Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

NCT00461188 | Recruiting

• 1 other identifier: 004842
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 3

Brief Summary

The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours (prolactinomas), but we wish to extend work to other pituitary tumour cases/families. The recruitment process will be as follows.

1. 1.We will recruit patients from our own Endocrine outpatient clinics and inpatient wards. In addition we will ask colleagues in other Endocrinology Departments (or other specialties such as Clinical Genetics,Pathology, General Medicine ) to identify potentially suitable patients with endocrine \& pituitary tumours from their records. We shall focus on patients with good evidence of inheritance of their condition: relatively early onset; or multiple lesions; or other affected family members. Conditions where the predisposing genes have been identified (principally MEN) will be excluded from study. Patients directly contacting us can also enter the study.
2. 2.The Consultant looking after the patient will contact the patient to initially inform him/her of the study.
3. 3.We will then contact the patient (generally by telephone) to discuss the study and what it would entail in terms of information and samples.
4. 4.Subject to agreement in (3), patient will receive 'Information Sheet for patients with pituitary tumour' and 'Consent Form' and will have blood sampling in Consultant's clinic.
5. 5.We will contact additional family members (if appropriate) after an initial approach by the family member already recruited to the study. The additional family members may have developed tumours similar to those of the proband, or may be unaffected individuals who provide useful information for gene identification purposes (for example, spouses may greatly aid the power of gene mapping by linkage. They will receive the "Information Sheet for family members". analysis).

Conditions

Acromegaly; Gigantism; Familial Isolated Pituitary Adenoma; FIPA; Pituitary Adenoma Predisposition; PAP

Keywords

acromegaly; gigantism; familial pituitary adenoma; Familial acromegaly; Familial Isolated Pituitary Adenoma; FIPA; Pituitary adenoma predisposition; PAP

Outcome Measures

Primary Outcomes (2)

• germline mutation assessment

  in selected patient targeted sequencing

  10 years

• SNP genotyping assessment

  for all affected subjects

  10 years

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

pituitary disease patients

You may qualify if:

• Familial acromegaly or other type of pituitary tumour OR
• Early onset acromegaly or
• Sporadic pituitary tumour

You may not qualify if:

• Do not consent

Sponsors & Collaborators

• Barts & The London NHS Trust: lead

Study Sites (3)

Leicester Infirmary

Leicester, United Kingdom

RECRUITING

Barts and the London medical School

London, EC1M 6BQ, United Kingdom

RECRUITING

Royal Victoria Infirmary

Newcastle upon Tyne, NE1 4LP, United Kingdom

RECRUITING

Related Publications (7)

• Hernandez-Ramirez LC, Gabrovska P, Denes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869.

  PMID: 26186299 BACKGROUND

• Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernandez-Ramirez LC, Kapur S, Caimari F, Evanson J, Ferrau F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramirez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.

  PMID: 27245663 BACKGROUND

• Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernandez-Ramirez LC, Holland A, Samuels J, Aflorei ED, Barry S, Denes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterlander M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M. Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4.

  PMID: 27650164 BACKGROUND

• Caimari F, Hernandez-Ramirez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium. Risk category system to identify pituitary adenoma patients with AIP mutations. J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10.

  PMID: 29440248 BACKGROUND

• Marques P, Caimari F, Hernandez-Ramirez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M; FIPA Consortium. Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors. J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2247-60. doi: 10.1210/clinem/dgaa040.

  PMID: 31996917 BACKGROUND

• Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M. AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med. 2011 Jan 6;364(1):43-50. doi: 10.1056/NEJMoa1008020.

  PMID: 21208107 RESULT

• Hernandez-Ramirez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, Iacovazzo D, D'Acquisto F, Prodromou C, Korbonits M. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. J Clin Endocrinol Metab. 2016 Aug;101(8):3144-54. doi: 10.1210/jc.2016-1307. Epub 2016 Jun 2.

  PMID: 27253664 DERIVED

Related Links

• This website describes the main characteristics of Familial Isolated Pituitary Adenoma (FIPA)

Biospecimen

Retention: SAMPLES WITH DNA

DNA sample, tissue sample

MeSH Terms

Conditions

Acromegaly; Gigantism; Pituitary Adenoma, Familial Isolated

Condition Hierarchy (Ancestors)

Bone Diseases, Endocrine; Bone Diseases; Musculoskeletal Diseases; Hyperpituitarism; Pituitary Diseases; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Endocrine System Diseases; Bone Diseases, Developmental

Study Officials

• Marta Korbonits, MD PhD

  Barts and the London Medical School

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marta Korbonits, MD PhD

CONTACT

020 7882 6238; m.korbonits@qmul.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 16, 2007
• First Posted: April 17, 2007
• Study Start: March 1, 2007
• Primary Completion (Estimated): December 31, 2037
• Study Completion (Estimated): December 31, 2037
• Last Updated: May 9, 2025

Record last verified: 2025-05

Locations

GB (3)