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, pgl@ccf.org)
NEW AS OF SEPTEMBER 22, 2011
For both Outside IRB-Approved and Non-IRB Approved Sites:
The downloads page has been updated with new forms which will be effective from September 23, 2011 until September 22, 2012. We will not accept any previous versions of these documents.
Thank you in advance!
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.
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:
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.
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.
Please be aware that we will not release the patient’s results to you until all required study documents have been completed and received.
NEW – INFORMED CONSENT PROCESS COMPLETELY CHANGED AS OF JULY 7, 2009 – VERY IMPORTANT, PLEASE READ THE FOLLOWING INFORMATION VERY CAREFULLY AND CONTACT RESEARCH STAFF WITH QUESTIONS!
Outside IRB approved sites: At present, the few institutions who have put our protocol through their institution’s IRB may provide informed consent for patients at their facility. These sites will be receiving our informed consent document once the approval process has been completed 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.
IMPORTANT UPDATE EFFECTIVE 12/10/09
MATERIAL TRANSFER AGREEMENT
Each institution seeking IRB appproval must submit a completed Material Transfer Agreement prior to sample shipment for any new research patients. To download the form, please click here. Please follow the following instructions for the agreement.
1. Print out two copies of the MTA.
2. For each printed MTA, complete the following information:
a) In the opening paragraph, fill in the Provider's legal name and place of business; and
b) On the final page, please have the appropriate legal representative of the Provider sign and date both originals of the agreement.
3. Send both signed originals of the MTA to:
Genomic Medicine Institute
The Cleveland Clinic
9500 Euclid Avenue, Desk NE-5
Cleveland, OH 44195
Attn: Dawn Caraballo
Everyone else:
Informed consent must be performed by a member of our research staff before the patient’s blood sample is obtained. Contrary to what has been acceptable in the past, it is no longer possible for you to sign and date where indicated for “Person Obtaining Consent” for your patients. There is no longer an option to have a patient consented during a scheduled office visit. Samples received without a properly completed informed consent document and other required study paperwork may be destroyed. If you would like to become an approved site, which would enable you to consent patients for this and all other studies under this research protocol, please contact us at (216) 445-7869.
After you recognize that the patient qualifies for our study, please complete the following and send to us by fax or postal mail:
1. Permission to contact form (must be signed by patient)
2. CCF release form
3. Banking checklist
4. SDH Clinical features checklist
5. Pedigree
6. Requested medical records (see clinical features checklist) available to you
To download the first four items, please click here.
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 completed, we 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.
Required Forms and other Helpful Information:
• For all required documents, please click here.
• International Collaborators: Please email pgl@ccf.org for special shipping instructions.
Lerner Research Institute
Cleveland Clinic, Mail Code NB21
9500 Euclid Avenue
Cleveland, Ohio 44195
