MDACC Study Summary LAB02-518

Study Summary
No. LAB02-518:.......Endocrine......Nancy D. Perrier......Surgical Oncology

Study Summary Title



Study Summary Number:	LAB02-518

Study Title:	Clinical and Predictive Genetic Testing for Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome

Physician

New Patient Referral



Name:	Nancy D. Perrier	Patients Call:	800-392-1611 (in U.S.A.) 713-792-6161 (outside U.S.A.)

Dept:	Surgical Oncology	Referring MD Call:	800-392-1611 (in U.S.A.) 713-792-6161 (outside U.S.A.)

Phone:	713-794-1345 Contact us about clinical trials

General Information



Disease Group:	Endocrine	Supported By:	Department of Surgical Oncology

Phase of Study:	N/A	Return Visit:	Patients who wish to learn the results of genetic testing will return to MDACC for a single visit for genetic counseling and test result disclosure.

Treatment Agents:	None	Home Care:	N/A

Treatment Loc:	Only at MDACC

Estimated Length of Stay in Houston:	N/A


Description/ Intervention:	Unavailable

Study Objectives / Outcomes

1. To identify specific mutations of MEN1 gen in the DNA of patients with proven or highly suspicious multiple endocrine neoplasia type 1 (MEN1).

2. To determine the molecular basis and extent of genotype-phenotype correlation of MEN1. At present, most unrelated MEN1 kindreds have unique mutations, suggesting that few mutation "hotspots" exist in the MEN1 gene. This study will identify the frequency of mutations by exon location as well as the prevalence of shared genotypes across kindreds.

3. To confirm or rule out the MEN1 diagnosis in patients with a component of the disease, but who do not fully meet the clinical diagnostic criteria for MEN1, thereby allowing for appropriate screening and treatment of all involved endocrine systems in the patient and facilitating genetic screening in their at-risk relatives.

4. To identify specific mutations of the MEN1 gene in the DNA of members of families with known MEN1 mutations.

Study Status Information



Study Activation / Registration Date:	01/10/2003

IRB Review and Approval Date:	12/04/2002

Study Type:	Not Applicable

Recruitment Status:	Open

Projected Accrual:	N/A

Enrollment Eligibility

If you do not meet the enrollment eligibility, there may be other treatment options for you. Please Contact the Referral Office for more information.

Inclusion Criteria:

1) Clinically affected subjects must satisfy two requirements: 1. Be a registered patient at M.D. Anderson Cancer Center 2. Have a clinical diagnosis of MEN1 or atypical MEN1 or have a strong clinical suspicion of MEN1 based on disease presentation.

2) At risk subjects undergoing pre-sysmptomatic genetic screening must satisfy three requirements: 1. Be an at-risk blood relative of a registered patient at M.D. Anderson Cancer Center with a known MEN1 mutation (previously identified) 2. Be at least 5 years old at the time of sample collection*

Exclusion Criteria:

1) Symptomatic individuals who do not satisfy both requirements in the inclusion criteria.

2) At-risk individuals undergoing pre-symptomatic testing who do not satisfy all three requirements in the inclusion criteria.

Links

Registration Number: Not Registered