RASopathy

This study tested whether N-acetylcysteine (NAC), an antioxidant drug, can improve motor skills and learning in children with neurofibromatosis type 1 (NF1). Twenty-five children aged 8 to 16 took NAC or a placebo for 8 weeks. The goal was to see if NAC is safe and helps with mov…

This phase 2 trial tested two drugs, selumetinib and sirolimus, in 21 people with advanced malignant peripheral nerve sheath tumors (MPNST), a rare cancer often linked to neurofibromatosis type 1. The goal was to see if the combination could shrink or stabilize tumors. The study …

This early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…

This phase 2 trial tested a gel called NFX-179 on skin tumors in 199 adults with neurofibromatosis type 1. Participants applied the gel daily for 26 weeks. The study measured safety and whether tumors shrank in size or height. Results suggest the gel may help reduce tumor volume,…

This early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …

This study tested a drug called MEK162 in 105 children with low-grade gliomas or other tumors that have a specific overactive growth signal. The goal was to find the best dose, check for side effects, and see if the drug could shrink tumors. Children took the drug by mouth twice …

This study tested two 8-week stress management programs delivered via secure video calls for 196 adolescents aged 12–17 with neurofibromatosis (NF1 or NF2). The goal was to see if these programs could improve emotional, social, and physical quality of life. Both programs taught c…

This study tested whether N-acetylcysteine (NAC), an over-the-counter antioxidant, could improve learning and motor skills in children with neurofibromatosis type 1 (NF1). Five children aged 8 to 16 took NAC or a placebo to see if it helped with movement and attention problems. T…

This study tested two stress and symptom management programs for adults with neurofibromatosis (NF1, NF2, or schwannomatosis). The programs were delivered through live videoconferencing over 8 weekly sessions. Researchers measured changes in quality of life and emotional well-bei…

This study tested whether cooling the skin before or during laser and injection treatments for neurofibromatosis type 1 (NF1) skin bumps can reduce pain. Thirteen adults with NF1 received four different treatments (two lasers and two injections) on both cooled and non-cooled skin…

This study followed 17 adults with neurofibromatosis type 1 (NF1) over two years to learn how their skin tumors (dermal neurofibromas) grow and change. Researchers used special cameras and skin biopsies to measure tumor growth and look for genes that might influence it. The goal …

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study looked at people with neurofibromatosis type 1 (NF1) to better understand how harmless tumors (plexiform neurofibromas) turn into a rare cancer called MPNST. Ten participants had MRI, PET scans, and tumor biopsies. Researchers tested whether a special PET scan (FLT PET…

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that…

This completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if pr…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This completed study at Stanford University looked at the DNA of over 1,000 adults with Neurofibromatosis Type 1 (NF1) to find genetic differences that might explain why some people develop more skin neurofibromas than others. Participants provided blood or saliva samples for gen…

This completed study looked at how the pigment layer of the eye works in 30 people with neurofibromatosis type 1. Researchers used special eye tests to measure electrical signals from the pigment layer and compared them to images of the back of the eye. The goal was to confirm ea…