Observational Prolonged Trial in Myotonic Dystrophy type 1 to Improve Qol Standards, a Taget Identification Collaboration.

Observational Prolonged Trial in Myotonic Dystrophy type 1 to Improve Qol Standards, a Taget Identification Collaboration. - OPTIMISTIC

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON38289

Enrollment

Registered

2014-03-18

Start date

2014-02-01

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Myotonic Dystrofy type 1 and Dystrofia Myotonica (DM1)

Interventions

5.1 Behavioral change intervention In the OPTIMISTIC STUDY patients in the treatment arm will receive cognitive behaviour therapy (CBT). CBT is aimed at reducing the level of disabilities of patien

2) a reduced initiative and 3) suboptimal interaction with significant others. It is assumed that CBT will reduce these problems and thus enable DM1 patients to become more active. The intervention

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients DM1, genetically proven Older than 18 years CIS fatigue score >35

Exclusion criteria

Exclusion criteria: Severe depression at screening Neurologische of orthopedische co-morbiditeit Unable to complete study questionnaires

Design outcomes

Primary

Measure	Time frame
2.2 OUTCOMES See Appendix 1 for the trial outcome measurement schedule. 2.2.1 Primary Outcome The primary outcome measure will be the DM1-Activ measured at the end of the 10-month intervention period. DM1-Activ is a specific outcome measure of activity and participation for patients with DM1 [Hermans 2010].	—

Secondary

Measure	Time frame
2.2.2 Secondary Outcomes Activity (50 mins) • 6-minute walk test (6MWT) with BORG Scale assessment (0-10 Rating of Perceived Exertion score) • (Activities of Daily Living (ADL) assessment) • Myotonic Dystrophy Health Index (MDHI) • Physical activity measured with actometer (NB: participants take this home after each visit and wear for 2 weeks). Fatigue and sleepiness (10 mins) • Fatigue and Daytime Sleepiness Scale (FDSS) • Checklist Individual Strength (CIS) fatigue Quality of life (20 mins) • Individualised Neuromuscular Quality of Life Questionnaire (InQoL) Mood (15 mins) • Beck Depression Inventory for Primary Care Cognitive (20 mins) • Apathy evaluation scale (AES) • Stroop test 2.2.3 Measures used as potential effect modifiers We will collect some data to evaluate their potential as modifiers of the effect seen in the trial: • Muscular impairment rating scale (MIRS) • McGill pain questionnaire • CBT questionnaires (self-efficacy scale for fatigue (SES-28); Fatigue catastrophising scale (FCS); Focusing on symptoms (IMmQ); Illness acceptance scale; Social support (SSL-D). • Trail making • Adult Social Behavior Questionnaire (ASBQ) 2.2.4 Identification of Biomarkers and expansion of CTG repeats Whole blood will be collected in a standardised manner from all 286 DM1 participants enrolled in the trial, with 3x 10ml whole blood samples and up to 20ml urine sample collected per patient. These will be used for biomarker identification and for genetic work linked to CTG repeats. Identification of biomarkers mRNA and microRNA expression changes in serum samples will be collected for each participant in the trial (ie. 286 DM1 patients). In particular, attention will be paid to the expression of candidate microRNAs relevant to the following targets in addition to any others selected from initial next generation RNA sequencing studies in the discovery cohorts: • insulin receptor • muscle chloride channel • SERCA1 • RyR1 and • trop	—

Measure

Time frame

2.2.2 Secondary Outcomes Activity (50 mins) • 6-minute walk test (6MWT) with BORG Scale assessment (0-10 Rating of Perceived Exertion score) • (Activities of Daily Living (ADL) assessment) • Myotonic Dystrophy Health Index (MDHI) • Physical activity measured with actometer (NB: participants take this home after each visit and wear for 2 weeks). Fatigue and sleepiness (10 mins) • Fatigue and Daytime Sleepiness Scale (FDSS) • Checklist Individual Strength (CIS) fatigue Quality of life (20 mins) • Individualised Neuromuscular Quality of Life Questionnaire (InQoL) Mood (15 mins) • Beck Depression Inventory for Primary Care Cognitive (20 mins) • Apathy evaluation scale (AES) • Stroop test 2.2.3 Measures used as potential effect modifiers We will collect some data to evaluate their potential as modifiers of the effect seen in the trial: • Muscular impairment rating scale (MIRS) • McGill pain questionnaire • CBT questionnaires (self-efficacy scale for fatigue (SES-28); Fatigue catastrophising scale (FCS); Focusing on symptoms (IMmQ); Illness acceptance scale; Social support (SSL-D). • Trail making • Adult Social Behavior Questionnaire (ASBQ) 2.2.4 Identification of Biomarkers and expansion of CTG repeats Whole blood will be collected in a standardised manner from all 286 DM1 participants enrolled in the trial, with 3x 10ml whole blood samples and up to 20ml urine sample collected per patient. These will be used for biomarker identification and for genetic work linked to CTG repeats. Identification of biomarkers mRNA and microRNA expression changes in serum samples will be collected for each participant in the trial (ie. 286 DM1 patients). In particular, attention will be paid to the expression of candidate microRNAs relevant to the following targets in addition to any others selected from initial next generation RNA sequencing studies in the discovery cohorts: • insulin receptor • muscle chloride channel • SERCA1 • RyR1 and • trop

—

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)