RASopathy

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 tests if a new growth hormone medicine (somapacitan) given once a week works as well as the standard daily growth hormone (Norditropin) for children who are very short due to being born small, or having Turner syndrome, Noonan syndrome, or unknown causes. About 412 chi…

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 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 new drug called DAY101 (tovorafenib) against standard chemotherapy for children and young adults with a type of brain tumor called low-grade glioma that has a specific gene change (RAF alteration). The goal is to see if the new drug works better at shrinking tu…

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 45 people aged 2 months to 30 years with vascular anomalies caused by changes in the Ras/MAPK pathway. Participants take trametinib daily for up to 3 years. The study measures whether the drug shrinks lesions, improves quality of li…

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 early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

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 study tests a new growth hormone medicine called somapacitan, given once a week, in 47 children who are very short due to being born small for gestational age, or having Turner syndrome, Noonan syndrome, or idiopathic short stature. The main goal is to see if it is safe and …

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 study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

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 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 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 is a registry that will follow up to 221 children with Noonan Syndrome who are already taking or starting Norditropin® for short stature. Researchers will collect information on growth, side effects, and quality of life over time. No new treatment is being tested—the g…

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 …