Rare Diseases

All Conditions

Crouzon Syndrome

Jackson-Weiss Syndrome

Pfeiffer Syndrome

* Data collection from the medical file
* Quality of life questionnaire (QLQC30) at inclusion, at each change of treatment and then every 6 months

Data collection and quality of life questionnaire

Julien Bollard

Alexandra BIETTE

Andreas LEITNER

Thomas BRODOWICZ

Jana Halámková

Ninna Aggerholm

Loic CHAIGNEAU

Antoine ITALIANO

Alice HERVIEU

Nicolas PENEL

Valérie LE BRUN LY

Alexandra Biette

Jean-Yves BLAY, Pr

Marie Eve GARCIA

Esma SAADA-BOUZID

Sarah WATSON

Jean-Philippe SPANO

Pascaline BOUDOU-ROUQUETTE

Jean-Pierre LOTZ

Cécile GUILLEMET

Thibaud VALENTIN

Manfred WELSLAU

Jalid SEHOULI

Mathias HANEL

Jorg TROJAN

Haifa Kathrin Al-Ali

Marino Venerito

Bernd KASPER

Volker HEINEMANN

Hans-Heinrich WOLF

Constantin Roder

Volker KUNZMANN

Maria Abbondenza PANTALEO

Toni IBRAHIM

Marica EOLI

Alice BERGAMINI

Mario GIULIANO

Riccardo SOFFIETTI

Ellen KAPITEIJN

Iwona LUGOWSKA

Mojca UNK

Javier MARTIN-BROTO

Robin JONES

John BRIDGEWATER

This registry will make it possible to describe real life management of patients with rare actionable fusions and to better understand these cancers. In addition of clinical data from the medical files, a quality of life questionnaire (QLQ-C30) will be complete at inclusion, at each new treatment and then every 6 months. The patients will be followed for a period of at least 2 years after the inclusion.

This TRacKING registry is a European collaborative tool to improve the management of patients with actionable fusions, by sharing of data from rare tumor indications.

1. Administrative opening of the center
2. Routine identification of a patients harboring a rare actionable fusion
3. Patient's inclusion

   * Signature of written informed consent,
   * Declaration by the physician to the coordinating center (using the "Physician declaration" form)
   * Completion of the QLQ-C30 questionnaire (at inclusion, at each new treatment and then every 6 months).
4. Collection of retrospective and prospective data into the e-CRF by a local CRA using patients' medical files.

Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING)

To describe the survival rate of patients with solid cancers harboring a NTRK fusion or other rare actionable fusion in real-life practice, according to overall survival (OS)

Treatment scheme : number of line and type of treatments

To evaluate patient-reported outcomes concerning individual QoL according to QLQ-C30 (EORTC Quality of Life questionnaires)

using QLQC30 (EORTC Quality of Life questionnaires)

Using Common Terminology Criteria for Adverse Events (CTCAE) V5.0.

Centre Leon Berard

Neoplasms

Neoplasms, Second Primary

All Drugs and Chemicals

Amino Acids

Immunomodulating Agents

Tyrosine Kinase Inhibitors

Protein Kinase Inhibitors

Enzyme Inhibitors

Tyrosine

Living cancer patients with histologically confirmed rare molecular alterations in their tumours, such as in ALK, EGFR, ROS1, BRAF, and KRAS G12C from participating sites/cancer centres across Canada.

Deceased cancer patients who had histologically confirmed rare molecular alterations in their tumours, such as in ALK, EGFR, ROS1, BRAF, and KRAS G12C from participating sites/cancer centres across Canada.

All cancer patients without rare molecular alterations in their tumours. This group will be established in order to determine baseline characteristics and outcomes, including treatment outcomes, of more standard treatments such as systemic chemotherapy or immunotherapy.

Observing cancer patients who have received or are currently receiving tyrosine kinase inhibitors (TKIs) or other molecularly targeted therapies for their cancer treatment.

Cancer treatment with tyrosine kinase inhibitors (TKIs) or other molecularly targeted therapeutic agents.

Prospectively enrolled participants will be provided with survey packets comprised of different PRO instruments at the initial/baseline visit, at 3 month follow up intervals and at the time when treatment/therapy is changed.

Patient-reported outcomes (PROs)

Roula Raptis, MSc

Geoffrey Liu, MD, MSc

Vishal Navani, MA (Oxon), MBBS, MRCP, FRACP

Quincy Siu-Chung Chu, MD, FRCPC

Cheryl Ho, MD, FRCPC

Shantanu Banerji, MD, FRCPC

Luisa Galvis-Gomez, MD

Elizabeth Faour, MD

Stephanie Snow, MD, FRCPC

Parneet Cheema, MD, FRCPC

Rosalyn Juergens, MD, PhD

Sofia Genta, MD

Sara Kuruvilla, MD, FRCPC

Paul Wheatley-Price, MBChB, FRCP(UK), MD

Abhenil Mittal, MD

Olexiy Aseyev, MD

Devalben Patel, BSc, MLT

Ronald Burkes, MD, FRCPC

Ines Menjak, MD, FRCPC

Normand Blais, MD, MSc

Kevin Jao, MD, PhD

Jason Agulnik, MD

Jonathan Spicer, MD, PhD

Nicholas Meti, MD

Nicolas Marcoux, MD, FRCPC

Philippe Joubert, MD, PhD

Nicole Bouchard, MD

Ayesha Bashir, MD, FRCPC

Sunil Yadav, MD

This study will collect data on Canadian cancer patients that have uncommon/rare changes in their tumours, such as alterations/rearrangements in the genetic material inside cells - known as deoxyribonucleic acid, or DNA, which acts as a map and gives directions to the cells on how to make other substances the body needs - because some of these changes have been found to respond to different drugs that help to stop the cancer. These rare changes occur in genes such as but not limited to ALK, EGFR, ROS1, BRAF, and NTRK which have targeted drugs in a family known as tyrosine kinase inhibitors (TKIs), and KRAS G12C mutation, which now has a targeted inhibitor drug therapy for patients with non small cell lung cancer (NSCLC). The goals for the study are to compare the natural history of such cancers and the treatment outcomes, including toxicities and patient-reported outcomes, for the different therapies.

Molecular heterogeneity in cancer tumours make it a complex disease to manage and treat. However, there have been significant advancements made in the detection of molecular alterations and we are able to now define distinct disease subtypes which permit targeted selection of therapies, thus optimizing treatment responses for patients and improving their survival.

With CARMA-BROS we will address the objectives that follow.

Primary Objectives:

1. To create a cohort of patients through which to better understand the natural history of disease in Canadian cancer patients with tumours that have been molecularly subtyped and identified to have rare molecular alterations.
2. To compare the natural history, stage distribution, treatment outcomes such as treatment effectiveness (composite of disease progression or death) and treatment toxicities across different patients with different molecular alterations, receiving different lines and types of therapy.

   Secondary Objectives:
3. To determine the incidence, time to development, prevalence, and outcomes of patients with specific patterns of spread, such as brain metastases compared to those without, by different therapies and by molecular alterations.
4. To better understand real-world treatment patterns of rare molecular alterations in the Canadian context, across geographic or other factors, and how treatment patterns evolve over time and as new therapies become available, how patients are investigated and how targeted and other biomarkers are used as part of clinical practice in these patients.
5. To assess quality of life in patients with rare molecular alterations across different stages, lines and types of therapy.
6. To perform exploratory health economic evaluations focused on the costs and benefits of managing patients with rare molecular alterations.
7. To perform biomarker analyses, where appropriate, to improve our understanding of these rare molecular alterations.

CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS)

Composite of disease progression or death

Confirmed through imaging (MRI, CT) or determined through treatment indication(s), for example, brain radiation therapy (surrogate for presence of brain metastasis)

Prospectively enrolled participants will complete the following health related quality of life surveys: EORTC QLQ-C30 (core) and EORTC QLQ-LC13 (disease specific module)

Prospectively enrolled participants will complete the health related quality of life survey: EQ-5D-5L.

Prospectively enrolled participants will complete the "Work Productivity and Activity Impairment Questionnaire: General Health" (WPAI:GH) and other economic impact questions that capture indirect costs incurred as a result of their disease.

Takeda Canada, Inc.

Applied Health Research Centre

Programs for Assessment of Technology in Health Research Institute

AstraZeneca

Amgen

Bayer

AnHeart Therapeutics Inc.

University Health Network, Toronto

Respiratory Tract (Lung and Bronchial) Diseases

Carcinoma, Non-Small-Cell Lung

Lung Neoplasms

Carcinoma

Respiratory Tract Neoplasms

Thoracic Neoplasms

Lung Diseases

Respiratory Tract Diseases

Carcinoma, Bronchogenic

Bronchial Neoplasms

Antineoplastic Agents

Apatinib

Apatinib, single agent, 750mg once daily p.o until disease progression

For RET-fusion positive advanced NSCLC patients who failed to previous treatment,treat with apatinib, single agent, 750mg once daily, p.o until disease progression

Apatinib single agent arm

Caicun Zhou, MD,PhD

Caicun zhou, MD, PhD

shengxiang Ren, MD,PhD

Shengxiang Ren, MD,PhD

Fengying Wu, MD,

Xiaoxia Chen, MD,PhD

Chunxia Su, MD,PhD

RET fusions are present in 1% to 2% of unselected population of non-small cell lung cancer (NSCLC). Existing US Food and Drug Administration-approved inhibitors of RET tyrosine kinase show promising therapeutic effects in a non-small cell lung cancer patients. Apatinib is an oral multi-kinase inhibitors including RET fusions. This study is designed to evaluate the safety and tolerability of Apatinib in patients with RET fusion positive advanced NSCLC.

To observe objective response rate (ORR) of apatinib in RET fusion positive pre-treated advanced NSCLC.

To observe Progression free survival （PFS）. To assess the overall survival (OS). To assess safety and tolerability. To evaluate quality of life. To explore the relationship between biomarkers and the toxicity/efficacy of apatinib.

Study of Apatinib in RET Fusion Positive Advanced Non-small Cell Lung Cancer

A Phase II Clinical Trial to Investigate Efficacy and Safety of Apatinib as a Single Agent in RET-fusion Gene Positive Non-small Cell Lung Cancer Who Failed to Previous Treatment.

To evaluate ORR every 6-8 weeks after initiation of apatinib

PFS is evaluated in 24 months since the treatment began

evaluated in the 24th month since the treatment began

Number of Participants with treatment related Adverse Events as Assessed by CTCAE v4.0

Change from baseline in Pain on the 11 point short pain scale (SPS-11)

Tongji University

Professor

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING)	NCT04921553	Cancer Cancer Metastat... NTRK Gene Fusio... NTRK Family Gen... ATIC-ALK Fusion... ALK Fusion Prot... BCR-FGFR1 Fusio... ROS1 Gene Trans... COL1A1-PDGFB Fu... RET Gene Transl... Gene Fusion ROS Gene Transl... BRAF Gene Rearr... FGFR2 Gene Tran... FGFR3 Gene Tran... NTRK1 Gene Tran...	Data collection...	18 Years -	Centre Leon Berard
CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS)	NCT04151342	Cancer Malignancies Mu... Malignant Solid... Cancer, Therapy... Molecular Seque... Genetic Alterat... Gene Fusion Receptor Tyrosi... RTK Family Gene... Ras (Kras or Nr...	Cancer treatmen... Patient-reporte...	18 Years -	University Health Network, Toronto
Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING)	NCT04921553	Cancer Cancer Metastat... NTRK Gene Fusio... NTRK Family Gen... ATIC-ALK Fusion... ALK Fusion Prot... BCR-FGFR1 Fusio... ROS1 Gene Trans... COL1A1-PDGFB Fu... RET Gene Transl... Gene Fusion ROS Gene Transl... BRAF Gene Rearr... FGFR2 Gene Tran... FGFR3 Gene Tran... NTRK1 Gene Tran...	Data collection...	18 Years -	Centre Leon Berard
Study of Apatinib in RET Fusion Positive Advanced Non-small Cell Lung Cancer	NCT02540824	Non-small Cell ...	Apatinib single...	18 Years - 80 Years	Tongji University

Spots Global Cancer Trial Database for gene fusion

Every month we try and update this database with for gene fusion cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for gene fusion

Every month we try and update this database with for gene fusion cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for gene fusion cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.