Genomic Testing and Resulting Medical Decisions

The Use of Genomic Testing and the Resulting Medical Decisions According to Target Identification

There is no evidence available about which molecular profiling methods are currently used for cancer patients in Austrian clinical practice. The construction of the registry proposed as a completely independent research endeavor, will be helpful for scientific evaluation and the establishment of highly credible data.

Study Overview

• Status: Recruiting
• Conditions: Hematologic Neoplasms; Cancer Head Neck; Cancer, Breast; Cancer of Stomach; Cancer of Unknown Origin; Cancer Colorectal; Cancer, Lung; Cancer of Skin; Cancer of Esophagus; Cancer Refractory; Cancer, Bladder; Cancer, Uterus; Cancer Cervix; Cancer Liver; Cancer, Kidney
• Intervention / Treatment: Other: Genomic testing

Detailed Description

In the situation of enormous possible beneficial options for patients, health care systems, researchers and companies and the simultaneously present high number of uncertainties, the establishment of an independent registry for patients undergoing any type of comprehensive genomic profiling offers many advantages.

In particular, an overview of the speed of development, the "market penetration", the use of the technology in specific indications (tumor types, stages and in specific situations of unresponsiveness to certain drugs), the frequency by which treatment decisions will definitely follow the result of comprehensive genomic profiling and the reasons for this, the treatment outcome of such patients, the platform technologies applied (in-house (which types), vs. commercial) and the development of these parameters over time and in relation to the development of novel drugs will be analyzed.

The registry proposes to cover the time period from the years 2016 to 2019, which will allow for assessment of both the current and emerging landscape of genomic/molecular testing practice in Austria and effect of molecular profiling on patient care and outcome.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Richard Greil, MD; Phone Number: 25801 +43577255; Email: r.greil@salk.at

Study Locations

• Austria
  • Feldkirch, Austria, 6807
    • Recruiting
    • Innere Medizin II, LKH Feldkirch
    • Contact: Thomas Winder, MD
  • Graz, Austria, A-8036
    • Recruiting
    • Medizinische Universitaet Graz, Univ.-Klinik f. Innere Medizin, Onkologie
    • Contact: Armin Gerger, MD
  • Innsbruck, Austria, 6020
    • Recruiting
    • Medizinische Universität Innsbruck
    • Contact: Andreas Seeber, MD
  • Krems an der Donau, Austria, 6500
    • Recruiting
    • Universitätsklinikum Krems
    • Contact: Martin Pecherstorfer, MD
  • Linz, Austria, A-4020
    • Recruiting
    • BHS Linz: Interne I: Internistische Onkologie, Hämatologie und Gastroenterologie
    • Contact: Andreas Petzer, MD
  • Salzburg, Austria, 5020
    • Recruiting
    • IIIrd Medical Department, Private Medical University Hospital Salzburg
    • Contact: Richard Greil, MD
  • St. Pölten, Austria, 3100
    • Recruiting
    • Universitätsklinikum St. Pölten
    • Contact: Petra Pichler, MD
  • Vöcklabruck, Austria, 4840
    • Recruiting
    • Salzkammergut-Klinikum Vöcklabruck
    • Contact: Klaus Wilthoner, MD
  • Wels, Austria, 4600
    • Recruiting
    • Klinikum Wels-Grieskirchen GmbH
    • Contact: Sonja Heibl, MD
  • Wien, Austria, 1090
    • Recruiting
    • Medizinische Universität Wien
    • Contact: Christian Singer, MD
  • Zams, Austria, 6511
    • Recruiting
    • St. Vinzenz Krankenhaus Betriebs GmbH
    • Contact: Edward Wöll, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

A cohort of oncology patients who received or plan to receive comprehensive genomic testing anytime on or after January 1, 2016. Patient medical, testing and treatment information will be obtained through extraction of data from existing patient medical charts. Longitudinal follow-up data, including survival and tumor progression, will also be extracted from patient medical charts. This patient follow-up data will be obtained until patient death or loss to follow-up.

Description

Inclusion Criteria:

This registry will include cancer patients for which broad genomic profiling is indicated as assessed by the medical need and as deemed appropriate by the physician, for example

• cancer with high mutational load and suspicion of regular or frequent formation of neoantigens

  • skin, lung, stomach, esophagus, colorectum, bladder, uterus, cervix, liver, head and neck, kidney, breast
  • lymphoma B-cell
• any other neoplastic disease where molecular targeting is performed but treatment fails
• cancer of unknown primary origin (CUP)
• planned or already carried out comprehensive genomic testing as of Jan 1, 2016 note: this registry will not initially register patients who are tested for only 1-5 mutations by conventional means, but patients undergoing genomic profiling based on NGS)
• a patient´s signed informed consent
• Patients ≥ 18 years of age

Exclusion Criteria:

• Due to the non-interventional design of the registry there are no specific exclusion criteria.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Types of:molecular profiling methods	To describe types of:molecular profiling methods used in the Austrian registry centres	3 years
Types of cancer, for which comprehensive molecular profiling is used	To describe types of cancer, for which comprehensive molecular profiling is used	3 years
Timing of molecular profiling	To describe the timing of molecular profiling in relation to stage of the disease (e.g. at diagnosis, after surgery, radiation therapy, after first/second/third/late line)	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with mutations identified	To describe targets identified: number of patients with at least one mutation identified; number of patients with at least one druggable target identified; number of patients with more than one druggable targets identified; number of druggable targets per cancer type	3 years
Quality standards	To describe tests used and quality standards: to compare results of NGS based molecular test systems with single marker tests or small gene panel tests; quality standards of the test methods used (TAT, certification status); to evaluate development of methods used over time; usage of commercial testing vs. in-house testing, platforms used, and number of genes as well as gene size analyzed (eg whole exome with or without selected intron sequencing vs. hot spot exome sequencing)	3 years
Treatment decisions	To describe treatment decisions: frequency by which treatment decision follows the result of NGS testing; frequency with druggable targets with available on-label therapy option; treatment decisions in the presence of more than one druggable target	3 years
Outcome of treatment	To describe outcome of treatment in patients receiving therapy in concordance with the test result	3 years

Collaborators and Investigators

• Sponsor: Arbeitsgemeinschaft medikamentoese Tumortherapie
• Collaborators: Roche Pharma AG; AstraZeneca
• Investigators: Principal Investigator: Richard Greil, MD, IIIrd Medical Department, Private Medical University Hospital Salzburg

Publications and helpful links

General Publications

• Heregger R, Huemer F, Hutarew G, Hecht S, Cheveresan L, Kotzot D, Schamschula E, Rinnerthaler G, Melchardt T, Weiss L, Greil R. Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature. ESMO Open. 2021 Aug;6(4):100233. doi: 10.1016/j.esmoop.2021.100233. Epub 2021 Aug 7.

Study record dates

Study Major Dates

• Study Start (Actual): March 30, 2017
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: September 22, 2017
• First Submitted That Met QC Criteria: October 3, 2017
• First Posted (Actual): October 4, 2017

Study Record Updates

• Last Update Posted (Estimated): February 29, 2024
• Last Update Submitted That Met QC Criteria: February 28, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Skin Diseases; Respiratory Tract Diseases; Neoplasms; Lung Diseases; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Kidney Diseases; Urologic Diseases; Urinary Bladder Diseases; Genital Neoplasms, Female; Uterine Diseases; Hematologic Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Stomach Diseases; Breast Diseases; Respiratory Tract Neoplasms; Thoracic Neoplasms; Esophageal Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genital Diseases; Genital Diseases, Female; Kidney Neoplasms; Stomach Neoplasms; Breast Neoplasms; Head and Neck Neoplasms; Hematologic Neoplasms; Lung Neoplasms; Urinary Bladder Neoplasms; Skin Neoplasms; Esophageal Neoplasms; Uterine Neoplasms
• Other Study ID Numbers: AGMT_NGS-Registry

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No