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Erdheim-Chester Disease clinical trials

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NCT ID: NCT06332183 Recruiting - Clinical trials for Erdheim-Chester Disease

GWAS and EWAS in Patients With Erdheim-Chester Disease

Start date: July 17, 2019
Phase:
Study type: Observational

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 condition are still unknown, and although some mutations in genes involved in cell proliferation have been identified, other factors may be involved. Susceptibility to developing rare diseases like ECD is typically associated with genetic factors, including DNA polymorphisms and epigenetic modifications. This study aims to analyze the entire genome of a large cohort of patients with ECD and healthy controls to determine whether there are polymorphisms and epigenetic variants associated with susceptibility to developing the disease. The study could thus clarify the genetic predisposition to ECD development, provide insights into disease pathogenic mechanisms, and identify proteins or cellular mechanisms potentially targeted by specific treatments.

NCT ID: NCT06317246 Recruiting - Clinical trials for Erdheim-Chester Disease

Subtypes and Prognostic Factors in Erdheim-Chester Disease

Start date: September 15, 2020
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05915208 Recruiting - Clinical trials for Langerhans Cell Histiocytosis

Histiocytic Disorder Follow-up Study

Start date: September 1, 2022
Phase:
Study type: Observational

The purpose of the study is to describe the burden of chronic health conditions, psychological dysfunction, chronic pain, healthcare utilization, worse health-related quality of life, overall mortality, and cause-specific mortality among individuals with histiocytic disorders

NCT ID: NCT05768178 Recruiting - Multiple Myeloma Clinical Trials

DETERMINE Trial Treatment Arm 05: Vemurafenib in Combination With Cobimetinib in Adult Patients With BRAF Positive Cancers.

DETERMINE
Start date: March 1, 2023
Phase: Phase 2/Phase 3
Study type: Interventional

This clinical trial is looking at a combination of drugs called vemurafenib and cobimetinib. Vemurafenib is approved as standard of care for adult patients with unresectable or metastatic melanoma. Cobimetinib is approved as standard of care in combination with vemurafenib for the treatment of adult patients with unresectable or metastatic melanoma. Cobimetinib and vemurafenib work in patients with these types of cancers which have certain changes in the cancer cells called BRAF V600 mutation-positive. Investigators now wish to find out if it will be useful in treating patients with other cancer types which are also BRAF V600 mutation-positive. If the results are positive, the study team will work with the NHS and the Cancer Drugs Fund to see if these drugs can be routinely accessed for patients in the future. This trial is part of a trial programme called DETERMINE. The programme will also look at other anti-cancer drugs in the same way, through matching the drug to rare cancer types or ones with specific mutations.

NCT ID: NCT05093335 Recruiting - Multiple Myeloma Clinical Trials

In-Human CXCR4 Imaging of Blood Cancers Using [68Ga]-Pentixafor-PET

Start date: October 1, 2021
Phase: Early Phase 1
Study type: Interventional

The purpose of this study is to determine the uptake of the imaging agent [68Ga]-pentixafor with PET/CT scans in people with monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), and non-Hodgkin lymphoma (NHL), or you have histiocytic neoplasms (Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD) and/or Rosai-Dorfman disease (RDD).

NCT ID: NCT04079179 Recruiting - Clinical trials for Neuro-Degenerative Disease

Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders

NACHO-COBI
Start date: April 19, 2021
Phase: Phase 2
Study type: Interventional

This is a research study of a drug called cobimetinib in children and adults diagnosed with Langerhans cell histiocytosis (LCH), and other histiocytic disorders that has returned or does not respond to treatment. Cobimetinib blocks activation of a protein called Mitogen-activated protein kinase (MEK) that is part of incorrect growth signals in histiocytosis cells. Four different groups of patients will be enrolled.

NCT ID: NCT03990428 Recruiting - Clinical trials for Supportive Care Needs of Caregivers

Supportive Care Needs of Caregivers of People With Erdheim-Chester Disease and Other Histiocytic Diseases

Start date: June 14, 2019
Phase:
Study type: Observational

This study is being done to answer the following question: What are the supportive care needs of informal caregivers of people with Erdheim-Chester disease and other histiocytic diseases?

NCT ID: NCT03329274 Recruiting - Clinical trials for Erdheim-Chester Disease

Registry for Patients With Erdheim-Chester Disease and Other Histiocytoses

Start date: October 26, 2017
Phase:
Study type: Observational [Patient Registry]

The investigators want to understand more about what kinds of health problems are caused by histiocytosis, what happens as a result of different treatments, and how ECD affects people's lives, their feelings and their attitudes. The investigators also want to learn how these things change over time for people with these conditions. To try to figure this out, doctors would like to collect information about people who have histiocytosis and how they are treated for this disease. Some participants will be asked to complete a brief interview over the telephone. Only a limited number of interviews will take place, and not everyone will be asked to participate in the interview. It is okay if the participant does not want to participate in the interview portion. If this is the case, the participant should let the study team member know when contacted.

NCT ID: NCT02089724 Recruiting - Clinical trials for Erdheim-Chester Disease

Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease

LOVE
Start date: March 2014
Phase: N/A
Study type: Observational

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. Diagnosis of ECD is based on clinical symptoms, imaging and histology with infiltration of tissues by foamy CD68 positive CD1a negative histiocytes. Because half of the ECD patients carry a BRAFV600E mutation, we recently proposed vemurafenib, an inhibitor of mutant BRAF, as a possible targeted therapy. We have treated more than10 patients with refractory ECD with life-threatening manifestations associated with the BRAFV600E mutation and observed a short and long term efficacy. However, vemurafenib may have several side effects and long term administration of this drug has not been evaluated. In other diseases such as melanoma, duration of administration is usually shorter, due to bad prognosis of the disease and progression despite treatment. As in long-term follow-up, ECD patients with vemurafenib seem to have a stable disease, we want to evaluate the possibility of treatment interruption as this is what we do in our current practice. Other BRAF inhibitors, such as dabrafenib, have recently been proposed for treating BRAF mutated histiocytoses. Other BRAF inhibitor interruption treatment should also be prospectively evaluated.