Neurofibromatosis Clinical Trials 2023

What Are Neurofibromatosis Clinical Trials?

Neurofibromatosis (NF) is a genetic disorder affecting the brain, nerves, skin, and spinal cord. Researchers have classified neurofibromas into two types: neurofibromatosis type 1 (NF1) and NF2. NF1, also known as von Recklinghausen’s NF, is more prevalent. NF 1 is estimated to occur in 1 in 3,000 births and affects all races and ethnic groups equally.

Most tumors (also known as neurofibromas) are benign (noncancerous), although some may become malignant (cancerous). It is unknown why these tumors develop, requiring more neurofibromatosis clinical trials. Researchers believe that NF is caused by mutations in genes - identified as NF1, NF2, SMARCB1, and LZTR1 - that prevent them from making normal proteins. This leads to cell growth and the formation of tumors.

Why Is Neurofibromatosis Being Studied Through Clinical Trials?

The diagnosis, treatment, and prevention of neurofibromatosis are difficult. This requires more neurofibromatosis clinical trials to identify effective diagnostic tools and treatment methods to improve the patient’s quality of life. The sooner a patient can find treatment, the better their chances of recovery.

Continued research on proteins and genes can reveal how tumors grow and form. Researchers also hope to develop more effective drugs with fewer side effects for managing the symptoms of the disease.

What Are The Types of Treatments Available For Neurofibromatosis?

There is no cure for neurofibromatosis. Doctors are more concerned with managing the symptoms of neurofibromatosis and improving the patient’s quality of life. For the most part, neurofibromatosis does not pose severe risks to the patient and can be monitored using imaging scans, physical scans, and in some cases, biopsy.

No medications available can shrink neurofibromatosis tumors or make them disappear. Once they grow, the only option for removal is surgery. Patients may be prescribed Selumetinib, an oral medication approved by the FDA for the removal of plexiform neurofibromatosis, which is difficult to remove surgically.

In addition, doctors may prescribe radiation and chemotherapy to mitigate malignant tumors. Neurofibromatosis clinical trials are needed for more effective treatments.

What Are Some Recent Breakthrough Clinical Trials For Neurofibromatosis?

2016: Selumetinib in NF1 - This phase 1 trial used an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, called Selumetinib, in children with plexiform neurofibromas that cannot be removed surgically.

Selumetinib was administered to patients twice daily at a dose of 20 to 30 mg per square meter of body surface area for 28 days. The study found that children with NF1 and plexiform neurofibromas benefited from long-term dose adjustment treatment using Selumetinib without toxic side effects.

2021: Cabozantinib for NF1 - This phase 2 trial of NF1-related plexiform neurofibromas investigated the use of cabozantinib and its effects on PN size and the number of differential modulation of kinases. Patients experienced a lower pain intensity and lower pain interference in daily life, but there was no change in global quality of life sores. This data indicates that cabozantinib may be effective at treating NF1-associated PN.