A Study to Discover and Validate Candidate Genes in Pectus Excavatum


About this study

The purpose of this study is to to genomically characterize pectus excavatum trios (proband + 2 affected family members) for the purpose of identifying candidate genes that may be causal in families with multiple pectus excavatum affected members. 

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:

  • Proband has confirmed diagnosis of pectus excavatum and has at least two affected family members with pectus excavatum.
  • Affected family members are able to complete specimen collection within 3 weeks of the proband’s sample collection.
  • Proband and affected family members are willing to provide a blood or saliva sample and watch informational video about genetic testing or meet with a genetic counselor.
  • Proband and affected family members must understand and provide written informed consent and HIPPA authorization prior to initiation of any study-specific procedures.For a pediatric patient and patient without capacity to consent for him/herself, parents or legal guardians must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
  • Participants of any age are eligible to participate.

Exclusion Criteria:

  • Affected family member unable to complete/submit specimen collection within 3 weeks from date of proband’s specimen collection date.
  • Person who does not have a confirmed diagnosis of pectus excavatum.
  • Person who is unable to or does not have a legal guardian who will take responsibility for ensuring compliance with study requirements and can provide consent on his/her behalf.
  • Affected family member participants will not be eligible for the research study if the proband declines participation.
  • Pregnancy.


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

Scottsdale/Phoenix, Ariz.

Mayo Clinic principal investigator

Dawn Jaroszewski, M.D.

Open for enrollment

Contact information:

Nalani Thomas B.S.

(480) 342-0349


More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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