Histiocytosis

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This study tests an experimental oral drug called S241656 (BDTX-4933) in people with advanced solid tumors that have certain genetic changes (KRAS, BRAF, or other RAS/MAPK mutations). The trial has two parts: first, finding a safe dose, then testing how well it works alone or wit…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This study tests a drug called tovorafenib (DAY101) in children and young adults (ages 6 months to 22 years) with Langerhans cell histiocytosis that has returned or not responded to treatment. The drug works by blocking enzymes that help cancer cells grow. Researchers will check …

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests a targeted drug called trametinib in 75 children with Langerhans cell histiocytosis (LCH), a rare disease where immune cells grow out of control. The goal is to see if the drug can safely stop the disease from getting worse or coming back. Children with new, rela…

This study tests a drug called N-acetyl-L-leucine (IB1001) in people aged 4 and older with Niemann-Pick disease type C, a rare genetic disorder that affects movement and thinking. The trial compares the drug to a placebo to see if it improves coordination and quality of life. Aft…

This study tests the drug trametinib in children with histiocytosis, a rare blood disorder, that hasn't responded to standard treatments or has a specific genetic profile. The trial aims to find the best dose and timing to improve how long children live without their disease gett…

This study tests the drug vemurafenib in children with a rare blood disorder called histiocytosis that has a specific gene mutation (BRAF) and hasn't improved with standard treatments. The goal is to find the best dose and how long to give the drug to stop the disease from gettin…

This study tests whether adding the targeted drug luvometinib to standard chemotherapy improves outcomes for children with multisystem Langerhans cell histiocytosis (LCH), a rare immune cell disorder. About 120 children aged 0-18 with newly diagnosed, untreated LCH will be random…

This study tests a new daily oral drug called luvometinib in children aged 0-18 with Langerhans cell histiocytosis (LCH) that affects certain bones. LCH is a rare condition where immune cells build up and can cause bone damage. The drug targets a faulty cell signal found in nearl…

This trial is testing two drugs, vemurafenib and cobimetinib, already approved for melanoma, in adults with other rare cancers that have a specific genetic change called BRAF V600 mutation. The goal is to see if the combination can shrink tumors or stop them from growing. About 3…

This early-stage trial is testing a new drug called Q702 in people with various blood cancers and related disorders that have not responded to standard treatments. Q702 is designed to help the immune system attack cancer cells and help the bone marrow make healthy blood cells. Th…

This phase 2 trial is testing a combination of low-dose cytarabine (a chemotherapy drug) and thalidomide in 50 adults with untreated Langerhans cell histiocytosis (LCH), a rare disease where immune cells build up and damage tissues. Participants receive up to 24 cycles of treatme…

This phase 2 trial tests whether a combination of lenalidomide and dexamethasone can control Rosai-Dorfman disease, a rare condition causing swollen lymph nodes and tissue inflammation. About 40 adults who are newly diagnosed or have not responded to prior treatments will receive…

This phase 2 trial is testing the drug mirdametinib in 40 people aged 2 and older with Langerhans cell histiocytosis or similar disorders. The goal is to see if this oral medication works better and has fewer side effects than current treatments. Participants take the drug twice …

This phase 2 study tests the drug cobimetinib in children and adults with Langerhans cell histiocytosis and related disorders that have come back or not responded to standard treatment. Cobimetinib blocks a growth signal that goes haywire in these diseases. The study will enroll …

This phase 3 trial compares two chemotherapy approaches for children and young adults with Langerhans cell histiocytosis (LCH), a rare cancer that can damage tissues. One group gets the standard two-drug combo (vinblastine/prednisone), while the other gets a single drug called cy…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This study is testing a non-invasive eye camera that takes pictures of the retina using different colors of light. Researchers want to see if these images can help detect signs of Alzheimer's, Parkinson's, and other neurodegenerative diseases. About 930 adults over age 30 with or…

This study aims to improve how doctors diagnose and monitor histiocytosis, a rare disease that causes abnormal cell growth, in children under 18. Researchers will use a special imaging agent called fluorodeoxyglucose (18F-FDG) in PET-CT scans, along with genetic testing of tumor …

This study tests a new type of ultrasound called super-resolution ultrasound (SRUS) to see if it can better tell the difference between benign (non-cancerous) and malignant (cancerous) swollen lymph nodes. About 779 adults with abnormal lymph nodes will receive an injection of ul…

This study tests whether telepresence robots can help children aged 5-17 with cancer attend school remotely when they can't be there in person. The robots let kids see, hear, and talk in class from their hospital or home. Researchers will track school attendance, social well-bein…

This study surveys 250 informal caregivers (family or friends) of people with Erdheim-Chester disease and similar conditions. Participants complete online questionnaires about their supportive care needs, mood, and sense of purpose. The goal is to identify what caregivers need mo…

This study aims to learn more about how diseases related to blood clots, the immune system, and blood vessels start and change over time. Researchers will enroll up to 1,000 people aged 5 and older, including those with these conditions, their healthy relatives, and healthy volun…

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

This study looks for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study follows 6,000 people with histiocytic disorders (like Langerhans cell histiocytosis) to understand long-term health problems, pain, mental health, and causes of death. Researchers compare participants to healthy controls to identify factors that lead to new health issu…

This study is a large registry that collects health information and leftover tumor or blood samples from up to 75,000 children and young adults with cancer. The goal is to track outcomes and gather data to help doctors find better ways to treat and care for these patients over ti…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study aims to create a better way to predict long-term outcomes for people with Erdheim-Chester disease (ECD), a rare condition that causes abnormal cells to build up in bones and organs. Researchers will analyze data from 1000 patients to identify factors that affect surviv…

This study is creating a large registry of 800 people receiving biologic medications for immune conditions like autoimmune diseases and primary immune deficiencies. Researchers will collect blood samples and health data to better understand how these treatments work and who respo…

This study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This early-phase study is testing a new imaging agent called [68Ga]-pentixafor to see how well it shows up on PET/CT scans in people with certain blood cancers (like multiple myeloma and non-Hodgkin lymphoma) and rare immune cell tumors. About 30 participants will get the agent a…

This study creates a registry for people with Erdheim-Chester disease and related histiocytoses. Researchers will collect medical information and patient experiences over time to better understand these rare conditions. Up to 500 participants will be enrolled, and some may be ask…

This study enrolls 500 adults with nasopharyngeal carcinoma (stage I-III) who are receiving chemoradiotherapy with either proton or photon radiation. Researchers will collect imaging scans and blood samples to find markers that predict how well the cancer responds, side effects, …

This study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …

This study at Mayo Clinic will collect medical histories and blood, fluid, or tissue samples from 500 people with histiocytic disorders. Researchers will analyze these samples for molecular markers like BRAF V600E and PD-L1 to better understand the diseases. The goal is to gather…