will share

Locations

GB (2)