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Characterization of Pulmonary Langerhans Cell Histiocytosis

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	No
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational [Patient Registry]
Eligible Ages	N/A and Over
Gender	All

More Inclusion & Exclusion Criteria

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.

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT03093727
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	N/A
Principal Investigator Affiliation	N/A
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	Spain
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Langerhans Cell Histiocytoses

Additional Details

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.

Contact a Trial Team

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