Neurocutaneous syndrome

This study tests an oral drug, AV078, in people aged 12 and older with tuberous sclerosis complex (TSC) whose seizures are not controlled by standard medications. Participants are randomly assigned to receive AV078 or a placebo for 12 weeks. The goal is to see if AV078 safely red…

This study will follow 100 adults with von Hippel-Lindau (VHL) disease who choose to take belzutifan. Researchers will track how well the drug shrinks tumors, its side effects, and its impact on quality of life and healthcare costs. The goal is to better understand the drug's rea…

This phase 2 trial tests the drug mirdametinib, alone or with radiation, in people with NF1-related high-grade gliomas (aggressive brain tumors). It includes three groups: those with recurrent sporadic glioblastoma, newly diagnosed NF1-associated glioblastoma, and other NF1-relat…

This early-stage trial tests whether two cancer drugs, cabozantinib and selumetinib, can safely shrink plexiform neurofibromas in people aged 16 and older with neurofibromatosis type 1 (NF1). About 30 participants will receive the combination daily. The study first finds the safe…

This early-phase trial tests a combination of three drugs—selumetinib, ZEN-3694, and durvalumab—in people with advanced sarcomas, including malignant peripheral nerve sheath tumors (MPNST) linked to NF1. The study first checks safety and dosing, then looks at whether the treatmen…

This early-phase trial tests an oral drug called Trineumin (PRG-N-01) in 25 adults with neurofibromatosis type II (NF2), a genetic condition that causes non-cancerous tumors on nerves. The study has two parts: first finding a safe dose, then checking if that dose can shrink tumor…

This early-stage trial tests an oral drug called SVG103 (Paxalisib) in 15 adults with rare brain conditions (FCD-II, TSC, or HME) that cause seizures. The main goal is to check safety and side effects, while also seeing if it reduces seizure frequency. Participants take the drug …

This study looks at how young children with neurofibromatosis type 1 (NF1) walk, to see if simple walking tests can help doctors spot and predict movement problems early. Researchers will measure walking speed and other skills in 56 children under 6 years old. The goal is to crea…