Myotonic Dystrophy Type 1 Clinical Trial
— PhenoDM1Official 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
NCT number | NCT02831504 |
Other study ID # | 7491 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | August 2015 |
Est. completion date | October 31, 2018 |
Verified date | April 2021 |
Source | Newcastle-upon-Tyne Hospitals NHS Trust |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 213 |
Est. completion date | October 31, 2018 |
Est. primary completion date | October 31, 2018 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United Kingdom | University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery | London | |
United Kingdom | Newcastle-upon-Tyne Hospitals NHS Trust | Newcastle Upon Tyne | Tyne And Wear |
Lead Sponsor | Collaborator |
---|---|
Newcastle-upon-Tyne Hospitals NHS Trust |
United Kingdom,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Sleep Study | Assessment by polysomnography and maintenance of wakefulness test (MWT) | 9-12 months | |
Other | Skeletal Muscle MRI of the lower extremities | Three imaging scans will be acquired of the lower extremities: T1-weighted images, TIRM images and Dixon images. | 9-12 months | |
Primary | 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 | Cognitive assessment | These questionnaires include:
Mini-Mental State Examination (MMS) Trail Making Test (TMT) Apathy Evaluation Scale (AES) |
9-12 months | |
Secondary | Quality of Life using patient-reported outcomes | These questionnaires include:
Individualised Neuromuscular Quality Of Life (InQoL) Myotonic Dystrophy Health Index (MDHI) |
9-12 months | |
Secondary | Fatigue and Daytime Sleepiness assessment using patient-reported outcomes | These questionnaires include:
Checklist Individual Strength Epworth Sleepiness Scale Fatigue and Daytime Sleepiness Scale |
9-12 months | |
Secondary | Pain assessment using patient-reported outcomes | These questionnaires include:
McGill questionnaire IVR Scale |
9-12 months | |
Secondary | Blood and Urine collection for genetic and molecular biomarker analysis | Collection of: RNA, DNA, Serum and Urine | 9-12 months | |
Secondary | Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis | 9-12 months |
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