Clinical Trials

Inclusion Criteria - Arm 1:

• 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 HIPAA 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 - Arm 1:

• 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.

Inclusion Criteria - Arm 2:

• Unaffected family members (parents and/or siblings) of proband from Arm 1 who are willing to provide a blood or saliva sample and watch an informational video about genetic testing or meet with a genetic counselor.
• Unaffected family members must understand and provide written informed consent and HIPAA 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 - Arm 2:

• Person who has 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.
•  Pregnancy.

Inclusion Criteria - Arm 3:

• Person with pectus excavatum without a known family history of pectus excavatum who is willing to provide a blood or saliva sample and watch an informational video about genetic testing or meet with a genetic counselor.
• Person with pectus excavatum without a known family history of pectus excavatum must understand and provide written informed consent and HIPAA 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 - Arm 3:

• 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.
• Pregnancy.
• Non-Mayo Clinic patients.