A Study to Evaluate Single DNA Molecule Optical Imaging to Diagnose Facioscapulohumeral Muscular Dystrophy (FSHD)


About this study

The purpose of this study is to evaluate a novel direct single DNA molecule optical imaging system (Bionano) for the FSHD diagnosis.

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:

  • Patients with confirmed Facioscapulohumeral muscular dystrophy (FSHD) diagnosis with conventional genetic testing.
  • Patients with clinically suspected FSHD but with inconclusive conventional genetic testing result or negative conventional genetic testing for FSHD and FSHD mimickers.
  • 20 De-identified reference samples at Genomic Laboratories to test specimen types.

Exclusion Criteria:

  • Patients with genetically characterized muscle disease different than FSHD.   


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

Zhiyv Niu, Ph.D.

Open for enrollment

Contact information:

Zhiyv Niu Ph.D.

(507) 293-1758


More information


Publications are currently not available