Myotonic Dystrophy Type 2 Clinical Trial
Official title:
Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.
Myotonic dystrophy type 2 (DM2) is an autosomal dominant, chronic progressive multisystemic
disorder. Typical symptoms of DM2 include progressive proximal muscle weakness and wasting,
often combined with axial and anterior neck muscles involvement, myotonia, muscular pain,
fatigue and cataracts. The estimated prevalence is approximately 1 per 100,000 people, but in
some nations as Germany the DM2 frequency is much higher than and close to 1.12.000. Compared
to DM1 it has a relatively short history, as the genetic base and RNA pathogenesis have been
clarified in 2003. In order to evaluate specific clinical aspects of DM2 and disease
progression, the development and validation of ad-hoc tests is a unmet need in the
neuromuscular field. Today, only a few outcome measures were used systematically in DM2
patients, and none of them provide so far a validation of a clinical meaningful difference
for an interventional clinical trial.
The aims of this monocentric, observational, case-control study are:
1. select and validate patient reported outcomes (PRO) and outcome measures (OM) in a large
group of DM2 patient
2. Propose a DM2-specific scale of disease severity
3. collecting additional information regarding the phenotype and the progression of the
disease;
4. identify differences between subgroups (e.g. age, sex, years of disease).
Participants will be recruited from the German-Swiss Registry for Myotonic Dystrophy and the
internal database of the Friedrich-Baur-Institute (FBI), Department of Neurology,
Ludwig-Maximilian-University, Munich, Germany. A total of at least 60 male and female
patients with no age limit and with genetically proven DM2 will be included. Forty age and
gender-matched controls will be also assessed.
During the first evaluation of the DM2 and the controls group, the following PROs and OMs
will be evaluated:
General survey (Comorbidity, BMI, familiarity, onset, etc…), DM1-ActivC, R-Pact, FDSS, McGill
pain questionnaire - short form, Brief pain inventory - short form, Beck depression
inventory, Myotonia behaviour scale, Myotonia subscale from INQoL, Hand opening time,
pressure pain threshold, manual and quantitative muscle testing, SARA scale, Berg balance
scale, QMFT, GSGC, 30 second sit and stand test, FI-2 (only for upper extremities), 6-MWT.
After six months a second evaluation of the DM2 group will be performed, in which all PROs
and OMs except the general survey will be repeated.
Data analysis will provide descriptive statistic and a complete validity and reliability
informations. On the basis of these results, a disease specific severity scale will be
proposed for the clinical use.
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