Ongoing Clinical Trials for Erdheim-Chester Disease
There are currently 3 clinical trials ongoing for patients with Erdheim-Chester disease, focusing on advanced imaging techniques and targeted therapies for children and young people who have not responded to conventional treatments. These studies are investigating new approaches to diagnose, monitor, and treat this rare condition.
Clinical trial locations
- Poland
Study on the Use of Fludeoxyglucose (18F) in PET/CT Scans for Young Patients with Histiocytosis
This trial is exploring the use of a special imaging technique called PET/CT scanning in young patients with histiocytosis. The imaging uses a radioactive substance called Fludeoxyglucose (18F), which acts like sugar in the body and helps doctors see areas of increased cell activity during scans.
Who can participate: This study is open to children and teenagers under 18 years old who have confirmed or suspected histiocytosis based on previous test results. The patient or their parent/guardian must sign an informed consent form agreeing to participate in the study according to current legal requirements.
Who cannot participate: The trial does not list any specific exclusion criteria, meaning there are no particular reasons stated that would prevent eligible patients from joining the study.
What the trial is studying: The main goal is to determine how beneficial and safe this imaging method is for young patients with histiocytosis. The study will help doctors better understand the disease at a molecular level by showing which areas of the body have high metabolic activity. Researchers will monitor how the disease responds to treatment over time and track any side effects that may occur. The trial also aims to evaluate event-free survival, progression-free survival, overall survival, and the rate at which the disease becomes active again after two years.
Investigational approach: The study uses Fludeoxyglucose (18F-FDG), a type of radioactive sugar administered through an intravenous injection. The dosage ranges from 200 to 2200 MBq/ml depending on the specific imaging requirements. This substance helps highlight areas of the body during PET/CT scans, particularly those with high metabolic activity, which can indicate disease presence or activity.
Study on Trametinib Dimethyl Sulfoxide for Children with Refractory Histiocytosis Not Responding to Conventional Treatment
This clinical trial is testing a medication called Trametinib in children whose histiocytosis has not improved with standard treatments. The drug is taken as a film-coated tablet and targets specific pathways involved in abnormal cell growth.
Who can participate: This study is for children and teenagers with histiocytic cell proliferation whose disease has not responded to previous treatments. Eligible patients must either not have BRAF gene mutations, or if they do have these mutations, they must have already tried Vemurafenib treatment without success. The disease must have worsened during first or second-line treatments (including Vinblastine and prednisolone, or Cytosine Arabinoside or Cladribine), come back after initial improvement, or shown signs of brain involvement on MRI scans. Patients must be enrolled in the HISTIOGEN trial, and those who are able to have children must agree to use effective contraception during the study and for at least one year after stopping the medication. Both male and female patients can participate.
Who cannot participate: The study excludes patients who do not have histiocytic cell proliferation, those who are not children or young people, patients who have not tried Vemurafenib before (if they have BRAF mutations), and those whose disease is not refractory to treatment.
What the trial is studying: The trial aims to evaluate the safety, effectiveness, and how well patients tolerate Trametinib, as well as to determine the best duration of treatment for children with difficult-to-treat histiocytosis. Researchers will monitor participants to assess their response to treatment and any side effects. The study will track event-free survival, progression-free survival, overall survival, overall response rate, and the disease reactivation rate after two years. Regular health checks including laboratory tests and heart monitoring will be conducted throughout the trial.
Investigational drug: Trametinib Dimethyl Sulfoxide is administered orally as a tablet. It works by inhibiting a specific protein in the cell signaling pathway called MEK, which helps slow down or stop the growth of abnormal cells. The trial is exploring whether this targeted therapy can be more effective for patients who have not responded to other treatments.
Study on Vemurafenib for Children with BRAF Mutation-Resistant Histiocytosis
This clinical trial is studying a medication called Vemurafenib in children with histiocytosis that carries a specific genetic change called the BRAF mutation and has not responded to standard treatments. The medication is taken as a film-coated tablet.
Who can participate: This study is for children and young people who have histiocytosis with a confirmed BRAF mutation detected in their tumor tissue or circulating tumor DNA at any point during treatment or follow-up. Eligible patients must have experienced treatment failure, shown by disease worsening during first or second treatment affecting at least one important organ (after at least 6 weeks of Vinblastine with 28 days of prednisolone, or at least 2 cycles of Cytosine Arabinoside or Cladribine), disease recurrence after initial improvement, third or subsequent disease recurrence, disease return after Vemurafenib treatment, or signs of brain-related problems on MRI scans. Patients must be enrolled in the HISTIOGEN trial, and those who are able to have children must agree to use effective contraception during treatment and for at least one year afterward. Both male and female patients can participate.
Who cannot participate: The study excludes patients who do not have histiocytic cell proliferation, those who are not BRAF positive (meaning they don’t have the specific genetic change), patients who are not children or young people, and those who do not have refractory histiocytosis (disease that doesn’t respond to standard treatments).
What the trial is studying: The trial aims to evaluate the safety, effectiveness, and tolerability of Vemurafenib in children with BRAF mutation-positive histiocytosis that has resisted other treatments. Researchers will monitor participants to determine the best dosage and duration of treatment, assess how well the drug prevents disease progression, and measure how long patients can live without the disease getting worse. The study will track event-free survival, progression-free survival, overall survival, overall response rate, and how often the disease comes back after two years. Regular health checks including vital signs monitoring, laboratory tests, imaging studies, and heart function assessments will be conducted throughout the trial.
Investigational drug: Vemurafenib is administered orally as a tablet. It works by targeting and inhibiting the activity of the mutated BRAF protein, which is involved in the growth and spread of abnormal cells. This type of medication is called a BRAF inhibitor and represents a form of targeted cancer therapy that specifically addresses the genetic abnormality driving the disease.
Summary
All three ongoing clinical trials for Erdheim-Chester disease are currently being conducted in Poland and focus specifically on pediatric and adolescent patients. The trials represent a comprehensive approach to managing this rare condition, combining advanced diagnostic imaging with targeted therapies.
One trial explores improved imaging techniques using PET/CT scans to better understand disease activity and monitor treatment response. The other two trials test targeted medications—Trametinib and Vemurafenib—for children whose disease has not responded to conventional treatments. Notably, both drug trials are specifically designed for patients enrolled in the HISTIOGEN trial, suggesting a coordinated research effort.
A key distinction between the two treatment trials is that Vemurafenib targets patients with BRAF mutations, while Trametinib is aimed at patients without BRAF mutations or those who have failed Vemurafenib treatment. This reflects a personalized medicine approach, matching treatments to specific genetic characteristics of each patient’s disease.
All trials are expected to conclude by March 2026 and share similar monitoring approaches, tracking event-free survival, progression-free survival, overall survival, and disease reactivation rates over a two-year period. These studies represent important research efforts for this rare condition, particularly for young patients with treatment-resistant disease.
