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.
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
Enrollment
213
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
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)
Time frame: 9-12 months
Cognitive assessment
These questionnaires include: * Mini-Mental State Examination (MMS) * Trail Making Test (TMT) * Apathy Evaluation Scale (AES)
Time frame: 9-12 months
Quality of Life using patient-reported outcomes
These questionnaires include: * Individualised Neuromuscular Quality Of Life (InQoL) * Myotonic Dystrophy Health Index (MDHI)
Time frame: 9-12 months
Fatigue and Daytime Sleepiness assessment using patient-reported outcomes
These questionnaires include: * Checklist Individual Strength * Epworth Sleepiness Scale * Fatigue and Daytime Sleepiness Scale
Time frame: 9-12 months
Pain assessment using patient-reported outcomes
These questionnaires include: * McGill questionnaire * IVR Scale
Time frame: 9-12 months
Blood and Urine collection for genetic and molecular biomarker analysis
Collection of: RNA, DNA, Serum and Urine
Time frame: 9-12 months
Blood collection for Glycated Haemoglobin (HbA1c), Thyroid hormones, Androgens (in males only) analysis
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time frame: 9-12 months