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Center for Health + Technology [CHeT]

URMC / Center for Health + Technology / Our Expertise / CHeT Outcomes / MDHI: The Myotonic Dystrophy Health Index

MDHI: The Myotonic Dystrophy Health Index

  • Type of Clinical Outcome Assessment (COA): Patient-reported outcome measure (PRO)
  • Administration Mode: Self-administered
  • Therapeutic Area: Myotonic dystrophy type 1
  • Number of Clinical Trials Used In:  >33
  • Approximate Completion Time: <15 minutes
  • Required Supervision: None
  • Recall Period: Immediate point in time

Instrument Variations

  • The Myotonic Dystrophy Health Index Short Form (MDHI-SF)
    • MDHI Short From Approximate Completion Time: Under 1 minute

Symptom Subscales

  • Number of Independently Validated Symptom Subscales: 17

Mobility; Upper Extremity Function; Ability to do Activities; Fatigue; Pain; Gastrointestinal Issues; Vision; Communication; Sleep; Emotional Issues; Cognitive Impairment; Social Satisfaction; Social Performance; Myotonia; Breathing; Swallowing; Hearing

Instrument Attributes

  • The MDHI is a patient-reported outcome (PRO) measure designed to assess symptoms and health-related quality-of-life from the perspective of patients with myotonic dystrophy type 1.
  • Designed and validated to fully satisfy regulatory and published FDA guidance for use in drug-labeling claims and measuring changes in how a patient feels and functions.
  • The MDHI is a fully valid, reliable, responsive, and disease-specific instrument capable of measuring changes in patient-reported health in patients with myotonic dystrophy type 1 in response to therapeutic intervention during clinical trials or clinical monitoring.
  • The instrument was developed using extensive patient input, including an analysis of 1,165 patient quotes and a large cross-sectional study involving 278 patients.
  • The MDHI is highly relevant to patients, has low patient burden, correlates with markers of disease severity, and demonstrates few floor and no ceiling effects.
  • Based on the MDHI’s minimal clinically important difference, when used to design a study, the MDHI generates a three-fold reduction in sample size requirements compared to the 6-minute walk test.  The MDHI has a high level of convergent and construct validity as demonstrated by significant and widespread associations between MDHI scores and 60 other matched clinical assessments, including measures of strength, myotonia, motor and respiratory function, ambulation, and body composition.
  • When compared to the InQOL and SF-36, the MDHI is preferred by patients and has a stronger correlation to functional state and disability status.
  • The NIH (NINDS Common Data Elements Initiative) has identified the MDHI as the only recommended instrument to measure patient-reported multifactorial disease burden during future therapeutic studies.
  • Used in industry, academic, and foundation studies.
  • English
  • Chinese (Traditional)
  • Dutch (BE)
  • Dutch (NL)
  • French (BE)
  • French (CA)
  • French (FR)
  • German (BE)
  • German (GE)
  • Italian
  • Japanese
  • Korean
  • Serbian (in progress)
  • Spanish (SP)
  • Swedish
  • Thai

Additional translations available upon request.

  • Heatwole C, Bode R, Johnson N, et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology. 2012;79:348-57
  • Heatwole, C, Bode, R, Johnson, N, Dekdebrun, J; Dilek, N;  Heatwole, M;  Hilbert, J,  Luebbe, E;  Martens, W;  McDermott, M; Rothrock, N;  Thornton, C; Vickrey, B; Victorson, D; Moxley, R.  The Myotonic Dystrophy Health Index: Initial Evaluation of a New Outcome Measure. Muscle and Nerve.  2014 Jun;49(6):906-14.
  • Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR. The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study. J Neuromuscul Dis. 2015 Oct 7;2(4):447-452. doi: 10.3233/JND-150095.PMID: 27858748.
  • Heatwole, C; Bode, R; Johnson, N; Dekdebrun, J; Eichinger, K; Hilbert, J; Logigian, E; Luebbe, E, Martens, W; McDermott, M; Pandya, S; Puwanant, A, Rothrock, N; Thornton, C; Vickrey, B; Victorson, D; Moxley, R.  The Myotonic Dystrophy Health Index: Correlations with clinical tests and patient function.  Muscle and Nerve.  2016 Feb;53(2):183-90.
  • Hesterlee S, Amur S, Bain LJ, Carulli J, Clarke S, Day JW, Gagnon C, Hagerman K, Heatwole C, Johnson NE, Moxley R 3rd, Patel N, Thornton C, Kessel W, White M. Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop. Ther Innov Regul Sci. 2017 Jul;51(4):516-522. doi: 10.1177/2168479016683988. Epub 2017 Feb 9.PMID: 30227044
  • Tara Symonds , Jason A Randall , Patrick Campbell . Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients. Muscle Nerve . 2017 Jul;56(1):86-92. doi: 10.1002/mus.25469. Epub 2017 Mar 1.
  • Sansone, V; Lizio, A; Greco, L; Gragnano, G; Zanolini, A; Gualandris, M; Iatomasi, M; Heatwole, C.  The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure.  Neuromuscular Disorders.  2017 Nov;27(11):1047-1053.
  • Heatwole C, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert J, Luebbe E, Martens W, McDermott MP, Thornton C, Moxley R.  Myotonic Dystrophy Patient Preferences in Patient-Reported Outcome Measures. Muscle and Nerve. 2018;58(1):49-55.
  • Gagnon, C; Tremblay, M; Cote, I; Heatwole, C.  French translation and cultural adaptation of the Myotonic Dystrophy Health Index (MDHI).  Muscle and Nerve.  2018 Apr;57(4):686-689.
  • Mori I, Fujino H, Matsumura T, Takada H, Ogata K, Nakamori M, Innami K, Shingaki H, Imura O, Takahashi MP, Heatwole, C. The myotonic dystrophy health index: Japanese adaption and validity testing. Muscle Nerve. 2019;59(5):577-582. doi:10.1002/mus.26422
  • Deutsch GK, Hagerman KA, Sampson J, Dent G, Dekdebrun J, Parker DM, Thornton CA, Heatwole CR, Subramony SH, Mankodi AK, Ashizawa T, Statland JM, Arnold WD, Moxley RT 3rd, Day JW, & Myotonic Dystrophy Clinical Research Network. Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation. Muscle Nerve. 2022;65(5):560-567. doi:10.1002/mus.27520
  • “Correlation between Measures of Muscle Mass, Strength, Function and Quality of Life (QOL) in Patients with Myotonic Dystrophy Type 1 (DM-1): Implications for Clinical Trials.”  Shree Pandya, Nuran Dilek, Bill Martens, Christine Quinn, Michael McDermott, Chad Heatwole, Charles Thornton, Richard Moxley.  9/2007 at the 6th international myotonic dystrophy consortium meeting.
  • “Disease Burden in DM1: Results from a 278 Patient Cross Sectional Study” C Heatwole, R Bode, N Johnson, C Quinn, W Martens, M McDermott, N Rothrock, C Thornton, B Vickrey, D Victorson, R Moxley. 2011 at IDMC-8.
  • “Myotonic-Dystrophy Type-1: Patient Validation Study of the Highest-Impact Symptoms and Issues.” Chad Heatwole, Rita Bode, Nicholas Johnson, Christine Quinn, William Martens, Richard Moxley, Barbara Vickrey, David Victorson.  4/2011 at the 63rd AAN. Citation: Neurology, Volume 76, supplement 4, P06.276.
  • “Dystrophy Type 1: Location, Description and Severity- Implications for Clinical Trials.”  S Pandya, K Eichinger, N Dilek, J Dekdebrun, W Martens, C Heatwole, C Thornton, R Moxley. (P05.184) Neurology April 22, 2012 78:P05.184.
  • “The Myotonic Dystrophy Type-1 Health Index (MDHI): An Analysis of its Ability to Differentiate Between Clinically Distinct Populations.” C Heatwole, R Bode, J Dekdebrun, N Dilek, N Johnson, E Luebbe, W Martens, C Thornton, R Moxley.  Abstract accepted for the ISPOR meeting in Berlin, Germany.  11/2012.
  • “Update on the Myotonic Dystrophy Health Index (MDHI).”  Myotonic Dystrophy Clinical Research Network.  Dallas, Texas.  2/23/2013.
  • “A Clinical Study of the Perception and Prioritization of Cognitive symptoms in Myotonic Dystrophy Type-1 (DM1).”  C Heatwole, N Johnson, E Luebbe, J Dekdebrun, J Hilbert, N Dilek, W Martens, R Moxley.  The Muscle Study Group.  Oxford, UK. 9/13.  Muscle and Nerve. September 2013 48:S1. S6.
  • “Challenges Related to the Selection of Outcome Measures in the Context of a Rare and Slowly Progressive Disease: Conclusions From the Outcome Measures in Myotonic Dystrophy (OMMYD-2) Meeting.”  Cynthia GAGNON, Giovanni MEOLA, Luc J. HÉBERT, Luc LABERGE, Chad Heatwole, Mario LEONE.  IDMC-9.  10/2013.  San Sebastian, Spain.
  • “Development and Use of Patient-Reported Outcome measures in Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy.”  Muscular Dystrophy Coordinating Committee.  Bethesda, MD.  4/2014.
  • “Myotonic Muscular Dystrophy Global Impact: The Wide-Ranging Cognitive and Non-Cognitive Symptoms of Myotonic Dystrophy.”  The National Society of Genetic Counselors Annual Conference.  New Orleans, LA.  9/2014.
  • “Measuring Meaningful Clinical Change During Therapeutic Trials: The Emergence of the Myotonic Dystrophy Health Index (MDHI).”  The Myotonic Dystrophy Foundation Annual Conference.  Washington, D.C.  9/2014.
  • “Capturing What Patients Already Know: The Development and Use of the Myotonic Dystrophy Health Index (MDHI).” The Myotonic Dystrophy Foundation Annual Conference.  Washington, D.C.  9/2014.
  • “The Myotonic Dystrophy Health Index (MDHI): Correlations with Clinical Tests and Patient Function.” Chad Heatwole, Rita Bode, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek,  Katy Eichinger, James E. Hilbert,  Eric Logigian,  Elizabeth Luebbe,  William Martens, Michael P. McDermott, Shree Pandya,  Araya Puwanant, Nan Rothrock, Charles Thornton, Barbara G. Vickrey, M.P.H., David Victorson, Richard T. Moxley.  Paris, France.  6/12/15.
  • “DM Trial Endpoints Selection: Myotonic Dystrophy Health Index.”  Arlington, VA.  Myotonic Dystrophy Foundation/FDA Regulatory Meeting.  9/17/2015.
  • “Patient Preferences on the Use of Three, Patient-Reported Outcome Measures of Health in Myotonic Dystrophy Type 1.”  C. Heatwole, N. Johnson, J. Dekdebrun, N. Dilek, K. Eichinger, J. Hilbert, E. Luebbe, W. Martens, M. McDermott, C. Thornton, R. Moxley.  Muscle and Nerve.  September 2016.  V. 54.  Number S1.
  • “A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1).  Chad Heatwole, Elizabeth Luebbe, Spencer Rosero, Katy Eichinger, Bill Martens, James Hilbert, Jeanne Dekdebrun, Nuran Dilek, Nicholas Johnson, Rabi Tawil, Wojciech Zareba, Michael McDermott, Charles Thornton, Richard Moxley.  International Myotonic Dystrophy Meeting (IDMC-11).  San Francisco, CA.  9/7/2017.
  • “Patient Reported Outcome Measure Patient Preferences in Trials Studying Myotonic Dystorphy Type 1 (PROMPTS DM1).”  Chad Heatwole, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek, Katy Eichinger, James Hilbert, Elizabeth Luebbe, William Martens, Michael McDermott, Charles Thornton, Richard Moxley.  International Myotonic Dystrophy Meeting (IDMC-11).  San Francisco, CA.  9/7/2017.
  • “The Myotonic Dystrophy Health Index: Italian Validation of a Disease-Specific Outcome Measure.”  Valeria Sansone, Andrea Lizio, Lucia Greco, Gaia Gragnano, Alice Zanolini, Marco Gualandris, Marino Iatomasi, Chad Heatwole. International Myotonic Dystrophy Meeting (IDMC-11).  San Francisco, CA.  9/7/2017.
  • “Prospective Measurement of Quality of Life in Myotonic Dystrophy Type 1.”  Stojan Peric, Chad Heatwole, Ervin Durovic, Aleksandra Kacar, Ana Nikolic, Ivana Basta, Ana Marjano vic, Zorica Stevic, Dragana Lavrnic, Vidosava Rakocevic Stojanovic. International Myotonic Dystrophy Meeting (IDMC-11).  San Francisco, CA.  9/7/2017.
  • “Validation of the Japanese Version of the Myotonic Dystrophy Health Index (MDHI).”  Haruo Fujino, Tsuyoshi Matsumura, Hiroto Takada, Katsuhisa Ogata, Honoko Shingaki, Osamu Imura, Chad Heatwole, Masanori Takahashi. International Myotonic Dystrophy Meeting (IDMC-11).  San Francisco, CA.  9/7/2017.
  • “Myotonic Dystrophy: Understanding the World’s Most Clinically Diverse Disease.”  Houston Methodist Neurological Institute and Research Institute Patient Symposium.  Houston.  10/14/17.
  • “The MDHI’s Cognitive Subscale: A Potential Longitudinal Marker of Cognitive Function.”  OMMYD-4.  Central Nervous System Biomarker Sessions.  Gothenburg, Sweden.  6/10/2019.

Instrument Scoring

All subscales are scored on a scale of 0 to 100 with 0 representing no disease burden and 100 representing the maximum level of disease burden. Symptom questions within each subscale are weighted based on participant-reported prevalence and average impact as identified through the cross-sectional study. Subscale scores are also weighted to generate a total MDHI score (0-100) representing overall disease burden.

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