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Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

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ClinicalTrials.gov Identifier: NCT00461188
Recruitment Status : Recruiting
First Posted : April 17, 2007
Last Update Posted : October 18, 2022
Information provided by (Responsible Party):
Barts & The London NHS Trust

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. 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. The Consultant looking after the patient will contact the patient to initially inform him/her of the study.
  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. 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. 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).

8. Archival tissue will be obtained from HTA licensed tissue banks. This is an established bank whose licence is primarily for diagnosis but can be used for research. 9. We will undertake laboratory work, such as genetic linkage analysis, candidate gene mutation screening and studies of loss of heterozygosity in tumours, to identify the genes predisposing to the condition, such as the AIP gene. In addition we would like to screen other genes related to the chaperon AIP molecule, such as AhR, and other genes currently identified (PDE4A5, survivin and Tom20 protein) or may not been identified.

Blood samples for DNA and RNA will coded with unique ID numbers. Pituitary and other endocrine tumour samples will be collected at surgery and kept in liquid nitrogen or -80 C. They will be coded with unique ID numbers. Candidate gene sequencing will be performed in the Barts and the London Medical School Genome Centre.

RNA expression studies from blood or adenoma tissue samples will be performed by RT-PCR. Protein expression studies will be performed by Western blotting or immunohistochemistry. The first gene we wish to study causes familial acromegaly, a disease resulting from a pituitary adenoma secreting growth hormone.

To establish if the candidate gene is also causing possibly sporadic (not familial) cases of the disease, samples (blood and tissue) will be collected from patients with sporadic disease and will be analysed as above.

Condition or disease
Acromegaly Gigantism Familial Isolated Pituitary Adenoma FIPA Pituitary Adenoma Predisposition PAP

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
Study Start Date : March 2007
Estimated Primary Completion Date : April 2099
Estimated Study Completion Date : April 2099

Biospecimen Retention:   Samples With DNA
DNA sample, tissue sample

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
pituitary disease patients

Inclusion Criteria:

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

Exclusion Criteria:

  • Do not consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00461188

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Contact: Marta Korbonits, MD PhD 020 7882 6238 ext 6238 m.korbonits@qmul.ac.uk

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United Kingdom
Barts and the London medical School Recruiting
London, United Kingdom, EC1M 6BQ
Contact: Marta Korbonits, MD PhD       m.korbonits@qmul.ac.uk   
Royal Victoria Infirmary Recruiting
Newcastle upon Tyne, United Kingdom, NE1 4LP
Contact: Richard Quinton, MD FRCP    0191 282 4635    Richard.Quinton@nuth.nhs.uk   
Sponsors and Collaborators
Barts & The London NHS Trust
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Principal Investigator: Marta Korbonits, MD PhD Barts and the London Medical School
  Study Documents (Full-Text)

Documents provided by Barts & The London NHS Trust:
Study Protocol  [PDF] March 3, 2021

Additional Information:
Publications of Results:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Barts & The London NHS Trust
ClinicalTrials.gov Identifier: NCT00461188    
Other Study ID Numbers: 004842
First Posted: April 17, 2007    Key Record Dates
Last Update Posted: October 18, 2022
Last Verified: July 2016
Keywords provided by Barts & The London NHS Trust:
familial pituitary adenoma
Familial acromegaly
Familial Isolated Pituitary Adenoma
Pituitary adenoma predisposition
Additional relevant MeSH terms:
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Pituitary Neoplasms
Endocrine Gland Neoplasms
Pituitary Diseases
Disease Susceptibility
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Endocrine System Diseases
Bone Diseases, Endocrine
Bone Diseases
Musculoskeletal Diseases
Disease Attributes
Pathologic Processes
Neoplasms by Site
Hypothalamic Neoplasms
Supratentorial Neoplasms
Brain Neoplasms
Central Nervous System Neoplasms
Nervous System Neoplasms
Bone Diseases, Developmental