A long-term observational study in patients with Myotonic Dystrophy Type 1: The OPTIMISTIC follow-up

A long-term observational study in patients with Myotonic Dystrophy Type 1: The OPTIMISTIC follow-up - OPTIMISTIC2

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON57590

Enrollment

Registered

2024-08-27

Start date

2026-02-09

Completion date

Unknown

Last updated

2026-02-16

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

Conditions

Myotonic Dystrophy type 1 Myotonic Dystrophy type 1

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Older than 18 genetically confirmed DM1 participant of previous OPTIMISTIC trial

Exclusion criteria

Exclusion criteria: Unable to complete study questionnaires

Design outcomes

Primary

Measure	Time frame
The primary outcome measure will be the DM1-ActivC questionnaire score. The DM1-ActivC is a Rasch-built interval measure of activity and participation for patients with Myotonic Dystrophy type 1	—

Secondary

Measure	Time frame
Outcome measures Activity: - 6-minute walk test (6MWT) with Borg scale assessment (0-10 rating of perceived ex-ertion score). Fatigue and sleepiness: - Fatigue and Daytime Sleepiness Scale (FDSS). - Checklist Individual Strength (CIS) fatigue. Mood: - Beck Depression Inventory for Primary Care (BDI-II-NL-R). Cognitive: - Apathy Evaluation Scale (AES-i, AES-c). - Stroop test. - Trial making test. - Adult Social Behaviour Questionnaire (ASBQ) 5.1.3 Measures used as potential effect modifiers We will collect some data to serve as control variables. - Muscular Impairment Rating Scale (MIRS) - Social support (SSL-D, SSL-I, SSL-N) 5.1.4. Biomarkers Whole blood will be collected in a standardized manner from all participants enrolled in the trial. During this study, 1x 30ml whole blood sample will be collected (10ml for DNA in EDTA plasma tubes, 10ml for RNA in Tempus tubes and 10ml serum in serum tubes with clot activator). The DNA samples will be used to re-evaluate the CTG-repeat expansion, as this disease causing mutation is known to be unstable and progressive over time. RNA-samples will be sequenced to generate quantitative gene expression counts. The serum samples will be used in an unlabeled mass-spectrometry workflow to generate quantitative protein expression profiles.	—

Measure

Time frame

Outcome measures Activity: - 6-minute walk test (6MWT) with Borg scale assessment (0-10 rating of perceived ex-ertion score). Fatigue and sleepiness: - Fatigue and Daytime Sleepiness Scale (FDSS). - Checklist Individual Strength (CIS) fatigue. Mood: - Beck Depression Inventory for Primary Care (BDI-II-NL-R). Cognitive: - Apathy Evaluation Scale (AES-i, AES-c). - Stroop test. - Trial making test. - Adult Social Behaviour Questionnaire (ASBQ) 5.1.3 Measures used as potential effect modifiers We will collect some data to serve as control variables. - Muscular Impairment Rating Scale (MIRS) - Social support (SSL-D, SSL-I, SSL-N) 5.1.4. Biomarkers Whole blood will be collected in a standardized manner from all participants enrolled in the trial. During this study, 1x 30ml whole blood sample will be collected (10ml for DNA in EDTA plasma tubes, 10ml for RNA in Tempus tubes and 10ml serum in serum tubes with clot activator). The DNA samples will be used to re-evaluate the CTG-repeat expansion, as this disease causing mutation is known to be unstable and progressive over time. RNA-samples will be sequenced to generate quantitative gene expression counts. The serum samples will be used in an unlabeled mass-spectrometry workflow to generate quantitative protein expression profiles.

—

Countries

Netherlands

Contacts

Public ContactL.A. la Fontaine

Maastricht Universitair Medisch Centrum +

leandre.lafontaine@radboudumc.nl0639070096

Outcome results