Clinical Trials for Rosai-Dorfman Syndrome
This article provides detailed information about 3 ongoing clinical trials studying treatments and diagnostic methods for Rosai-Dorfman syndrome, a rare condition involving abnormal growth of immune cells called histiocytes. All three trials are currently recruiting young patients in Poland and focus on advanced imaging techniques and targeted therapies for cases that have not responded to conventional treatment.
Clinical trial locations
- Poland
Study on the Use of Fludeoxyglucose (18F) in PET/CT Scans for Young Patients with Histiocytosis
This trial explores the use of an advanced imaging technique called PET/CT scanning in young patients with histiocytosis. The imaging process uses a special substance called Fludeoxyglucose (18F), which is a type of radioactive sugar that helps doctors see areas of high cell activity in the body during scans.
Main inclusion criteria: Participants must be under 18 years old and have confirmed or suspected histiocytosis based on previous test results. The patient or their guardian must sign an informed consent form agreeing to participate in the study.
Main exclusion criteria: There are no specific exclusion criteria listed for this study, making it broadly accessible to young patients meeting the inclusion requirements.
Focus and goals: The study aims to determine whether PET/CT imaging using Fludeoxyglucose (18F) is beneficial and safe for assessing the molecular profile of histiocytosis in children and teenagers. Researchers will monitor how well this imaging method provides useful information about disease progression and treatment response. The trial will track event-free survival, progression-free survival, overall survival, and overall response rates, as well as monitor any adverse effects. The study is expected to conclude by March 2026.
Investigational substance: Fludeoxyglucose (18F-FDG) is a radioactive sugar used in PET/CT imaging. It works by mimicking regular glucose and is taken up by cells with high metabolic activity, making it particularly useful for identifying areas affected by the condition. The substance is administered intravenously at doses ranging from 200 to 2200 MBq/ml.
Study on Trametinib Dimethyl Sulfoxide for Children with Refractory Histiocytosis Not Responding to Conventional Treatment
This clinical trial focuses on testing a medication called Trametinib Dimethyl Sulfoxide in children whose condition has not improved with standard therapies. The drug is taken orally as a film-coated tablet.
Main inclusion criteria: Patients must be children or teenagers with histiocytic cell proliferation that has not responded to previous treatments. They must either not have BRAF gene mutations or, if they do, must have tried Vemurafenib without success. The disease must have worsened during first or second-line treatment including Vinblastine and prednisolone, or other medications such as Cytosine Arabinoside or Cladribine, or the disease must have returned after initial improvement. Patients must also be enrolled in the HISTIOGEN trial, and those of childbearing age must agree to use effective contraception during and for at least one year after treatment.
Main exclusion criteria: 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, those who are not BRAF negative, and patients whose disease is not refractory to treatment.
Focus and goals: The trial evaluates the safety, effectiveness, and tolerability of Trametinib, as well as determining the optimal duration of treatment for children with treatment-resistant histiocytosis. The study includes regular monitoring through laboratory tests, heart monitoring with echocardiography and ECG, and assessment of vital signs. Researchers will measure event-free survival, progression-free survival, overall survival, overall response rate, and the rate of disease reactivation after two years. The study is scheduled to continue until March 2026.
Investigational drug: Trametinib is a MEK inhibitor, a type of targeted therapy that works by blocking a specific protein in the cell signaling pathway, helping to slow down or stop the growth of abnormal cells. It is administered orally, and the dosage is optimized based on individual patient needs and responses.
Study on Vemurafenib for Children with BRAF Mutation-Resistant Histiocytosis
This trial investigates the use of Vemurafenib, taken as a film-coated tablet, in children with histiocytosis that carries a specific genetic change called the BRAF mutation and has not responded to other treatments.
Main inclusion criteria: Patients must have a confirmed BRAF mutation in their tumor tissue or circulating tumor DNA at any point during treatment or follow-up. They must have experienced treatment failure, which could mean the disease worsened during initial treatment with Vinblastine and prednisolone or second-line treatment with Cytosine Arabinoside or Cladribine, the disease returned after initial improvement, the disease came back for a third time or more, the disease returned after finishing previous Vemurafenib treatment, or signs of neurodegenerative disorder appeared on brain MRI scans. Patients must be enrolled in the HISTIOGEN trial, and those of childbearing potential must use effective birth control during treatment and for at least one year afterward.
Main exclusion criteria: The study excludes patients who do not have histiocytic cell proliferation, those who are not BRAF positive, patients who are not children or young people, and those who do not have refractory histiocytosis.
Focus and goals: The study aims to evaluate the safety, effectiveness, and tolerability of Vemurafenib in children with BRAF mutation-positive histiocytosis that has resisted standard treatments. The trial will determine the best dosage that provides similar benefits to those seen in adults and will optimize the duration of treatment. Throughout the study, participants undergo regular health checks including monitoring of vital signs, laboratory tests, echocardiography, and ECG. Researchers will assess event-free survival, progression-free survival, overall survival, overall response rate, and the disease reactivation rate after two years of treatment.
Investigational drug: Vemurafenib is a BRAF inhibitor, a type of targeted cancer therapy that works by blocking the activity of the mutated BRAF protein involved in cell growth and spread. By inhibiting this protein, the medication helps slow down or stop the proliferation of abnormal histiocytic cells. The drug is administered orally, with dosage and frequency determined individually.
Summary
All three ongoing clinical trials for Rosai-Dorfman syndrome are being conducted in Poland and focus exclusively on pediatric populations under 18 years of age. This concentration of research in a single country suggests a coordinated effort to study this rare condition in young patients.
The trials represent two distinct approaches to managing the condition. One trial focuses on improving diagnostic imaging through PET/CT scanning with Fludeoxyglucose (18F), which could help doctors better understand disease activity and monitor treatment responses. The other two trials test targeted therapies for treatment-resistant cases: Trametinib for patients without BRAF mutations or those who have not responded to Vemurafenib, and Vemurafenib itself for patients with BRAF mutations.
All trials require participation in the HISTIOGEN trial, indicating a broader research framework for studying histiocytic disorders in children. The studies share common outcome measures including event-free survival, progression-free survival, and overall survival, with all three trials expected to conclude around March 2026. These coordinated efforts reflect the challenges of treating refractory cases in young patients and the need for both better diagnostic tools and more effective targeted therapies.
