Margherita Milone, M.D., Ph.D.

The purpose of this study is to measure the treatment response from Efgartigimod PH20 SC compared with placebo in participants with Idiopathic Inflammatory Myopathy (IIM).  

The goal of this study is to create a repository of skin fibroblasts from patients with inherited myopathies or suspected inherited myopathies. The study will optimize the development of skeletal muscle cells from patient induced pluripotent stem cells (iPSCs) and to characterize their morphological, biochemical, electrophysiological and molecular properties. The study will also use skin fibroblasts as source of DNA to investigate for research purpose the genetic defect causing the myopathy, and test in future potentially therapeutic drugs in the iPSC-derived muscle cells.

To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.

The purpose of this study is to measure the treatment response from Efgartigimod PH20 SC compared with placebo in participants with Idiopathic Inflammatory Myopathy (IIM).  

This study proposes to identify the molecular defect in families with a clinical phenotype of “probable Inclusion Body Myositis” (“probable IBM”) but affecting  more than one family members, with or without family history of ALS.

This research is being done to help us better understand the clinical characteristics and to identify gene(s) and/or protein(s) causing these diseases. The study might contribute to the understanding of these disorders.

This research is being done to better understand how mitochondrial diseases show themselves and to find the abnormal gene(s) causing these diseases.