Phagocytic cell dysfunction

This early-phase trial tests whether a bone marrow transplant from a partially matched relative can safely cure chronic granulomatous disease (CGD), a condition that causes severe infections and inflammation. Four people aged 4 to 65 with CGD and no perfect donor will receive che…

This study tests a high-dose stem cell transplant for people with chronic granulomatous disease (CGD), a condition that weakens the immune system. Participants receive donor stem cells along with drugs to prevent rejection and graft-versus-host disease. The goal is to improve tra…

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 gene therapy for people with X-linked chronic granulomatous disease (X-CGD), a genetic condition that weakens the immune system and leads to severe infections. Researchers take the patient's own stem cells, add a working copy of the faulty gene, and return the …

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 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 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 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 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 tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

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 early-stage trial tests a new gene therapy (PM359) for people with a rare immune disorder called chronic granulomatous disease (CGD). The treatment takes a patient's own blood stem cells, fixes a specific genetic error using a precise editing tool called prime editing, and r…

This study tests a new gene therapy for people with chronic granulomatous disease (CGD), a genetic disorder that weakens the immune system and makes them prone to serious infections. The treatment takes the patient's own blood stem cells, adds a missing gene in the lab, and puts …

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

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 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…

This trial aimed to test a gene therapy for X-linked chronic granulomatous disease, a condition where the immune system cannot fight certain infections. The treatment involved taking the patient's own stem cells, adding a working copy of the defective gene, and returning them to …

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 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 …