Steinert disease
Conditions
Interventions
invasive assessments are not mandatory for this study. However, patients can opt-in to participate in drawing blood samples and undergoing (skin biopsies and) muscle biopsies.  
Sponsors
Maastricht Universitair Medisch Centrum +
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: Patients with genetically or clinically proven Mytonic Dystropy type 1 (DM1).
Exclusion criteria
Exclusion criteria: If a patient (or legal guardian) is unwilling or unable to give informed consent, the patient will be excluded When a patient has any contraindication for blood sampling or a skin/muscle biopsy (such as anticoagulants) the patient will be excluded from the invasive part of the study. But they can still be included for the national registry.Patients who are participating in an intervention trial are excluded from the invasive part of the study but can be included for the national registry.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| DM1ActivC© | — |
Secondary
| Measure | Time frame |
|---|---|
| General:Determination of vital capacity (supine and sitting position) (Pulmonary)Standard 12-lead ECG (Cardiac).24 hours rhythm registration (Holter) (Cardiac).Echocardiography (Cardiac).Cardiac MRI (CMR), using intravenous gadolinium (only in patients = 18 years) when indicated (Registry, Cardiac).Electrophysiological studies when indicated (Registry, Cardiac).Blood samples (Biomarkers & genetic material).Skin biopsies (Biomarkers & genetic material).Muscle biopsies (Biomarkers & genetic material).MRC- sumscore (Mototrische en spierfunctie).Muscular Impairment Rating Scale (MIRS) (Mototrische en spierfunctie).Hand-held Martin vigorimeter (Mototrische en spierfunctie).Voorkomen van myotonie en de locatie van myotonie (benen, handen, tong, ogen)Hand-grip myotonia relaxation time: tijd die nodigCompetent participants above 16 years:General Anxiety Disorder (GAD7) test (Cognitie).Patient Health questionnaire (PHQ9) (Cognitie).Pediatric Anxiety Rating scale – A- self report (PARS-A) (Cognitie).Fatigue and daytime sleepiness scale (FDSS) (vermoeidheid en slaperigheid)EuroQol 5D (EQ-5D) (kwaliteit van leven)Pain intensity (PI-NRS) (pijnintensiteit) Apathy Evaluation Survey (AES) (Cognitie/gedrag)Pediatric Anxiety Rating scale – Adult (PARS-A) (cognitie)Children:International Classification of Functioning, Disability and Health for Children and Youth (DM1-ICFCY-NL) (activiteiten en participatie belemmeringen).The Pediatric Anxiety Rating scale III (PARS III) (cognitie)the Childhood Motivation Scale (CMS) (cognitie)The Social Responsiveness scale (SRS-2) (gedrag)Behavior Rating Inventory of Executive Function (BRIEF) (gedrag)ADHD questionnaire (AVL) (gedrag)The Pediatric Quality of Life Inventory (kwaliteit van leven) | — |
Countries
Netherlands
Contacts
Public ContactK.M.H. Thiemann
Maastricht Universitair Medisch Centrum +
Outcome results
None listed