Neurocutaneous syndrome

This phase 2 trial tests the safety of belzutifan, a daily oral tablet, in adolescents with rare solid tumors that cannot be surgically removed or have spread. The study includes three tumor types: pheochromocytoma/paraganglioma (PPGL), wild-type gastrointestinal stromal tumors (…

This phase 2 trial is testing whether the combination of avutometinib and defactinib can stop or shrink malignant peripheral nerve sheath tumors (MPNST) that have returned or cannot be removed with surgery. The study enrolls people over 12 years old with relapsed, refractory, met…

This trial tests several drugs in people with NF2-related schwannomatosis, a condition that causes tumors on nerves and in the brain. The study uses a flexible 'platform' design to evaluate treatments for four tumor types: vestibular schwannomas, non-vestibular schwannomas, menin…

This trial tests the drug selumetinib in people with NF2-related schwannomatosis, a genetic condition that causes non-cancerous tumors on nerves, often leading to hearing loss. The study includes both adults and children whose tumors cannot be surgically removed or are growing. R…

This trial tests whether combining two drugs—luvometinib (a targeted therapy) and serplulimab (an immunotherapy)—can shrink tumors and improve hearing in people with NF2-related schwannomatosis. Participants have progressive vestibular schwannomas or meningiomas that are not suit…

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-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 trial tests whether Epidiolex, a prescription CBD medication, can delay or prevent the first seizure in infants with Sturge-Weber syndrome, a rare condition that often leads to seizures and developmental challenges. The study enrolls babies aged 1 to 18 months who have brain…

This trial tests whether pain reprocessing therapy (PRT) — a brief psychological treatment that combines education, cognitive restructuring, and body-focused techniques — can reduce chronic pain. Adults with persistent pain lasting over three months are randomly assigned to full …

This project at King's College London asks how hospital outpatient departments can work better for people with neurofibromatosis who also have sensory challenges. About 30 patients, carers, and staff from Guy's and St Thomas' NHS Foundation Trust take part in interviews, observat…

This study looks at children with Von Hippel-Lindau (VHL) disease, a rare genetic condition that causes tumors in the brain and spinal cord. Researchers want to understand how these tumors grow over time and what factors predict when a child will need surgery. By reviewing medica…

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…