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Sponsored by: |
Barts & The London NHS Trust |
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Information provided by: | Barts & The London NHS Trust |
ClinicalTrials.gov Identifier: | NCT00461188 |
The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on somatotrophinomas and prolactinomas, but we wish to extend work to other pituitary tumour cases/families.
The recruitment process will be as follows.
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 |
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Acromegaly |
Study Type: | Observational |
Study Design: | Screening, Longitudinal, Defined Population, Prospective Study |
Official Title: | Genetics of Endocrine Tumours |
Estimated Enrollment: | 150 |
Study Start Date: | March 2007 |
Estimated Study Completion Date: | April 2017 |
Ages Eligible for Study: | 6 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Exclusion Criteria:
Contact: Marta Korbonits, MD PhD | 020 7882 6238 ext 6238 | m.korbonits@qmul.ac.uk |
United Kingdom | |
Royal Victoria Infirmary | Recruiting |
Newcastle upon Tyne, United Kingdom, NE1 4LP | |
Contact: Richard Quinton, MD FRCP 0191 282 4635 Richard.Quinton@nuth.nhs.uk | |
Barts and the London medical School | Recruiting |
London, United Kingdom, EC1M 6BQ | |
Contact: Marta Korbonits, MD PhD m.korbonits@qmul.ac.uk |
Principal Investigator: | Marta Korbonits, MD PhD | Barts and the London Medical School |
Study ID Numbers: | 004842 |
Study First Received: | April 16, 2007 |
Last Updated: | April 16, 2007 |
ClinicalTrials.gov Identifier: | NCT00461188 |
Health Authority: | United Kingdom: Research Ethics Committee |
acromagaly familial pituitary adenoma |
Bone Diseases, Endocrine Hypothalamic Diseases Pituitary Diseases Musculoskeletal Diseases Endocrine System Diseases Central Nervous System Diseases |
Endocrinopathy Brain Diseases Bone Diseases Adenoma Acromegaly Endocrine Gland Neoplasms |
Neoplasms Neoplasms by Site Hyperpituitarism Nervous System Diseases |