Actively Recruiting

Age: 6Years +
All Genders
ID00461188

Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

Led by Barts & The London NHS Trust · Updated on 2026-05-20

10000

Participants Needed

3

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying genes that may increase the risk of endocrine tumors, focusing primarily on pituitary adenomas such as growth hormone-secreting tumors (somatotrophinomas) and prolactinomas. The study aims to identify and understand the role of genes like AIP and related molecules in familial and sporadic pituitary tumors. The goal is to learn how these genes contribute to tumor development and to extend findings to other pituitary-related conditions. Participants will be recruited from endocrine clinics and other medical departments, especially those with inherited conditions indicated by early onset, multiple tumors, or affected family members. Blood samples and tumor tissue will be collected for genetic and protein studies. The research includes analysis of gene mutations, RNA expression, and protein levels using methods such as gene sequencing, RT-PCR, Western blotting, and immunohistochemistry. Participants will provide blood and, when applicable, tumor samples, which will be coded for privacy. Researchers will analyze these samples over a 10-year period for germline mutations and genetic markers. Family members may also be invited to participate to help identify inherited gene patterns. The study involves ongoing genetic assessments and monitoring to better understand endocrine tumor predisposition and gene function.

CONDITIONS

Brief Title

Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

Who Can Participate

Age: 6Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Familial acromegaly or another type of pituitary tumor
  • Early onset acromegaly
  • Sporadic pituitary tumor
  • Participants aged 6 years or older
  • Ability and willingness to consent to the study
Not Eligible

You will not qualify if you...

  • Do not consent to participate in the study

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

1
2
3
+1

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Initial assessments with ongoing sample collection over several years

Participants provide blood samples for genetic and molecular analysis to study genes related to pituitary tumours.

1 or more visits for blood sample collection depending on participant status

Long-term Monitoring

Duration - Up to 10 years

Participants are observed over time to assess genetic markers and disease progression related to pituitary tumours.

Periodic follow-up visits for genetic assessment and monitoring

Trial Site Locations

Total: 3 locations

1

Leicester Infirmary

Leicester, United Kingdom

Actively Recruiting

2

Barts and the London medical School

London, United Kingdom, EC1M 6BQ

Actively Recruiting

3

Royal Victoria Infirmary

Newcastle upon Tyne, United Kingdom, NE1 4LP

Actively Recruiting

Loading map...

Research Team

M

Marta Korbonits, MD PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

Similar Trials

Frequently Asked Questions

Have more questions? Get in touch with our team for quick support

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here

Published Research Related To This Trial

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Laura C Hernández-Ramírez, Plamena Gabrovska, Judit Dénes...

https://pubmed.ncbi.nlm.nih.gov/26186299

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Donato Iacovazzo, Richard Caswell, Benjamin Bunce...

https://pubmed.ncbi.nlm.nih.gov/27245663

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.

Pedro Marques, Francisca Caimari, Laura C Hernández-Ramírez...

https://pubmed.ncbi.nlm.nih.gov/31996917

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

Laura C Hernández-Ramírez, Federico Martucci, Rhodri M L Morgan...

https://pubmed.ncbi.nlm.nih.gov/27253664