Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

Samantha LoRusso, Nicholas E Johnson, Michael P McDermott, Katy Eichinger, Russell J Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M Statland, Rabi Tawil, ReSolve Investigators and the FSHD CTRN18, Mazen Dimachkie, Mamatha Pasnoor, Kiley Higgs, Katherine Roath, Ayla McCalley, Melissa Currence, Laura Herbelin, Rabi Tawil, Johanna Hamel, Leann Lewis, Katy Eichinger, Samantha LoRusso, W David Arnold, Tabitha Alexander, Matthew Yankie, Kristina Kelly, Nicholas Johnson, Brittney Holmberg, Liz Diaz, Aileen Jones, Amanda Butler, Russell J Butterfield, Sarah Moldt, Amelia Wilson, Melissa McIntyre, Kathryn Wagner, Doris Leung, Genila Bibat, Mary Yep, Nikia Stinson, Andrea Jaworek, Leo Wang, Laura Sissons-Ross, Laura Johnstone, Perry Shieh, Christy Skura, Dianne DeGuzman, Karlien Mul, Yvonne Cornelissen, Sabrina Sacconi, Luisa Villa, Angela Puma, Manuela Gambella, Ying Shi, Jeremy Garcia, Valeria A Sansone, Elena Carraro, Fatmira Beshiri, Luca Mauro, Samantha LoRusso, Nicholas E Johnson, Michael P McDermott, Katy Eichinger, Russell J Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M Statland, Rabi Tawil, ReSolve Investigators and the FSHD CTRN18, Mazen Dimachkie, Mamatha Pasnoor, Kiley Higgs, Katherine Roath, Ayla McCalley, Melissa Currence, Laura Herbelin, Rabi Tawil, Johanna Hamel, Leann Lewis, Katy Eichinger, Samantha LoRusso, W David Arnold, Tabitha Alexander, Matthew Yankie, Kristina Kelly, Nicholas Johnson, Brittney Holmberg, Liz Diaz, Aileen Jones, Amanda Butler, Russell J Butterfield, Sarah Moldt, Amelia Wilson, Melissa McIntyre, Kathryn Wagner, Doris Leung, Genila Bibat, Mary Yep, Nikia Stinson, Andrea Jaworek, Leo Wang, Laura Sissons-Ross, Laura Johnstone, Perry Shieh, Christy Skura, Dianne DeGuzman, Karlien Mul, Yvonne Cornelissen, Sabrina Sacconi, Luisa Villa, Angela Puma, Manuela Gambella, Ying Shi, Jeremy Garcia, Valeria A Sansone, Elena Carraro, Fatmira Beshiri, Luca Mauro

Abstract

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly targeted drugs move from preclinical testing into human trials, it is essential that we validate clinical trial tools and methodology to facilitate the drug development process.

Methods/design: The primary goal of this study is to hasten drug development for FSHD by validating two novel clinical outcome assessments (COAs) and refining clinical trial strategies. We will perform an 18-month longitudinal study in 220 genetically confirmed and clinically affected participants using our FSHD Clinical Trial Research Network, comprised of 8 sites in the United States, and 3 collaborating sites in Europe. Visits occur at baseline and months 3, 12, and 18. At each visit we will collect: 1) a novel FSHD functional composite COA made up of 18 evaluator-administered motor tasks in the domains of shoulder/arm, hand, core/abdominal, leg, and balance function; and 2) electrical impedance myography as a novel muscle quality biomarker (US sites). Other COAs include 1) Domain 1 of the Motor Function Measure; 2) Reachable workspace; 3) orofacial strength using the Iowa Oral Performance Instrument; 4) lean muscle mass using dual-energy X-ray absorptiometry (DEXA); 5) strength as measured by quantitative myometry and manual muscle testing; and 6) the FSHD Health Index and other patient-reported outcomes. Plasma, DNA, RNA, and serum will be collected for future biomarker studies. We will use an industry standard multi-site training plan. We will evaluate the test-retest reliability, validity, and sensitivity to disease progression, and minimal clinically important changes of our new COAs. We will assess associations between demographic and genetic factors and the rate of disease progression to inform refinement of eligibility criteria for future clinical trials.

Discussion: To the best of our knowledge, this is the largest collaborative study of patients with FSHD performed in the US and Europe. The results of this study will enable more efficient clinical trial design. During the conduct of the study, relevant data will be made available for investigators or companies pursuing novel FSHD therapeutics.

Trial registration: clinicaltrials.gov NCT03458832; Date of registration: 1/11/2018.

Keywords: Biomarkers; Clinical trial; Electrical impedance Myography; Facioscapulohumeral muscular dystrophy; Functional testing; Muscular dystrophy; Outcome measures.

Conflict of interest statement

The Reachable Workspace portion of this study was funded by Fulcrum Therapeutics.

SL has no competing interests.

NJ serves on scientific advisory boards for Cytokinetics, AveXis, AMO Pharma, and Biogen Idec; has received funding for travel and/or speaker honoraria from Strongbridge; serves as a consultant for AMO Pharma, AveXis, and Vertex Pharma; and receives research support from Ionis Pharmaceuticals, Biogen Idec, Valerion Therapeutics, Cytokinetics, Acceleron, AveXis, AMO Pharma, NIH/NINDS, FDA, Muscular Dystrophy Association, and Myotonic Dystrophy Foundation.

MPM has no competing interests.

KE has received consulting fees from Acceleron.

RJB is supported by NIH grant 1K08NS097631–01. He is receiving funding via contracts for clinical trials from PTC Therapeutics, Sarepta Therapeutics, Pfizer, and Biogen. RJB serves on scientific advisory boards for Sarepta Therapeutics and Biogen.

EC has no competing interests.

KH has no competing interests.

LL has no competing interests.

KM has no competing interests.

SS served as a consultant for Biomarin, Sanofi Genzyme, Alnylam Pharmaceuticals, Spark Therapeutic, Biotechspert and BIOGEN France.

VAS serves on Scientific Advisory Boards for Biogen, PTC, Santhera, Sarepta, Avexis. VS has received research support from the Italian Telethon and Muscular Dystrophy Association grants.

PS serves as a consultant for Avexis, Sarepta, and Biogen and has received speaker honoraria from Biogen, Alexion, Grifols, and CSL Behring.

BvE reports grants from The Marigold Foundation and personal fees and non-financial support from Fulcrum and Facio, grants from Global FSH, Stichting Spieren voor Spieren, Prinses Beatrix Spierfonds, Dutch FSHD Foundation, European Union’s Horizon 2020 research and innovation programme (Murab), Netherlands Organisation for Scientific Research (NWO), The Netherlands Organisation for Health Research and Development (ZonMw), Association Francaise contre les Myopathies.

KW served as a consultant for Sarepta, Pfizer, Wave, Fibrogen, and PTC Therapeutics.

LW has no competing interests.

JMS reports consulting work or serving on advisory boards for Fulcrum, Acceleron, Expansion, Biogen, Avexis, and Strongbridge.

RT reports consulting work for Acceleron and serving on the Fulcrum Therapeutics advisory board.

Figures

Fig. 1
Fig. 1
Title: The FSHD-CTRN Legend: The FSHD-CTRN is made up of 8 US sites, with the University of Kansas Medical Center serving as the central IRB and central coordinating center, and the University of Rochester serving as the data coordinating center. In addition, 3 collaborating sites in Europe are participating in the study, with the exception that they will not be performing EIM. Source: http://www.kumc.edu/fshd/our-sites.html
Fig. 2
Fig. 2
Electrical Impedance Myography Legend: The EIM device consists of a laptop computer connected to a portable handheld sensor

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Source: PubMed

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