Development of Skeletal Muscle Fibers from Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

Overview

About this study

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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria - Patient:

  • Patients aged 0-100 years with clinically documented and diagnosed inherited myopathy as determined by a Mayo Clinic neurologist.
    • NOTE: Only children with a clinically diagnosed heritable myopathy are eligible to participate in this study.
  • Patients aged 0-100 years with either a known genetic mutation causative of the myopathy or predicted to be causative of the myopathy.
    • NOTE: Only children with a known genetic mutation causative or predicted to be causative of the myopathy are eligible to participate in this study.
  • Children are only eligible for this study if they themselves have a heritable myopathy either clinically documented or known/predicted through genetic testing; children are not eligible to serve as controls.
  • Adult patients with suspected hereditary myopathy on the basis of the clinical and/or muscle histopathological findings or a documented family history of myopathy.

Exclusion Criteria - Patient:

  • Adult patients with acquired non-hereditary myopathy caused by other etiologies as estimated by the Mayo Clinic neurologist.

Inclusion Criteria - Biological Family Members:

  • Adult biological family members who are clinically affected.
  • Adult biological family members who are asymptomatic but carry the same genetic variant detected in the patient and predicted to be potentially deleterious.

Exclusion Criteria - Biological Family Members:

  • Adult biological family members who are asymptomatic, clinically unaffected and who do not carry the predicted deleterious variant detected in the patient.
  • Biological relatives <18 years of age who are mutation negative and/or disease-negative will be excluded.

 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

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

Open for enrollment

Contact information:

Margherita Milone M.D., Ph.D.

(507) 266-3544

Milone.Margherita@mayo.edu

More information

Publications

Publications are currently not available