Histiocytosis

This phase 2 trial tests the drug selpercatinib in children and young adults (ages 1 to 21) with advanced cancers that have a specific genetic change called a RET alteration. The goal is to see if the drug can shrink tumors or stop them from growing. Only one participant has been…

This phase 2 study tests the chemotherapy drug lenalidomide (Revlimid) in 12 adults with one of three rare histiocyte disorders: Langerhans cell histiocytosis, Erdheim-Chester disease, or histiocytic sarcoma. The goal is to see how many patients achieve disease control or remissi…

This study tests a drug called tipifarnib in children and young adults (ages 1 to 21) whose cancers have a specific change in the HRAS gene. The cancers are advanced or have come back after treatment. The goal is to see if tipifarnib can shrink tumors or stop them from growing. A…

This study tested the drug ensartinib in 13 children and young adults (ages 1–21) whose cancers had come back or did not respond to treatment and had specific ALK or ROS1 gene changes. The goal was to see if the drug could shrink or stop tumor growth. While the drug targets cance…

This phase 2 trial tested the drug ivosidenib in children and young adults (ages 1 to 21) with solid tumors, lymphomas, or histiocytic disorders that have an IDH1 mutation and have either come back after treatment or not responded. The goal was to see if the drug could shrink or …

This study tests the drug clofarabine in 25 people with Langerhans cell histiocytosis (LCH) or related disorders that have returned or not improved with standard therapy. The goal is to see if clofarabine can shrink or eliminate disease. Participants receive the drug and are moni…

This study tests a drug called erdafitinib in children and young adults (ages 1 to 21) whose cancers have come back or are not responding to treatment and have specific changes in FGFR genes. The drug works by blocking enzymes that help cancer cells grow. The main goal is to see …

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This study tests a drug called ulixertinib in children and teens whose advanced cancers have a specific genetic change in the MAPK pathway. The goal is to see if the drug can shrink or control the tumor. About 20 participants with various solid tumors, lymphomas, or related disor…

This phase 2 trial is testing the drug larotrectinib in children and young adults (ages 1 to 21) with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have a specific genetic change called an NTRK fusion. The cancers have either come back after treatment…

This study tests several drug combinations and stem cell transplants in 1,400 children with Langerhans cell histiocytosis, a rare immune disease. The goal is to prevent the disease from coming back and reduce lasting problems like hormone deficiencies and brain issues. Researcher…

This study tests a daily combination of sirolimus, celecoxib, and low-dose chemotherapy in 46 children whose solid or brain tumors have returned or not responded to standard treatment. The goal is to see if this approach can shrink tumors or stop them from growing. While not a cu…

This Phase II trial tests a stem cell transplant from unrelated or partially matched family donors for children and young adults with severe immune deficiencies. The stem cells are specially processed to remove certain immune cells, aiming to reduce complications. The goal is to …

This phase 2 trial tests a combination of three drugs—selinexor, thalidomide, and dexamethasone—in 40 adults with relapsed or refractory Langerhans cell histiocytosis (LCH), a rare immune cell disorder. The goal is to see if the XTD regimen can shrink tumors and delay disease pro…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study looks at the genetic makeup of rare blood diseases like Castleman disease and Langerhans cell histiocytosis. Researchers will analyze blood or tissue samples from 135 participants to find genetic changes that could be targeted by existing or experimental therapies. The…

This study screens children and teens with advanced solid tumors, lymphomas, or histiocytic disorders to find genetic changes in their cancer cells. Participants undergo biopsies and scans to identify mutations that can be targeted by specific drugs. The goal is to see if matchin…

This study looks at how histiocytosis—a group of rare disorders—may affect memory, thinking, and brain structure. Researchers will test 13 adults with these conditions using thinking tasks and MRI scans. The goal is to better understand brain changes, not to provide treatment.…

This study investigates how inherited genetic variations, especially in the SMAD6 gene, influence a person's risk of developing Langerhans cell histiocytosis (LCH), a rare disease where immune cells build up in tissues. Researchers will collect saliva or cheek swabs from 647 chil…

This study looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. …

This study is a large registry that collects information from children diagnosed with cancer across the US and Canada. Its goal is to help researchers understand patterns, causes, and characteristics of childhood cancer. No treatments or drugs are given—it is purely for research …

This observational study looks at a newly identified lung condition called histiocytosis in people who inject drugs. Researchers will study 30 patients to understand symptoms, diagnosis, and outcomes. They will also test new ways to detect a substance called polyvinylpyrrolidone …