Characterization of Pulmonary Langerhans Cell Histiocytosis

August 16, 2020 updated by: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

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

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.

Study Overview

Status

Recruiting

Conditions

Detailed 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.

Study Type

Observational

Enrollment (Anticipated)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Barcelona, Spain, 08025
        • Recruiting
        • Hospital de la Santa Creu I Sant Pau
        • Contact:
        • Principal Investigator:
          • Diego Castillo, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients diagnosed with Langerhans cell histiocytosis

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of participants with mutations in the B-RAF oncogene in Langerhans histiocytosis
Time Frame: Baseline
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 27, 2013

Primary Completion (Anticipated)

September 1, 2022

Study Completion (Anticipated)

September 1, 2023

Study Registration Dates

First Submitted

March 23, 2017

First Submitted That Met QC Criteria

March 23, 2017

First Posted (Actual)

March 28, 2017

Study Record Updates

Last Update Posted (Actual)

August 18, 2020

Last Update Submitted That Met QC Criteria

August 16, 2020

Last Verified

August 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IIBSP-LAN-2013-39

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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