Study of Percutaneous Cryotherapy for Treating Painful or Difficult Neurofibromas in Neurofibromatosis Type 1 Adults

What this Trial Is About

Researchers are evaluating percutaneous cryotherapy as a treatment for patients with neurofibromatosis type 1 NF1, a genetic condition that causes neurogenic tumors called neurofibromas. These tumors can cause pain, functional problems, and cosmetic issues. Surgical treatment is often invasive and can lead to significant scarring. This study aims to confirm encouraging early results suggesting that cryotherapy may improve quality of life and reduce tumor size in patients with unresectable or difficult-to-treat neurofibromas. The study uses percutaneous cryotherapy, a cold thermoablation technique involving fine needles inserted into the tumor under imaging guidance. The treatment lasts about 30 minutes and involves two 10-minute freezing cycles separated by a warming phase, lowering the tumor temperature to lethal levels for cells. This procedure is studied in patients with painful or functionally impairing benign neurofibromas that cannot be removed surgically without severe scarring. Participants will be monitored for up to 24 months after the cryotherapy. Researchers will assess physical health-related quality of life, tumor response, pain, functional discomfort, safety, patient satisfaction, self-esteem, and the need for additional cryotherapy sessions. Evaluations will occur at multiple time points, including baseline and various months post-treatment. The study also measures operating room time during the procedure and collects data on quality of life using the Short Form-36 questionnaire.

Evaluation of Percutaneous Cryotherapy in the Treatment of Plexiform Neurofibromas and Unresectable Neurofibromas in Neurofibromatosis Type 1