Clinical trial NCT04437381: Molecular Targets for the Treatment of Histiocytosis
Official title: Molecular Targets for the Treatment of Histiocytosis
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Histiocytosis
Keywords: histiocytosis
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
Collaborators: name: National Cancer Institute, France
name: Direction de l'Hospitalisation et de l'Organisation des Soins
name: Versailles Saint-Quentin-en-Yvelines University, Paris-Saclay University
First posted: 2020-06-18
Enrollment: 1800
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Molecular alterations in histiocytosis
timeFrame: throughout of the study, an average of 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boulogne Billancourt
country: France
facility: Biological research center, Ambroise Paré hospital, APHP
city: Paris
country: France
facility: Department of internal Medicine, Pitié-Salpétrière hospital, APHP
city: Paris
country: France
facility: Department of Pediatrics, Trousseau hospital, APHP
Study officials:
affiliation: Department of Pathology, Ambroise Paré hospital, APHP
name: Jean-François EMILE, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: