Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study

NCT04788927 | Not Yet Recruiting

• 1 other identifier: PPGL-Pred
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 2

Brief Summary

Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late. Approximately 50 % of the tumours are caused by germline genetic variants screening programmes are recommended for patients and their family members; however, they are not yet well-targeted with respect to individual prognosis. In this study the investigatorscaim to characterize the genotype-phenotype associations in all Danish patients (n=400) diagnosed with PPGLs who have been followed in tertiary centres using medical records and national registries. To this end novel immunohistochemical, genetic, and epigenetic biomarkers in tumour tissues samples from biobank material (blood samples and tumour tissue) will be investigated to develop a comprehensive predictive algorithm for disease prognosis. The study will provide a clinical tool for an improved targeted screening program and subsequently prevention of disease development.

Conditions

Paraganglioma; Pheochromocytoma; Genetic Predisposition to Disease; Pathology; Somatic Mutation; Head and Neck Cancer; Neuroendocrine Tumors

Keywords

Paraganglioma; Phaeochromocytoma; Clinical genetics; Pathology; Translational research

Outcome Measures

Primary Outcomes (1)

• Malignant or non-malignant disease

  Defined as metastatic disease

  25 ys (1996-2021) retrospective data collection of approximately 400 patients until death or until today.

Eligibility Criteria

• Age: 0 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Location: Nation-wide cohort of all patients followed in one of the tertiary hospitals: Copenhagen (Rigshospitalet), Århus (Skejby) and Odense University hospital. Identification: The patients will be retrieved from the National Danish Registry of Hospital Diagnoses by use of their national identification number (CPR).

You may qualify if:

• All Danish patients diagnosed with PPGLs or genetic variants that predispose to PPGLs since 1996 will be included.

You may not qualify if:

• None from the initial data collection. If there are no tumour tissue or blood samples from a patient in the biobanks they will subsequently be excluded.

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (2)

Rigshospitalet

Copenhagen, 2100, Denmark

Location

National University Hospital, Department of Medical Endocrinology

Copenhagen, DK-2100, Denmark

Location

Related Publications (20)

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• Pang Y, Liu Y, Pacak K, Yang C. Pheochromocytomas and Paragangliomas: From Genetic Diversity to Targeted Therapies. Cancers (Basel). 2019 Mar 28;11(4):436. doi: 10.3390/cancers11040436.

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• Main AM, Rossing M, Borgwardt L, Gronkaer Toft B, Rasmussen AK, Feldt-Rasmussen U. Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes. Endocr Connect. 2020 Aug;9(8):793-803. doi: 10.1530/EC-20-0279.

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• Ebbehoj A, Jacobsen SF, Trolle C, Robaczyk MG, Rasmussen AK, Feldt-Rasmussen U, Thomsen RW, Poulsen PL, Stochholm K, Sondergaard E. Pheochromocytoma in Denmark during 1977-2016: validating diagnosis codes and creating a national cohort using patterns of health registrations. Clin Epidemiol. 2018 Jun 13;10:683-695. doi: 10.2147/CLEP.S163065. eCollection 2018.

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Biospecimen

Retention: SAMPLES WITH DNA

Blood samples and tumour tissue samples from existing biobanks.

MeSH Terms

Conditions

Paraganglioma; Pheochromocytoma; Genetic Predisposition to Disease; Head and Neck Neoplasms; Neuroendocrine Tumors

Condition Hierarchy (Ancestors)

Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neoplasms by Site

Study Officials

• Ulla Feldt-Rasmussen, Prof., Dr. med.

  Rigshospitalet, Denmark

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ulla Feldt-Rasmussen, Professor

CONTACT

+45 35451023; ufeldt@rh.dk

Ailsa Maria Main, MD

CONTACT

+45 27125249; ailsa.maria.main.02@regionh.dk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor Ulla Feldt-Rasmussen

Study Record Dates

• First Submitted: March 1, 2021
• First Posted: March 9, 2021
• Study Start: October 1, 2023
• Primary Completion: April 30, 2024
• Study Completion (Estimated): September 30, 2027
• Last Updated: April 7, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

DK (2)