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Center for Health + Technology [CHeT]

URMC / Center for Health + Technology / Our Expertise / CHeT Outcomes / FSHD-HI: The Facioscapulohumeral Muscular Dystrophy Health Index

FSHD-HI: The Facioscapulohumeral Muscular Dystrophy Health Index

  • Type of Clinical Outcome Assessment (COA): Patient-reported outcome measure (PRO)
  • Administration Mode: Self-administered
  • Therapeutic Area: Facioscapulohumeral muscular dystrophy
  • Approximate Completion Time: 10 minutes
  • Required Supervision: None
  • Recall Period: Immediate point in time

Instrument Variations

  • The Facioscapulohumeral Muscular Dystrophy Health Index Short Form (FSHD-HI-SF)
    • FSHD-HI Short From Completion Time: Under 1 minute
  • The Facioscapulohumeral Muscular Dystrophy Health Index Pediatric Version (FSHD-HI-PED)
  • The Facioscapulohumeral Muscular Dystrophy Health Index Pediatric Version Short Form (FSHD-HI-PED-SF)

Symptom Subscales

  • Number of Independently Validated Symptom Subscales: 14

Shoulder & Arm Function; Mobility & Ambulation; Fatigue; Cognition; Ability to do Activities; Back, Chest & Abdominal Strength; Eating Function; Performance in Social Situations; Body Image; Hand Function; Satisfaction in Social Situations; Pain; Emotional Health; Communication Abilities

Instrument Attributes

  • The FSHD-HI is a patient-reported outcome (PRO) measure designed to assess symptoms and health-related quality-of-life from the perspective of patients with facioscapulohumeral muscular dystrophy.
  • 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 FSHD-HI is a fully valid, reliable, responsive, and disease-specific instrument capable of measuring changes in patient-reported health in patients with facioscapulohumeral muscular dystrophy in response to therapeutic intervention during clinical trials or clinical monitoring.
  • The instrument was developed using extensive patient input, including an analysis of 1,375 patient quotes and a large cross-sectional study involving 328 patients.
  • The FSHD-HI is highly relevant to patients, has low patient burden, correlates with markers of disease severity, and demonstrates low floor and no ceiling effects.
  • The FSHD-HI has been used as a sensitive outcome measure in an National Institutes of Health–funded, open-label study (STARFiSH) to examine the safety and tolerability of testosterone and recombinant human growth hormone (combination therapy) in adult men with FSHD and in multiple industry-sponsored studies.
  • Used in over 12 industry studies.
  • The FSHD-HI has shown a high correlation with functional outcomes, including the 6-minute walk distance, strength, and the FSHD-COM. In addition, the FSHD-HI total score and ability to do activities (activity limitations) subscale score are associated with both volitional peak oxygen consumption during cycling tests and with lean muscle.
  • English
  • English (Australia)
  • Dutch (Netherlands)
  • French (Canada)
  • French (France)
  • German (Germany)
  • Italian (Italy)
  • Japanese (Japan)
  • Serbian (Serbia)
  • Spanish (Spain)
  • Spanish (American)

Additional translations available upon request.

  • Johnson N, Quinn C, Eastwood E, Tawil R, Heatwole, C.  Patient Identified Burden in Fascioscapulohumeral Muscular Dystrophy.  Muscle and Nerve. 2012;46(6):948-50
  • Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York. Neuromuscul Disord. 2016; 26: 181-186. doi:10.1016/j.nmd.2015.10.005
  • Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York. Neuromuscul Disord. 2016; 26: 181-186. doi:10.1016/j.nmd.2015.10.005
  • Mul K, Kinoshita J, Dawkins H, et al. 225th ENMC International Workshop: a global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands. Neuromuscul Disord. 2017; 27: 782-790. doi:10.1016/j.nmd.2017.04.004
  • LoRusso S, Johnson NE, McDermott MP, et al. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019; 19: 224. doi:10.1186/s12883-019-1452-x
  • de Valle K, Dobson F, Woodcock I, et al. Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy. Neuromuscul Disord. 2021; 31: 706-715. doi:10.1016/j.nmd.2021.05.011
  • Varma A, Weinstein J, Seabury J, Rosero S, Engebrecht C, Wagner E, Zizzi C, Luebbe EA, Dilek N, McDermott MP, Kissel J, Sansone V, Heatwole C. The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure. Muscle Nerve. 2023 Oct;68(4):422-431. doi: 10.1002/mus.27951. Epub 2023 Aug 23. PMID: 37610084.Vera KA, McConville M, Glazos A, Stokes W, Kyba M, Keller-Ross M. Exercise intolerance in facioscapulohumeral muscular dystrophy. Med Sci Sports Exerc. 2022; 54: 887-895. doi:10.1249/MSS.0000000000002882
  • Vera K, McConville M, Kyba M, Keller-Ross M. Sarcopenic obesity in facioscapulohumeral muscular dystrophy. Front Physiol. 2022; 11:1008. doi:10.3389/fphys.2020.01008
  • Carraro E, Greco LC, Lizio A, Beretta M, Pozzi S, Casiraghi J, Becchiati S, Beshiri F, Frisoni MC, Iossa F, Heatwole C, Sansone V. The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden. Disabil Rehabil. 2024 May;46(10):2130-2137. doi: 10.1080/09638288.2023.2212181. Epub 2023 May 17.PMID: 37194629
  • Fujino H, Takahashi MP, Nakamura H, Heatwole CR, Takada H, Kuru S, Ogata K, Enomoto K, Hayashi Y, Imura O, Matsumura T. Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study. Disabil Rehabil. 2024 Mar 31:1-10. doi: 10.1080/09638288.2024.2322035. Online ahead of print.PMID: 38555736
  • Varma A, Todinca MS, Eichinger K, Heininger S, Dilek N, Martens W, Tawil R, Statland J, Kissel JT, McDermott MP, Heatwole C. A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve. 2024 Mar;69(3):362-367. doi: 10.1002/mus.28031. Epub 2024 Jan 8. PMID: 38189531; PMCID: PMC10922518
  • “Patient Identification of the Highest-Impact Symptoms and Issues in Facioscapulohumeral Muscular Dystrophy (FSHD).” Nicholas Johnson, Nancy Chin, Robert Holloway, Rabi Tawil, Richard Moxley, Christine Quinn, Barbara Vickrey, Chad Heatwole.  4/10 Platform presentation at the 62nd AAN. Citation: Neurology, Volume 74, supplement 2, S06.006.
  • “Results from a National Cross-Sectional Study of Disease-Burden in Facioscapulohumeral Muscular Dystrophy”. Invited platform presentation at the 2012 AAN meeting in New Orleans.
  • “Clinically Relevant Outcome Measures for Facioscapulohumeral Muscular Dystrophy.”  K Eichinger, C Donlin-Smith, C Heatwole, R Tawil, J Statland.  FSHD Society Meeting, Boston, 2013.
  • “Development and Use of Patient-Reported Outcome measures in Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy.”  Muscular Dystrophy Coordinating Committee.  Bethesda, MD.  4/2014.
  • “Reliability and Validity of the FSHD Composite Outcome Measure.”  K Eichinger, S Pandya, C Donlin-Smith, C Heatwole, A Tawil, J Statland.  American Academy of Neurology Meeting.  4/15.  Washington DC.
  • “The Facioscapulohumeral Dystrophy Composite Outcome Measure: 1 Year Findings.”   Katy Eichinger, Chad Heatwole, Susan Heininger, Rabi Tawil, Jeff Statland.  FSH Society FSHD International Research Consortium Workshop.  2016.
  • “Evaluation of Pain and Employment Status in the Patient-Reported Impact of Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD) Data Set.”  J. Hamel, N. Johnson, M. McDermott, C. Heatwole.  Muscle and Nerve.  Vol 56, Number S1.  9/2017
  • “STARFiSH: Study of Testosterone and rHGH in FSHD: A Proof-of-Concept Study.” E. Luebbe, P. Mongiovi, J. Hamel, E. Ciafaloni, N. Dilek, W. Martens, D. Weber, H. Rashid, J. Allen, C. Smith, S. Howell, S. Rosero, K. Eichinger, L. Baker, M. McDermott, R. Moxley, C. Thornton, C. Heatwole. The 13th International Myotonic Dystrophy Consortium Meeting (IDMC-13). Osaka, Japan. 6/22/22.
  • “Results from STARFiSH: The Study of Testosterone and rHGH in FSHD.” E. Luebbe, P. Mongiovi, J. Hamel, E. Ciafaloni, N. Dilek, W. Martens, D. Weber, H. Rashid, J. Allen, C. Smith, S. Howell, S. Rosero, K. Eichinger, L. Baker, J. Dekdebrun, J. Hilbert, A. Varma, M. McDermott, R. Moxley, C. Thornton, C. Heatwole. 23rd Annual Neuromuscular Study Group Scientific Meeting. Stresa, Lake Maggiore, Italy. 9/30/22.
  • “Results from a 36-Week Open-Label Study of Recombinant Human Growth Hormone and Testosterone in Facioscapulohumeral Muscular Dystrophy (FSHD).” C. Heatwole, E. Leubbe, J. Hamel, P. Mongiovi, E. Ciafaloni, N. Dilek, W. Martens, D. Weber, R. Hani, J. Allen, C. Smith, S. Howell, S. Rosero, K. Eichinger, L. Baker, J. Dekdebrun, J. Hilbert, A. Varma, M. McDermott, C. Thornton, R. Moxley. American Academy of Neurology (AAN) Annual Meeting. Boston, MA. 4/22/23.
  • “Development and Validation of the Facioscapulohumeral Muscular Dystrophy-Health Index (FSHD-HI), a Disease-Specific Patient-Reported Outcome Measure to Facilitate Clinical Trials”. A. Varma, J. Weinstein, J. Seabury, S. Rosero, C. Engebrecht, E. Wagner, C. Zizzi, E. Luebbe, N. Dilek, M. McDermott, J. Kissel, V. Sansone, C. Heatwole. Poster session presented at: 30th Annual FSHD Society International Research Congress; June 15-16, 2023; Milan, Italy.

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 FSHD-HI score (0-100) representing overall disease burden.

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