Neurofibromatosis Type 1 Clinical Trials 2023

What are Neurofibromatosis Type 1 Clinical Trials?

Neurofibromatosis type 1 (NF – 1) is a progressive multisystem developmental disorder caused by the gene mutation on chromosome 17. This gene is responsible for coding the protein neurofibromin, a regulator in the RAS pathway, a cell signaling network that controls aspects of cell growth.

NF – 1 is an autosomal dominant disorder; therefore, it is not specific to a particular sex, and the gene mutation can come from either parent. Most signs are visible at birth, but others occur as a person ages, and their body goes through hormonal changes.

Symptoms vary widely from case to case, even within the same family. Still, a few common presentations include reddish-brown spots in the iris (known as Lisch nodules), benign tumors on the skin and nerves, scoliosis, vision disorders, learning disabilities, epilepsy, and café au lait spots. It is not known why some cases are more severe than others. However, it is estimated that for 60% of cases, symptoms are mild enough that a person can still live a normal life.

Why Is Neurofibromatosis Type 1 Being Studied Through Clinical Trials?

Neurofibromatosis Type 1 is the most prevalent inherited neurological disorder globally, as it is seen in 1 in 3000 people. However, its presentation has so much diversity that it is challenging to predict. For some, it can be mild with no visible symptoms, while others have severe disfigurements and mental disabilities. There is currently no cure for this disorder, so healthcare providers prescribe various management treatments to target the symptoms.

Clinical trials are vital to understanding the disorder's underlying mechanisms to better predict a person's possible symptoms. Additionally, trials can develop better therapies to manage the symptoms and one day find a cure.

What Treatment is Available for Neurofibromatosis Type 1?

Neurofibromatosis type 1 (NF – 1) is diagnosed if two or more of the following symptoms are present:

• Optic pathway glioma
• Two are more Lisch nodules
• Freckling in armpit
• Six or more café-au lait spots
• Two or more neurofibroma tumors or one plexiform neurofibroma
• Distinctive osseous lesion

Further tests, such as genetic testing, blood tests, and biopsies, can also be done. Healthcare providers will monitor the symptoms and, based on that, prescribe therapies such as surgery to remove tumors, medication to control symptoms, physiotherapy, and pain management.

What are Some Recent Neurofibromatosis Type 1 Clinical Trial Breakthroughs?

2011: This clinical trial studied the effectiveness and safety of selumetinib, a kinase inhibitor, in children (ages 2 – 18) with neurofibromatosis type 1 and inoperable plexiform neurofibroma. Preliminary results showed selumetinib shrunk the growth without increasing morbidity. Also, no new plexiform neurofibroma-related symptoms arose, and tumor-related pain decreased.

2014: This study tested the effectiveness of the MEK inhibitor PD-0325901 (mirdametinib) in reducing growth and pain for patients with neurofibromatosis type- 1 and plexiform neurofibromas. The finding showed 42% of patients had a partial response and 53% stabilized. Only one patient showed progression. All patients showed a reduction in pain.