RASopathy

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 early-phase study tests a combination of three drugs (avutometinib, defactinib, and everolimus) in people with recurrent endometrial cancer that has specific genetic changes in the RAS pathway. The main goal is to find a safe dose and understand side effects. About 31 partic…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

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 study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

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 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 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 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 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 a supplement called MyCondro can help people with knee osteoarthritis move better and feel less joint discomfort. Researchers will give two different doses to 240 adults aged 45 and older who have had knee problems for at least six months. The main goal i…

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 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 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 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 looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

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 aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

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 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 aims to create a collection of blood and urine samples from 100 people with Noonan syndrome. Researchers will use these samples to study how the disease works and look for factors that predict how it will progress. The study does not test any treatment, but may help gu…

This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at hig…

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 looks back at medical records of 100 children with a genetic condition called RASopathy that causes severe heart thickening and heart failure. Researchers want to collect detailed information on how the disease progressed in the past. This will help design future studi…

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 is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

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 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 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…