Clinical trial · Observational
Genetic Evaluation of Families With Endocrine Cancers
A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers
NCT01794676CI-TRIAL-00028162MEN1completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| MEN1 Syndrome | Multiple Endocrine Neoplasia Type 1 | ALIAS | 0.90 |
| Pancreatic Cancer | Malignant Pancreatic Neoplasm | CURATED_EXACT | 0.92 |
| Parathyroid Disease | — | UNRESOLVED | — |
| Thymic Cancer | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood draw | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- label
- Family 1
- description
- Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
- interventionNames
- Genetic: Blood draw
- label
- Family 2
- description
- Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
- interventionNames
- Genetic: Blood draw
- label
- Family 3
- description
- Approximately a 10 ml of blood draw will be taken from each participant for genetic testing.
- interventionNames
- Genetic: Blood draw
Primary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 13 Years
Show eligibility criteria text
Eligibility Criteria: * Age ≥ 13 years. * A signed written informed consent * Existing patients and their family members of Investigators with MEN1 syndrome. * Willing to undergo venipuncture to obtain 10 ml of blood and complete genetic counseling and informed consent process.
References
Publications (1)
- BACKGROUND1) 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.