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Development and Validation of a Disease-Specific, Patient-Reported Outcome Measure: The Myotonic Dystrophy Type 2
Charlotte Engebrecht1, Spencer Rosero1,2, Jennifer Weinstein1
1University of Rochester, Center for Health + Technology, Rochester, New York, USA.
Muscle & Nerve
|November 26, 2025
Summary
A new patient-reported outcome measure, the Myotonic Dystrophy Type 2 Health Index (MD2HI), has been developed and validated. This tool accurately quantifies disease burden in myotonic dystrophy type 2 (DM2) patients, aiding therapeutic trial optimization.
Area of Science:
- Neurology
- Clinical Research
- Patient-Reported Outcomes
Background:
- Myotonic dystrophy type 2 (DM2) requires validated instruments for clinical trials.
- Current measures may not fully capture the multifactorial nature of DM2.
- FDA guidelines emphasize the need for regulatory-grade, disease-specific PROs.
Purpose of the Study:
- To develop and validate a disease-specific patient-reported outcome (PRO) measure for DM2.
- To create an instrument capable of quantifying multifactorial disease burden.
- To ensure the measure is sensitive to clinically relevant changes in therapeutic trials.
Main Methods:
- Qualitative interviews and cross-sectional studies identified key DM2 symptoms.
- Symptom selection for the Myotonic Dystrophy Type 2 Health Index (MD2HI) prioritized prevalence, impact, and therapeutic relevance.
- Validation included beta interviews, test-retest reliability, factor analysis, and subgroup analysis.
Main Results:
- Seventy-four DM2 patients contributed to symptom identification.
- Beta testing confirmed the MD2HI's relevance, usability, and comprehensiveness.
- Longitudinal study showed high reliability (ICC=0.97) and internal consistency (Cronbach's α=0.98) for the 17-subscale MD2HI.
Conclusions:
- The MD2HI is a valid and reliable PRO for DM2.
- It effectively quantifies patient-perceived disease burden.
- The MD2HI can enhance the detection of treatment effects in DM2 clinical trials.
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