Neurocutaneous syndrome

This study follows 165 children who previously took dabrafenib and/or trametinib for certain brain tumors. Researchers want to see if these drugs are safe over the long term and how they affect growth. The children continue their treatment and are monitored for side effects and d…

This study investigates whether combining the medication lovastatin with intensive reading tutoring can improve reading abilities in children and young adults (ages 8-20) with Neurofibromatosis Type 1 (NF1) who have reading disabilities. Participants first receive either lovastat…

This study compares a targeted drug called selumetinib to standard chemotherapy (carboplatin/vincristine) in children aged 2 to 21 with neurofibromatosis type 1 (NF1) and low-grade glioma, a type of brain tumor. The goal is to see if selumetinib works as well or better at control…

This study tests a drug called selumetinib in children and young adults (ages 3-18) with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink or slow the growth of these tumors. Participants take the dru…

This early-stage study tests a combination of two drugs, avutometinib and defactinib, in children and young adults (ages 3 to 30) with advanced or recurrent solid tumors that have specific genetic changes. The main goal is to find the safest dose with the fewest side effects. The…

This study looks at how safe and effective the drug everolimus is for Taiwanese adults with tuberous sclerosis complex (TSC) who have kidney tumors called angiomyolipomas. Four participants will take the drug and be monitored for side effects and tumor shrinkage. The goal is to c…

This study tests a granule (sprinkle) form of the drug selumetinib in children aged 1 to under 7 years who have neurofibromatosis type 1 (NF1) with painful, inoperable tumors. The goal is to find the right dose, check safety, and see if it shrinks tumors. About 36 children will t…

This study follows about 111 people with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex who are taking Epidyolex (a CBD oral solution) for seizures. Researchers track how many stay on the drug for a year and how many seizure-free days they have. It's an o…

This study tests a drug called trametinib in children with a rare blood cancer (juvenile myelomonocytic leukemia) that has returned or not responded to treatment. The drug works by blocking certain enzymes that help cancer cells grow. The goal is to see if it can shrink or contro…

This study looks at whether taking selumetinib with a low-fat meal reduces stomach problems in teenagers with neurofibromatosis type 1 (NF1) who have tumors that cannot be removed by surgery. About 24 teens will take the drug under both fed and fasted conditions to compare drug l…

This study tests a drug called selumetinib in 32 Chinese children and adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be surgically removed. The goal is to check the drug's safety and how well it works at shrinking these tumors. Participants take the …

This study tests a drug called selumetinib in children and young adults with low grade glioma that has come back or not responded to other treatments. The drug works by blocking certain enzymes that help tumor cells grow. The goal is to find the best dose and see if it can shrink…

This study tests a drug called mirdametinib in 114 adults and children with a genetic condition called NF1 that causes nerve tumors (plexiform neurofibromas) that cannot be removed by surgery and cause serious problems. The drug works by blocking a protein that helps tumors grow.…

This phase 2 trial tests the drug trametinib in children and young adults (ages 1 month to 25 years) with low-grade glioma or plexiform neurofibroma that has not responded to prior treatment. Participants take a daily oral dose for up to 18 cycles. The study aims to see if the dr…

This phase 2 trial is testing a daily pill called belzutifan in 50 people with VHL disease who have kidney cancer. The goal is to see if the drug can shrink tumors. Researchers are also monitoring how long any tumor shrinkage lasts and checking for side effects.

This study looks at the long-term safety of everolimus in people with tuberous sclerosis complex (TSC) who have seizures that are hard to control. Participants are already taking everolimus and benefiting from it in an earlier study. The goal is to see if the drug remains safe an…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This study tests the drug selumetinib in adults with neurofibromatosis type 1 (NF1) who have painful, inoperable nerve tumors called plexiform neurofibromas. About 145 participants will receive either selumetinib or a placebo to see if the drug can shrink the tumors and reduce pa…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This study tests a drug called selumetinib in adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink these tumors or slow their growth. Participants take the drug twice daily and are monitored …

This trial is testing whether adding hydroxychloroquine to two targeted cancer drugs (dabrafenib and trametinib) can help children and young adults with certain brain tumors that have come back or not responded to treatment. The study includes patients with specific genetic chang…

This phase II trial tests whether aspirin can delay tumor growth and maintain hearing in people with vestibular schwannoma (acoustic neuroma), a non-cancerous brain tumor. About 97 participants are randomly assigned to take aspirin or a placebo twice daily. The study tracks how l…

This study tests whether injecting doxycycline directly into skin schwannomas can shrink them in people with neurofibromatosis type 2 (NF2). Nineteen participants will receive up to three injections per tumor, with the dose based on tumor size. The goal is to find a less invasive…

This Phase 3 study tests whether a gel containing patidegib can lower the number of new basal cell carcinomas (a type of skin cancer) on the face of adults with Gorlin syndrome. Participants apply the gel or a placebo to their face twice daily for a year. The study will compare h…

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 tests whether a special PET scan using [11C]acetate can detect early signs that the drug rapamycin is working in people with lymphangioleiomyomatosis (LAM), a rare lung disease. Seven adults with LAM and kidney tumors will get one or two scans over 3–6 months. The goal…

This study is testing whether whole body MRI scans can help find cancers early in children and adults with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. About 150 participants will receive annual whole body MRI scans for four years to see if they keep…

This study looks at whether auto-captioning glasses are easy and helpful for adults with NF2-related schwannomatosis who have hearing loss. Eighteen participants will use the glasses for 12 weeks and report their experience through surveys and interviews. The goal is to see if th…

This study tests a specially adapted stress management program called 3RP-VHL for adults with von Hippel-Lindau disease (VHL), a genetic condition that causes tumors. The program teaches relaxation and resilience skills through 8 video sessions. Researchers want to see if it is f…

This study tests whether monthly alexandrite laser treatments can safely shrink or improve the look of skin tumors in adults with neurofibromatosis type 1 (NF1). Ten participants will receive up to six monthly laser sessions, with some areas treated with cooling and others withou…

This study tests whether taking a special olive oil (high in a compound called oleocanthal) along with curcumin (the active part of turmeric) is safe and might help shrink skin tumors in adults with neurofibromatosis type 1 (NF1). About 23 participants take the supplements twice …

This early-stage trial tests whether monthly injections of Kybella (a drug that dissolves fat) can safely shrink skin tumors in people with Neurofibromatosis Type 1. Up to 15 adults will receive up to 6 monthly treatments, and researchers will compare treated and untreated tumors…

This pilot study tests a short online program called 'Well-Beans for Caregivers' for adults caring for someone with tuberous sclerosis complex (TSC). The program consists of three weekly 2-hour sessions based on Acceptance and Commitment Therapy to help caregivers cope with diffi…

This study tests a special needle with a tiny tracking device inside, like a mini GPS, to help doctors find tumors that are hard to see on CT scans. About 3,900 adults with certain cancers or growths will have their biopsy or ablation procedure done using this smart needle. The g…

This study follows 154 people taking Epidiolex (cannabidiol) for seizures caused by Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Researchers will monitor for signs of chronic liver injury and fibrosis over time using blood tests and liver scans. The go…

This natural history study follows 259 children, adolescents, and adults with Neurofibromatosis Type 1 (NF1) for up to 10 years. Researchers will track tumor growth, monitor quality of life, and perform genetic testing to better understand how the disease changes over time. The g…

This study looks at people and families who have a high risk of cancer to learn what genes and environmental factors might increase that risk. Over 5,000 participants are followed over time with questionnaires, medical records, and optional genetic testing. No treatment is given,…

This 5-year study follows 250 people with von Hippel-Lindau disease who have brain or spinal cord tumors. Researchers use regular MRI scans and blood tests to see how fast tumors grow and what factors like hormones might affect growth. The goal is to better understand which tumor…

This study aims to understand why kidney tumors in people with VHL syndrome can be different from each other. Researchers will use advanced imaging, multiple biopsies, and lab-grown tumor models to map these differences. The goal is to learn more about the disease, not to test a …

This study asks 200 adults with von Hippel-Lindau syndrome to fill out an anonymous online questionnaire about their quality of life, psychological well-being, and difficulties accessing care. No treatment or medical tests are involved — the goal is simply to learn what patients …

This study tests a new, fast MRI method that takes about 5 minutes, uses no contrast dye, and often no sedation, even in children. Researchers will scan 80 people with Sturge-Weber syndrome (ages 3 months to 30 years) to see if this quick MRI can accurately detect brain abnormali…

This study monitors the safety of selumetinib in children aged 3 to 18 with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas. Researchers will track potential side effects on the heart, bones, muscles, liver, eyes, and puberty. The goal is to better un…

This study looks at 600 people with Sturge-Weber syndrome, a rare condition that affects the brain and skin. Researchers want to find out what causes the disease to get worse over time. They will study genes, blood vessel changes, and substances in urine to better predict and man…

This study follows 80 people with Neurofibromatosis type 1 (NF1) who are at high risk for developing malignant peripheral nerve sheath tumors (MPNST). Researchers will use yearly whole-body MRI scans, blood samples, and checkups to track changes in nerve lesions over time. The go…

This study follows 500 people with neurofibromatosis type 1 (NF1) to see how their skin tumors (called cutaneous neurofibromas) grow and change over time. Researchers use 3D whole-body photography to track tumor number and size each year. The goal is to better understand these tu…

This study aims to find blood-based biomarkers that signal the presence and size of plexiform neurofibromas in people with Neurofibromatosis type 1 (NF1). Researchers will collect blood samples and use whole-body MRI to compare biomarker levels in 200 participants with different …