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NCT06317246

Subtypes and Prognostic Factors in Erdheim-Chester Disease

Status unknown NA Last updated 19 March 2024
What this trial tests

NA trial testing Investigation of BRAF mosaicism in Erdheim-Chester Disease in 70 participants. Status unknown.

Timeline
15 September 2020
Primary endpoint
15 September 2024
15 December 2024

Quick facts

Lead sponsorMeyer Children's Hospital IRCCS
PhaseNA
StatusStatus unknown
Study typeINTERVENTIONAL
Allocationna
Designsingle group
Maskingnone
Primary purposediagnostic
Enrollment70
Start date15 September 2020
Primary completion15 September 2024
Estimated completion15 December 2024
Sites2 locations across Italy

Drugs / interventions tested

Conditions studied

Sponsor

Meyer Children's Hospital IRCCS

Who can join

Adults 1 to 65, any sex, with Erdheim-Chester Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Erdheim-Chester Disease (ECD) is a rare form of histiocytosis characterized by the proliferation of blood cells, known as histiocytes, which infiltrate various organs and tissues, often causing irreversible damage. The causes of the pathology are still unknown. Although the disease typically affects adult individuals, cases of pediatric-onset ECD have been described. However, there is a lack of detailed information on the phenotypic characteristics of these patients, and reliable data on response to specific therapies and long-term outcomes are missing. Three patients referred to our reference center for Histiocytosis present a concomitant BRAF-mutated neoplasm. Such an association could be due to the presence of mosaicisms for the BRAF V600E mutation. Mosaicism is a biological event defined as the presence of more than one genetically dissimilar cell population in the same organism and is an increasingly studied field, both in normal and pathological conditions. If proven in ECD as well, this mechanism could contribute to providing answers to the still open questions regarding the development of this disease.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other recruiting trials for Erdheim-Chester Disease

Currently open trials in the same condition.

Other Meyer Children's Hospital IRCCS trials

Trials by the same sponsor.

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Data sources for this page

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