Molecular Targets for the Treatment of Histiocytosis (TARGET-HISTIO)

The primary objective: to develop technical and operating procedures for detection mutations of histiocytosis during clinical practice of no-specialized molecular platforms, for diagnosis and follow-up of the disease.

The secondary objectives: to describe therapeutic target mutations in histiocytosis patients, and to develop the cellular tests to evaluate in vitro the sensibility of these mutations drive to inhibitors.

Study Overview

• Status: Recruiting
• Conditions: Histiocytosis

Detailed Description

The study is ancillary of the French "Gene Histio" cohort (patients already included) and "HISTIO target 2020" cohort (patients recruited since may 2020).

The data base of the French registry of histiocytoses is held by Dr J. Donadieu, and localized in Trousseau hospital (APHP) 75012 Paris, France, where server and backup are kept.

5 teams contributes to the study with different role: Team 1 is responsible for histology diagnosis, selection of histiocyte- rich areas, extraction of nucleic acids and detection of the BRAF p.V600E mutations. This group is also responsible of the tissue and nucleic acids biobank.

Team 2 is responsible for the collection of clinical data and tissue and blood samples of the children. This group is also responsible of the clinical data base.

Team 3 is responsible for the collection of clinical data and tissue and blood samples of the adult patients.

Team 4 is responsible for the development and validation of the new methods of detection of genetic somatic alterations described in project, and will perform most of the molecular analyses and interpretations.

Team 5 is responsible for regulatory requirements preparation and submissions and takes care of replying to regulatory comments and amendments until getting approvals. The project manager will also take care of the coordination of all activities related to the database setting and utilization, liaising between researchers, doctors and operational team. Team 5 will be in charge of the data management of the database and will ensure collection tools, integration and availability of data at appropriate quality. The data manager ensures that data is collected, validated, complete, and consistent, to provide a high quality and comprehensive database to the statistics team. Team 5 includes also a statistician who will perform data analysis according to a detailed statistical analysis plan to be developed once the project is approved.

• Study Type: Observational
• Enrollment (Estimated): 1800

Contacts and Locations

• Study Contact: Name: Jean-François EMILE, MD, PhD; Phone Number: +33 1 49 09 57 25; Email: jean-francois.emile@uvsq.fr

Study Locations

• France
  • Boulogne Billancourt, France, 92100
    • Recruiting
    • Biological research center, Ambroise Paré hospital, APHP
  • Paris, France, 75013
    • Recruiting
    • Department of internal Medicine, Pitié-Salpétrière hospital, APHP
    • Principal Investigator: Julien HAROCHE, MD, PhD
  • Paris, France
    • Recruiting
    • Department of Pediatrics, Trousseau hospital, APHP
    • Principal Investigator: Jean DONADIEU, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Paediatric and adult patients with histologically proven histiocytosis, included in either "Gene Histio" or "HISTIO target 2020" cohorts between 1997 and 2023.

Description

Inclusion Criteria:

• Histologically proven histiocytosis;
• Informed consent form signed by patients (or parents/legal tutors of children) to participate"Gene Histio" or "HISTIO target 2020".

Exclusion Criteria:

- Patient refusal.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Molecular alterations in histiocytosis	Characterize the molecular alterations of nucleic acids in histiocytosis. Assess the frequency and type of drugable mutations in the different sub-types and localizations of histiocytosis Molecular alterations will be assessed by next analysis of DNA or RNA extracted from histiocytosis tissue or blood samples.	throughout of the study, an average of 3 years

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: National Cancer Institute, France; Direction de l'Hospitalisation et de l'Organisation des Soins; Versailles Saint-Quentin-en-Yvelines University, Paris-Saclay University
• Investigators: Principal Investigator: Jean-François EMILE, MD, PhD, Department of Pathology, Ambroise Paré hospital, APHP

Study record dates

Study Major Dates

• Study Start (Actual): November 22, 2021
• Primary Completion (Estimated): April 1, 2025
• Study Completion (Estimated): May 1, 2025

Study Registration Dates

• First Submitted: June 8, 2020
• First Submitted That Met QC Criteria: June 17, 2020
• First Posted (Actual): June 18, 2020

Study Record Updates

• Last Update Posted (Actual): September 6, 2023
• Last Update Submitted That Met QC Criteria: September 4, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Keywords: histiocytosis
• Additional Relevant MeSH Terms: Lymphatic Diseases; Histiocytosis
• Other Study ID Numbers: APHP200137

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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