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

Cholangiocarcinoma

Adenocarcinoma

Carcinoma

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Bile Duct Cancer

Intrahepatic Cholangiocarcinoma

Intake of 13.5 mg pemigatinib once daily per oral

Intake of up to 3 tablets of pemigatinib (4,5 mg each) daily per oral for 14 days in a 21-day cycle (maximum of 18 cycles in total)

Pemigatinib

Thorsten Goetze, Prof. Dr.

Doerthe Vortmeyer, Dr.

Dominik Modest, Prof. Dr.

Henning Wege, Prof. Dr.

Stefan Angermeier, Dr.

Salah-Eddin Al-Batran, Prof. Dr.

The aim of this phase II study is to determine whether pemigatinib is clinically efficious after curative local therapy such as surgery/ SBRT or ablation in iCCA patients harboring FGFR2 fusion/rearrangement and to assess the safety profile to support the continuation of the concept in a large, randomized trial for further development.

This is a prospective, exploratory, single-arm, non-randomized, open-label phase II study to investigate whether pemigatinib is clinically efficacious after curative local treatment including surgery/ SBRT or ablation in iCCA patients with FGFR2 fusion/rearrangements.

Patients will receive pemigatinib 13.5 mg oral once daily (21-day cycle; two weeks on, one week off) until disease recurrence, unacceptable toxicity, withdrawal of consent, or investigator decision, but no longer than 12 months (max. 18 cycles).

The primary objective is to assess the efficacy of pemigatinib administered after curative local therapy in treatment-naïve patients with resectable intrahepatic biliary tract cancer (recurrence free survival rate at 12 months, RFS@12).

Secondary objectives are to assess the efficacy by overall survival (OS) and recurrence free survival (RFS); to assess safety of the treatment (AEs, impact on liver function, use of subsequent therapies); to assess quality of life (QoL).

In addition, tissue samples will be analyzed for biomarkers predictive for RFS and OS.

20 patients are to be enrolled in this trial.

Pemigatinib After Curative Local Therapy in Advanced iCCA With FGFR2 Fusion/Rearrangements

A Phase II Study of Pemigatinib After Curative Local Therapy in Locally Advanced Intrahepatic Cholangiocarcinoma (iCCA) Harboring FGFR2 Fusions/Rearrangements.

Objective response rate according to investigator-based RECIST 1.1 assessment, defined as the proportion of allocated subjects with best response of complete or partial response within 12 months after the date of first administration of study treatment. Patients who receive anti-cancer treatment other than the study medication for any reason before reaching a complete or partial response will be identified as nonresponders in the assessment of ORR.

Measurement of quality of life by questionaires filld in by the patients.

Safety and tolerability will by measured by evaluation of incidence, treatment relationship, seriousness, and severity of all AEs, SAEs according to CTCAE V5.0.

Incyte Biosciences International Sàrl

Institut für Klinische Krebsforschung IKF GmbH at Krankenhaus Nordwest

Digestive System Diseases

Colorectal Neoplasms

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Rectal Diseases

Patients receive pemigatinib PO QD on days 1-21. Treatment repeats every 21 days for up to 35 cycles in the absence of disease progression or unacceptable toxicity.

Quality-of-Life Assessment

Kristen K Ciombor

This phase II trial studies how well pemigatinib works in treating patients with colorectal cancer with mutations (alterations) in a FGFR gene and that has spread to other places in the body (metastatic) or cannot be removed by surgery (unresectable). Pemigatinib may stop the growth of tumor cells by blocking FGFR, which is needed for cell growth.

PRIMARY OBJECTIVE:

I. To assess overall response rate (ORR) of pemigatinib in patients with metastatic or unresectable colorectal cancer harboring activating FGFR alterations.

SECONDARY OBJECTIVES:

I. To assess the clinical benefit rate (complete response + partial response + stable disease) with pemigatinib.

II. To assess progression free survival (PFS) and overall survival (OS) with pemigatinib.

III. Assess changes in patient quality of life (QOL) as measured by the linear analogue self-assessment (LASA) questionnaire.

IV. Assess the frequency and severity of adverse events.

CORRELATIVE RESEARCH OBJECTIVES:

I. To assess plasma pharmacodynamic biomarkers of response and resistance to therapy.

II. To explore any correlation between tissue and blood based biomarkers and clinical outcomes.

OUTLINE:

Patients receive pemigatinib orally (PO) once daily (QD) on days 1-21. Treatment repeats every 21 days for up to 35 cycles in the absence of disease progression or unacceptable toxicity.

After completion of study treatment, patients are followed up every 3 months for 3 years after registration.

Pemigatinib for the Treatment of Metastatic or Unresectable Colorectal Cancer Harboring FGFR Alterations

A Phase II, Multicenter, Single-Arm Study of Pemigatinib in Patients With Metastatic or Unresectable Colorectal Cancer Harboring FGFR Alterations

Defined as the rate of patients, among evaluable patients, who experience an objective response per RECIST 1.1. The proportion of successes will be estimated by the number of successes divided by the total number of evaluable patients. Confidence intervals for the true success proportion will be calculated according to the approach of Clopper and Pearson.

Clinical Benefit Rate is defined as the number of patients that experience a complete or partial response, or have stable disease, divided by the number of evaluable patients. Analysis of this endpoint will mirror that of the primary objective.

Progression-free survival (PFS) is defined as the time from study entry to the first of either disease progression or death from any cause, where disease progression is determined based on RECIST 1.1 criteria. PFS will be estimated using the Kaplan-Meier method. The median PFS and corresponding 95% confidence interval will be reported. Patients who do not experience disease progression or death while on protocol will be censored at the last disease assessment date.

Overall survival (OS) is defined as the time from study entry to death from any cause. Will be estimated using the Kaplan-Meier method. The median OS and corresponding 95% confidence interval will be reported.

Quality of Life (QOL) was measured using item 1: Overall QOL of the Linear Analogue Self-Assessment (LASA) Questionnaire on a 0-10 scale, with 0=as bad as it can be and 10=as good as it can be. The QOL scores was converted to a 100-point scale, with 0=Low QOL and 100=Best QOL. Change from baseline to Week 36 will be calculated by subtracting the baseline scores from the scores at Week 36. Negative change indicates the QOL decrease and positive change indicates the QOL improvement.

Adverse events will be summarized by frequency and severity using Common Terminology Criteria for Adverse Events (CTCAE) version 5.0 in the adverse event section of this report. The number of patients evaluated for adverse events is reported below.

National Cancer Institute (NCI)

Academic and Community Cancer Research United

Treatment (Pemigatinib)

Age, Continuous

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

Tanios Bekaii-Saab M.D.

Overall Response Rate (ORR)

Clinical Benefit Rate

Progression-free Survival (PFS)

Overall Survival (OS)

All patients that completed and submitted the baseline and week 36 Linear Analogue Self-Assessment.

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
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
Pemigatinib After Curative Local Therapy in Advanced iCCA With FGFR2 Fusion/Rearrangements	NCT05565794	Intrahepatic Ch... FGFR2 Gene Muta... FGFR2 Gene Rear... FGFR2 Gene Tran...	Pemigatinib	18 Years -	Institut für Klinische Krebsforschung IKF GmbH at Krankenhaus Nordwest
Pemigatinib for the Treatment of Metastatic or Unresectable Colorectal Cancer Harboring FGFR Alterations	NCT04096417	FGFR1 Gene Ampl... FGFR1 Gene Muta... FGFR1 Gene Tran... FGFR2 Gene Ampl... FGFR2 Gene Muta... FGFR2 Gene Tran... FGFR3 Gene Ampl... FGFR3 Gene Muta... FGFR3 Gene Tran... Metastatic Colo... Stage III Color... Stage IIIA Colo... Stage IIIB Colo... Stage IIIC Colo... Stage IV Colore... Stage IVA Color... Stage IVB Color... Stage IVC Color... Unresectable Co...	Pemigatinib Quality-of-Life...	18 Years -	Academic and Community Cancer Research United

Spots Global Cancer Trial Database for fgfr2 gene translocation