Genetics of Pheochromocytoma and Paraganglioma

  • Title of Study: Genetics of Pheochromocytoma and Paraganglioma
  • Nicknames: The SDHx study, Hereditary Paraganglioma study
  • Principal Investigator: Charis Eng, MD, PhD, FACP
  • Genetic Counselor Coordinator and Study Contact: Jessica Moline, MS (email: pgl@ccf.org)

IMPORTANT UPDATES

9/24/2012: New website format!
We have recently reformatted our study website; please click on the tabs below to find relevant information. No major content was changed from our previous website, with the exception of a new section titled "Information for Current or Potential Participants", which contains information for patients enrolled or considering enrollment in our study. We hope you enjoy the new format as much as we do. Please email pgl@ccf.org with any questions or comments about these changes.

Eligibility Criteria:
Patients may not self-enroll in this study; enrollment must be facilitated by a health care provider (genetic counselor, doctor, nurse, etc.).

Patients with the following will automatically qualify for study participation:

  • At least one pheochromocytoma or paraganglioma
  • Clinical or molecular exclusion of Multiple Endocrine Neoplasia type 2 and von Hippel-Lindau syndrome

We will also accept any patient with a known SDHB, SDHC, or SDHD gene mutation or variant of uncertain significance, even if they do not meet the above criteria.

If you have questions about eligibility, please e-mail or fax (216-636-0009 or 216-445-6935) the patient's pedigree and a clinical summary to the GC coordinator.

This is the enrollment process for most providers. Informed consent must be performed by a member of our research staff before the patient's blood sample is obtained. After you recognize that the patient qualifies for our study, please complete the following and send to us by fax or postal mail. To download the first four items, please click here.

  • Permission to contact form (must be signed by patient)
  • CCF release form (must be signed by patient)
  • Banking checklist
  • Clinical features checklist
  • Pedigree
  • Requested medical records (see Clinical features checklist)

Please do not draw the patient's blood to send with these documents. After we have received these documents and verified that all information is complete, our staff will mail the patient a consent document and sample collection kit and contact the subject to consent them. We will email you after we have consented the patient to keep you updated on their involvement. Samples received before the informed consent process has been completed may be destroyed.

If you are interested in becoming an IRB-approved site, which would grant you the ability to complete the informed consent process for your patients, please email pgl@ccf.org.

At present, the few institutions that have put our protocol through their institution's IRB may provide informed consent for patients at their facility. These sites have already received our informed consent document and may request additional copies by calling (216) 445-7869. If you are from an approved site, please click here for detailed instructions regarding the proper way to complete the informed consent document and other required study paperwork. Failure to complete this paperwork as described may result in the destruction of the patient's sample.

Brief Description of Study:

We are enrolling patients with pheochromocytoma and paraganglioma to study succinate dehydrogenase genes SDHB, SDHC, and SDHD. MEN 2A and VHL must be ruled-out through molecular testing or clinical assessment. We are also interested in enrolling patients who have a known SDHB, SDHC, or SDHD mutation even if they have not developed pheochromocytoma or paraganglioma. Mutation and deletion analyses are performed on the SDHB, SDHC, and SDHD genes.

Methodology:

All samples undergo mutation scanning of the coding regions and exon/intron boundaries and MLPA of each exon of the succinate dehydrogenase genes: SDHB, SDHC, and SDHD. When an abnormality is noted on mutation scanning, sequencing of the section in question is performed to determine the exact nature of the abnormality. MLPA abnormalities are confirmed via quantitative PCR. Turn-around time for mutation scanning averages 3-6 months, but may be longer dependent on lab workload. We are currently unable to estimate the turn-around time for MLPA results, but hope to have these results available within 12 months after the release of the mutation scanning results.

Results:
Clinically relevant results are provided via confidential e-mail to the referring healthcare provider. Per our institutional IRB requirements, the exact nomenclature cannot be disclosed. However, if a deleterious mutation is identified, we can share the exact mutation nomenclature with the clinical lab of your choice for site-specific analysis. At present site-specific MLPA analysis is not clinically available, but we are happy to share abnormal MLPA results with the clinical lab of your choice as well.

Required Documents

This downloads page has been updated with new forms which will be effective from September 23, 2013 until September 22, 2014. We will not accept any previous versions of these documents.

For non-approved outside sites to send to CCF to have a patient consented:
Enrollment Documents: Non-IRB Approved, Pedigree, and Requested medical records available to you.

For our Spanish speaking patients:
icon Permission to Contact (Spanish)
iconCCF Release Form (Spanish)

For IRB-approved outside sites: All required consenting documents will be sent to you individually by our research coordinator. Along with those documents, please complete and send the following:
icon Enrollment Documents: IRB Approved

Please also see the following:
icon Informed Consent Instructions
icon Specimen and Shipping Instructions

icon Material Transfer Form