A Study to Understand the Clinical Characteristics and to Identify Gene(s) and/or Protein(s) causing Amyloid Myopathy


About this study

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.

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:

  1. Presence in amyloid deposits in skeletal muscle biopsy. 
  2. Elevated CK. 
  3. Lack of monoclonal gammopathy. 
  4. Lack of symptoms and signs of systemic amyloidosis by echocardiogram and body CT. 
  5. Lack of peripheral neuropathy.

Exclusion Criteria:

  1. Presence of monoclonal gammopathy. 
  2. Signs of systemic amyloidosis by echocardiogram and body CT. 
  3. Presence of peripheral neuropathy.

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

Rochester, Minn.

Mayo Clinic principal investigator

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

Closed for enrollment

More information


Publications are currently not available

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