A Study Of Skin Tightness In Myhre Syndrome

Overview

About this study

The purpose of this study is to establish a standardized and objective approach to assess skin tightness in Myhre syndrome by applying high‑frequency skin ultrasound and shear‑wave elastography (SWE) protocol adapted from protocols validated in systemic sclerosis (SSc) given the resemblance in cutaneous manifestations.

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:

  • Adult patients with confirmed genetic diagnosis of Myhre syndrome (SMAD4 pathogenic variant)

  • Ability to attend both study visits

  • Ability to provide informed consent

Exclusion Criteria:

  • Inability to provide informed consent

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 05/07/2026. Questions regarding updates should be directed to the study team contact.

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

Nessa Aghazadeh Mohandesi, M.D.

Open for enrollment

More information

Publications

Publications are currently not available

Additional contact information

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Phone: 800-664-4542 (toll-free)

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