Characterization of Pulmonary Langerhans Cell Histiocytosis

Langerhans Cell Histiocytoses Clinical Trial

Official title:

Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03093727
• Other study ID #: IIBSP-LAN-2013-39
• Status: Recruiting
• Start date: September 27, 2013
• Est. completion date: September 2023

Study information

• Verified date: August 2020
• Source: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

Very recent studies indicate that a high percentage of HCL, about 50%, have mutations in the B-RAF oncogene. The development of ultrasensitive methodologies capable of identifying these mutations in bronchoalveolar lavage will represent a significant advance in the diagnosis and treatment of these patients. An undetermined percentage of HCL does not present mutations in B-RAF. Consequently, the deep genetic analysis, through the use of techniques of massive sequencing, can favor the identification of new alterations that contribute to the development of the disease.

We hypothesized that patients with HCL may present a different inflammatory state to healthy subjects or smokers, allowing us to identify new biomarkers.

Description:

The main objective of this study is to expand the genetic and pathophysiological knowledge of this disease. For this, the following points will be developed:

• Identification of mutations in the B-RAF oncogene in Spanish patients with pulmonary LCHF.

• Development of ultrasensitive genetic analysis methods capable of identifying mutations in B-RAF in bronchoalveolar lavage (BAL) samples.

• To determine if patients with mutations in the B-RAF oncogene present distinct clinical, radiological and / or functional characteristics compared to those with absence of the mutation.

• Characterization of the inflammatory profile of patients with HPCL.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: September 2023
• Est. primary completion date: September 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion criteria

• Men and women with no age limitation

• Established histiological diagnosis of histiocytosis of langerhans cells.

• HCLP-compatible clinical-radiological picture.

• Signed informed consent

Exclusion criteria

• Non-acceptance of informed consent.

• Absence in clinical history of clinical, radiological and functional variables essential for the diagnosis of HLCP.

• Psychiatric disorder or limitation for study compression (including language, socio-cultural problem, etc.).

• Radiological findings suggestive of another chronic lung disease.

• Active respiratory infection.

Related Conditions & MeSH terms

• Histiocytosis
• Histiocytosis, Langerhans-Cell
• Langerhans Cell Histiocytoses

Locations

Country	Name	City	State
Spain	Hospital de la Santa Creu i Sant Pau	Barcelona

Sponsors (1)

Lead Sponsor	Collaborator
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of participants with mutations in the B-RAF oncogene in Langerhans histiocytosis		Baseline