Investigator: Michael Kyba PhD
Category: Research - Clinical
How the funds will be used
We will draw on these funds to reimburse individuals for who need to travel to participate in our clinical studies on FSHD, as well as to provide a small remuneration in view of incidental costs incurred by all participants. Funds will be provided for both gas and/or overnight hotel. The Graduate Hotel, on the University of Minnesota Campus, situated across the street from the entrance to the complex housing the MD clinic, typically costs about $150 per night. This proximity is very helpful to the study participants, as we schedule the exercise/metabolism component to start at 8 am, in order for the biopsy component to be performed on the same day. We may consider covering up to $250 for airfare.
We anticipate enrolling 40 study participants over two years. We expect about half of these to have gas or hotel costs. Except for the $75 for incidental costs, reimbursement will be for expenditures documented with receipts, and be limited to $150 for hotel and $200 for travel ($250 if for airfare). Funds not spent will be returned to Friends of FSH Research, or (if the study is still ongoing after two years) a no-cost extension will be requested.
How the expenditure will support research into a cure for FSHD
We currently have two ongoing, IRB-approved clinical studies: Metabolic Rate and Exercise Tolerance in Adults with Facioscapulohumeral Muscular Dystrophy (Manda Keller-Ross, PI) and Tissue Biopsies for the Study of FSHD (Michael Kyba, PI). The first study is motivated in part by the metabolic phenotype observed in both of our DUX4-inducible mouse models (Bosnakovski et al., 2017; Dandapat et al., 2014) as well as the dearth of data on exercise tolerance in FSHD, and the second by ongoing work in the Kyba lab on pathophysiology of FSHD.
In the first study, metabolic rate is measured at rest as well as during exercise on a recumbent exercise bicycle through indirect calorimetry by measuring gas exchange (oxygen consumed and carbon dioxide produced). This information will provide a better picture of the metabolism and physiology of patients with FSHD, as well as determine to what extent patients’ ability to exercise is intrinsically limited.
In the second study, patients provide up to 4 biospecimens: urine, blood, skin biopsy, and muscle biopsy. While our principal objective is to study the cells of muscle with a view towards understanding the pathophysiology of FSHD, i.e. understanding why the muscle is degenerating and developing a better cytological picture of degenerating muscle, we also use skin biopsies to derive cell lines for generation of induced pluripotent stem cells, the subject of ongoing research in my laboratory involving genetic correction of FSHD and the investigation of potential cell therapies, as well as blood and urine for investigation of surrogate markers for disease. This information will give us a better understanding of the disease process, provide material for the study of genetic correction of the FSHD locus, and hopefully identify new or validate known surrogate markers for disease.
Bosnakovski, D., Chan, S.S.K., Recht, O.O., Hartweck, L.M., Gustafson, C.J., Athman, L.L., Lowe, D.A., and Kyba, M. (2017). Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model. Nature communications 8, 550.
Dandapat, A., Bosnakovski, D., Hartweck, L.M., Arpke, R.W., Baltgalvis, K.A., Vang, D., Baik, J., Darabi, R., Perlingeiro, R.C., Hamra, F.K., et al. (2014). Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene. Cell Rep 8, 1484-1496.
Grant extension approved.