Neurocutaneous syndrome

This study tests the drug abemaciclib, typically used for cancer, in people with neurofibromatosis type 1 (NF1) who have atypical neurofibromas that cannot be surgically removed. The goal is to find a safe dose and see if it can shrink or stabilize these tumors. Participants take…

This study tracks how well the drug Koselugo (selumetinib) works and what side effects it causes in people with Neurofibromatosis Type 1 and painful nerve tumors. About 200 patients in South Korea will be followed during their normal doctor visits. The goal is to confirm the drug…

This phase 2 study tests belzutifan, a daily pill that blocks a protein called HIF-2α, in people with advanced rare cancers like pheochromocytoma/paraganglioma, pancreatic neuroendocrine tumors, VHL disease-associated tumors, and certain other solid tumors. The goal is to see if …

This early-stage trial is testing whether specially engineered immune cells (called CAR-T and CTL cells) and a dendritic cell vaccine can safely treat people with neurofibromatosis or schwannomatosis, conditions that cause nerve tumors. The study will enroll 100 participants aged…

This extension study follows people with von Hippel-Lindau (VHL) disease or advanced solid tumors who are already taking belzutifan in another trial. The goal is to see how long they live and how safe the drug is over the long term. About 450 participants will take belzutifan by …

This phase 2 trial tests an oral drug called HLX-1502 in people aged 12 and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas—nerve tumors that can cause pain, disfigurement, or other problems. The study will enroll 25 participants and measure whether the…

This program provides mirdametinib to individual patients with serious, life-threatening conditions like neurofibromatosis type 1 tumors or other MAP-K pathway diseases who have no other treatment options and cannot join a clinical trial. Each case requires approval from the comp…

This early study tests whether a drug called IMLYGIC, made from a modified herpes virus, can be safely injected into painful or disfiguring skin tumors in adults with NF1. Ten participants will receive up to 8 injections over 4 months. The goal is to see if the treatment is toler…

This study tests several experimental drugs in people with NF2-related schwannomatosis, a genetic condition that causes non-cancerous tumors on nerves. The goal is to see if these drugs can shrink tumors and control the disease. About 109 participants will receive one of three dr…

This study tests whether a smartphone app can help people with chronic kidney disease (CKD) follow the latest KDIGO treatment guidelines. Researchers will enroll 80 adults aged 16-30 with CKD who own a smartphone. The app provides reminders, education, and care recommendations to…

This study tests a combination of two drugs, trametinib and azacitidine, for children newly diagnosed with juvenile myelomonocytic leukemia (JMML), a rare blood cancer. Lower-risk patients get just these two drugs, while higher-risk patients also receive standard chemotherapy. Th…

This study tests a drug called mirdametinib in adults with neurofibromatosis type 1 (NF1) who have skin tumors called cutaneous neurofibromas. The goal is to find a safe dose and see if the drug can shrink these tumors. About 24 people will take the drug daily or on a three-week-…

This study tests a special stem cell transplant for children and adults with blood cancers like leukemia. The transplant uses stem cells that have had certain immune cells removed to lower the risk of graft-versus-host disease, a serious complication. About 70 participants will r…

This Phase 3 trial tests a full-spectrum cannabis extract (YCJ-01) in 84 people aged 2 to 65 with tuberous sclerosis complex (TSC) whose seizures have not been controlled by standard treatments. Participants will receive either the cannabis extract or a placebo for two months. Th…

This early-phase trial tests a new drug called Sapu003, given with or without exemestane, in adults with advanced cancers that respond to mTOR pathways—including certain breast, kidney, liver, and neuroendocrine tumors. The main goal is to find the safest dose and check for side …

This early-stage trial tests a daily pill called PAS-004 in 56 adults with NF1 who have at least one symptomatic, inoperable plexiform neurofibroma. The study has two parts: Part A finds a safe dose, and Part B checks safety and whether the drug can shrink tumors. Participants ta…

This small pilot study is testing an oral drug called mirdametinib in 10 people with advanced melanoma that has a specific gene change (NF1 mutation) and has stopped responding to standard immunotherapy. The main goal is to see if the drug can shrink tumors and if it is safe enou…

This study tests the drug belzutifan in 100 people with von Hippel-Lindau (VHL) syndrome, a genetic condition that causes tumors in various organs. Researchers will track how well the drug shrinks tumors and how long it takes for the disease to progress, while also monitoring sid…

This study is testing a new imaging agent called 18F-T2, which is designed to highlight tumors that produce a protein called CAIX. About 200 adults with various cancers (like kidney, lung, or breast cancer) will receive an injection of 18F-T2 and then undergo a PET/CT scan. The g…

This study tests a new way to check for bleeding after stroke surgery using a special ultrasound through a clear skull implant. It aims to see if this method is as accurate as a CT scan, which is the current standard but is expensive and time-consuming. About 25 adults who had a …

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study tests a special PET scan that uses a radioactive tracer to find tumors in people with Von Hippel-Lindau (VHL) disease, a genetic condition that causes tumors to grow. About 38 adults with VHL will receive one dose of the tracer and then have a PET/CT scan. The goal is …

This study is testing a new blood test that looks for DNA fragments from tumors in people with hereditary cancer syndromes like Lynch syndrome or BRCA mutations. The goal is to see if the test can find cancers earlier than standard screening methods. Researchers will compare canc…

This study tests whether giving selumetinib early to children with NF1, before nerve tumors cause symptoms, can prevent tumor growth and related problems. About 200 children aged 1 to 8 years with no known tumors will either receive the drug or be observed. The goal is to see if …

This study tests whether giving the drug sirolimus early in life can prevent or delay seizures in infants with tuberous sclerosis complex (TSC). About 64 babies under 7 months old will receive either sirolimus or a placebo. Researchers will track when seizures first appear and mo…

This study tests two experimental drugs, siltuximab and erenumab, to see if they can safely reduce chronic pain in people with schwannomatosis, a condition that causes painful nerve tumors. About 40 adults with moderate-to-severe pain will receive either a drug or a placebo. The …

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study tests a remote program called Regulating Together (RT) for children aged 8-17 with Tuberous Sclerosis Complex (TSC) who struggle with emotional outbursts. The program uses cognitive behavioral therapy and mindfulness in small group sessions over 5 weeks. Researchers wa…

This study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…

This study looks at why people with tuberous sclerosis, a rare genetic condition, develop non-cancerous skin tumors. Researchers will examine up to 400 adults, perform skin exams, and take small tissue samples (biopsies) from tumors. The goal is to identify the cells and genetic …

This study looks at children under 15 with neurofibromatosis type 2 (NF2), a rare genetic condition that causes nerve tumors. Researchers want to see if skin and mouth lesions can help diagnose NF2 earlier than current methods, which rely on hearing, nerve, and eye symptoms. By e…

This study creates a registry of medical records, scans, and surveys from adults with neurofibromatosis type 1 (NF1) who also have a glioma brain tumor. Researchers will track diagnosis, treatments, and quality of life over time to better understand the disease. The goal is to im…

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

This study gathers information from 125 people with von Hippel-Lindau (vHL) disease, a rare genetic condition that causes tumors. Researchers will track disease status, past surgeries and treatments, and quality of life. The goal is to better understand how vHL progresses over ti…

This study collects information from 200 adults in Russia who have neurofibromatosis type 1 (NF1) with plexiform neurofibromas. Researchers will look at patients' age, symptoms, and medical history to better understand the disease. No new treatments are being tested; the goal is …

This study follows 269 people with neurofibromatosis type 2 (NF2) for up to 10 years to learn how the disease progresses. Participants will have yearly exams, MRI scans, hearing tests, and blood draws. The goal is to understand tumor growth, hearing loss, and speech or swallowing…

This study aims to understand how lymphangioleiomyomatosis (LAM) damages the lungs at the cellular and genetic level. Researchers will follow up to 2,000 participants, including women with LAM and healthy volunteers, using advanced imaging and lab tests. The goal is to find the p…

This study is building a large collection of blood, DNA, and tissue samples along with health records from up to 5,000 people with tuberous sclerosis complex (TSC) or a related condition called lymphangioleiomyomatosis. Participants can give blood or cheek swab samples and allow …

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study works to improve questionnaires that measure pain, daily activities, and physical function for people with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas. Participants aged 5 and older will give feedback on existing surveys through group discussions or…

This study investigates the specific cognitive strengths and weaknesses of children and adults with Sturge-Weber Syndrome (SWS), a rare condition affecting blood vessels in the brain, skin, and eyes. Participants complete a series of tests measuring memory, attention, language, a…

This study is a disease registry that will collect information from 200 people in Egypt who have neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves. The goal is to understand how the disease progresses over time, what treatments patients rece…

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

This study is testing a device called the AlgometRx Nociometer to see if it can measure pain and other abnormal sensations in people with neurofibromatosis type 1 (NF1). The device uses a small electrode on a finger or toe to send painless signals and a camera to record changes i…

This study is for people aged 3 and older with neurofibromatosis type 1 (NF1), a genetic condition that often causes noncancerous nerve tumors. About half of people with NF1 get these tumors, and sometimes they turn cancerous. Researchers want to test a new method to predict whic…

This study follows families with a history of inherited kidney cancer to learn more about the disease's genetic causes and how it progresses. Researchers will collect blood, tissue, and urine samples from affected individuals and their relatives. The goal is to identify new genes…

This study tests a structured program to help adolescents with epilepsy transition from pediatric to adult healthcare. Researchers will compare how many patients attend their first adult clinic appointment and whether they return to pediatric care. The goal is to improve self-man…

This pilot study is testing whether a whole-body MRI scan, analyzed by artificial intelligence, can reliably detect pre-cancerous changes in children with neurofibromatosis type 1 (NF1). Fifteen children will receive three MRI scans over a year. The goal is to see if the scans ar…

This study is developing questionnaires to measure how visible tumors in neurofibromatosis type 1 (NF1) affect patients' appearance concerns. About 110 participants, including children, adults, and caregivers, will complete surveys and join focus groups or interviews to give feed…

This study follows people with von Hippel-Lindau (VHL) disease who have pancreatic tumors or cysts. The goal is to learn how these growths change over time and to see if a special type of scan (68-Gallium DOTATATE PET/CT) can find them better. Participants will have regular check…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study looks at how high-frequency 5G waves (27.5 GHz) affect the skin. Researchers will expose healthy volunteers and people with certain skin conditions to these waves and analyze skin cell changes using advanced techniques. The goal is to understand any biological effects,…

This study looks at whether online videos or a call with a peer navigator can help adults with neurofibromatosis 1 (NF1) who have low health literacy better understand their condition and care recommendations. Fifty participants across the U.S. will receive personalized care lett…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study collects information from pregnant women with Tuberous Sclerosis Complex (TSC) or Lymphangioleiomyomatosis (LAM) and their babies. Researchers will monitor medication use, side effects, pregnancy complications, and mental health after birth. The goal is to better under…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study is testing whether a blood test (liquid biopsy) can detect a rare but serious nerve tumor called MPNST earlier than current methods in adults with Neurofibromatosis Type 1 (NF1). Researchers will compare the timing of tumor detection by the blood test versus standard i…

This study looks at tiny particles called extracellular vesicles in the blood of women with a rare lung disease called LAM. Researchers want to see if these particles can act as biomarkers to show how the lungs are affected. The study will compare women with different forms of LA…

This study tests whether using tiny electrical currents to trigger seizures can help doctors better understand where seizures start in the brains of children with drug-resistant epilepsy. About 86 children and young adults (ages 1-30) who are already scheduled for brain monitorin…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study explores whether a special PET/CT scan using a tracer called [18F]PT2385 can detect a protein (HIF2α) that helps kidney cancers grow. About 35 adults with kidney cancer or a genetic condition called VHL syndrome will receive the scan, and results will be compared with …

This study aims to find out which of two educational programs better helps adults with Neurofibromatosis 1 (NF1) and parents of children with NF1 get the recommended health screenings during their regular checkups. Participants live across the U.S. and do not currently visit a sp…

This study is a registry that gathers medical information from up to 100 people who have either large dark skin patches present at birth or a rare brain condition called neurocutaneous melanocytosis. The goal is to collect data on how these conditions are treated and how they pro…