Clinical Trial: Observational Prolonged Trial in Myotonic Dystrophy Type 1

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration

Brief Summary:

Myotonic dystrophy type1 (DM1) is a rare, inherited, chronic progressive disease as well as an autosomal dominant multisystemic disorder. It is the most common adult form of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733 million people in Europe, we estimate that 75,000 people are DM1 patients in Europe.

The aim of OPTIMISTIC is to improve clinical practice in the management of patients with this rare disease for which no dedicated treatment is currently available. OPTIMISTIC is a multi-centre, randomised controlled trial designed to compare a two component tailored behavioural change intervention to increase physical activity against standard patient management regimes, with particular attention given to the definition of appropriate outcome measures and new clinical guidelines for DM1 management. The two components of the intervention are 1) cognitive behavioural therapy (CBT) and 2) graded physical activity and we will evaluate the intervention's effectiveness and safety against standard patient management.

Participants will be recruited from myotonic dystrophy clinics and neuromuscular centres in France, Germany, the Netherlands and the UK. A total of 286 male and female patients aged 18 years and older with genetically proven classical or adult DM1 suffering from severe fatigue (only DM1 patients with a CIS subscale fatigue score > 35 are likely to benefit from the intervention), able to walk independently and able to complete the trial interventions will be included.

A key objective of OPTIMISTIC is to provide outcome measures that are relevant for the patients and have a rate of change that is appropriate for a clinical trial timeframe. In addition, OPTIMISTIC will identify genetic factors that predict outcome and p

Detailed Summary:

Background DM1 is a rare, inherited, progressive disease as well as an autosomal dominant multisystemic disorder. It is the most common adult form of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733 million people in Europe, we estimate that 75,000 people are DM1 patients in Europe. Typical symptoms of the disease include progressive muscle weakness and wasting from distal to proximal, ptosis, weakness of facial, jaw and anterior neck muscles, myotonia, daytime sleepiness, fatigue and cataract. Other symptoms of adult DM1 include cardiac conduction defects, as well as endocrine, gastrointestinal and cognitive dysfunction. DM1 is one of the most variable human diseases, has complex, multisystemic and progressively worsening clinical manifestations and leads to severe physical impairment, restricted social participation and premature death.

There is no pharmaceutical treatment for causal or symptomatic relief of DM1 core symptoms (with the exception of Modafinil for excessive daytime sleepiness). Thus the aim of treatment is to relieve impairments, reduce limitations and optimise participation. Physical activity has been acknowledged as an important factor for health in general. For patients with a slowly progressive neuromuscular disease, such as DM1, there is accumulating evidence for prescribing low-to-moderate-intensity strength and aerobic exercise training, and an active lifestyle. Nevertheless, recent reviews conclude that existing studies are limited in number and quality, and that there is a need for disease-specific, randomised, controlled trials investigating the effect on quality of life.

RATIONALE FOR THE STUDY It was demonstrated recently by an OPTIMISTIC research partner that severe fatigue, defined as a score equal to or higher than 35 on the subscale fatigue of
Sponsor: Radboud University

Current Primary Outcome: DM1-Activ [ Time Frame: Baseline and 10 months ]

The primary outcome measure will be the change in DM1-Activ score. DM1-Activ is a specific outcome measure of activity and participation for patients with DM1.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Six Minute Walk Test [ Time Frame: Baseline and 10 months ]
    Six minute walk test with BORG scale assessment
  • Myotonic Dystrophy Health Index (MDHI) [ Time Frame: Baseline and 10 months ]
  • Physical activity measured with actometer [ Time Frame: Baseline and 10 months ]
  • Fatigue and Daytime Sleepiness Scale (FDSS) [ Time Frame: Baseline and 10 months ]
  • Checklist Individual Strength (CIS) [ Time Frame: Baseline and 10 months ]
  • Individualised Neuromuscular Quality of Life Questionnaire (InQoL) [ Time Frame: Baseline and 10 months ]
  • Beck depression Inventory for Primary Care [ Time Frame: Baseline and 10 months ]
  • Apathy Evaluation Scale (AES) [ Time Frame: Baseline and 10 months ]
  • Stroop Test [ Time Frame: Baseline and 10 months ]


Original Secondary Outcome: Same as current

Information By: Radboud University

Dates:
Date Received: April 11, 2014
Date Started: April 2014
Date Completion: December 2016
Last Updated: July 28, 2015
Last Verified: July 2015