Genetic Evaluation of Families With Endocrine Cancers
MEN1
A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers
2 other identifiers
observational
9
1 country
1
Brief Summary
This study is being conducted to identify altered genetic factors that may exist and influence endocrine cancers in unrelated MEN1 families with different cancers. A grading system will be developed for endocrine cancers, including pancreatic cancers, thymus gland cancers, parathyroid disease and MEN1 syndrome as low-risk and high-risk to improve screening and timing of surgery.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Mar 2013
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 15, 2013
CompletedFirst Posted
Study publicly available on registry
February 20, 2013
CompletedStudy Start
First participant enrolled
March 1, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2015
CompletedStudy Completion
Last participant's last visit for all outcomes
October 1, 2015
CompletedJune 16, 2017
June 1, 2017
2.5 years
February 15, 2013
June 15, 2017
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Modified genetic factors that exist and may influence the phenotypic presentation of disease in unrelated MEN 1 families.
To identify modifying genetic factors that exist and that may influence phenotypic presentation of the disease in unrelated MEN 1 families with different clinical presentation of the disease.
Within 3 Months from blood draw
Study Arms (3)
Family 1
Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
Family 2
Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
Family 3
Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
Interventions
Eligibility Criteria
Individuals belonging to families observed with MEN1 mutation related cancers.
Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.
Sponsors & Collaborators
- Jersey Shore University Medical Centerlead
- Rutgers Universitycollaborator
- Rutgers Cancer Institute of New Jerseycollaborator
Study Sites (1)
Jersey Shore University Medical Center
Neptune City, New Jersey, 07753, United States
Related Publications (1)
1) Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome. Marini F, Falchetti A, Luzi E, Tonelli F, Maria Luisa B. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009-.2008 Jul 18 2) Multiple endocrine neoplasia. White ML, Doherty GM. Surg Oncol Clin N Am. 2008 Apr;17(2):439-59 3) Multiple endocrine neoplasia type 1 (MEN1). Thakker RV. Best Pract Res Clin Endocrinol Metab. 2010 Jun; 4) Guidelines for diagnosis and therapy of MEN type 1 and type 2. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ. J Clin Endocrinol Metab. 2001 Dec;86(12):5658-71. 5) Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV. Clin Endocrinol (Oxf). 2003 May;58(5):639-46. 6) Human Gene Mutation Database, http://www.hgmd.org/ 6) Human Gene Mutation Database, http://www.hgmd.org/ 7) Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV. Nat Clin Pract Endocrinol Metab. 2008 Jan; 8) Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ. Medicine (Baltimore). 2002 Jan;81(1):1-26. 9) Genotype-phenotype analysis in multiple endocrine neoplasia type 1. Kouvaraki MA, Lee JE, Shapiro SE, Gagel RF, Sherman SI, Sellin RV, Cote GJ, Evans DB. Arch Surg. 2002 Jun;137(6):641-7.
BACKGROUND
Biospecimen
Approximately 10 ml of blood will be drawn from each participant. Tumor samples will be obtained from any prior surgeries, if available.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Alexander Shifrin, MD
Jersey Shore University Medical Center
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Attending Endocrine Surgeon
Study Record Dates
First Submitted
February 15, 2013
First Posted
February 20, 2013
Study Start
March 1, 2013
Primary Completion
September 1, 2015
Study Completion
October 1, 2015
Last Updated
June 16, 2017
Record last verified: 2017-06
Data Sharing
- IPD Sharing
- Will not share