Schwannomatosis Clinical Trials 2023

What Are Schwannomatosis Clinical Trials?

Schwannomatosis is a condition characterized by the multiple developments of tumors of the sheaths surrounding the nerve fibers. It is part of the family of neurofibromatosis and is sometimes referred to as neurofibromatosis type 3 (NF3).

Peripheral nerve schwannomas are rare, benign tumors, justifying surgical excision in the event of radiological growth or disabling symptoms, with a good result on pain and moderate neurological risk. If 2 or more schwannomas are discovered, the diagnosis of schwannomatosis should be considered. It is a diagnosis of exclusion retained after an MRI assessment of the entire neuraxis.

Schwannomatosis is a rare genetic disease linked to germline mutations of 2 tumor suppressor genes, SMARCB1 and LZTR1, located on chromosome 22, a short distance from the NF2 gene. However, other susceptibility genes remain to be discovered.

Affected patients mainly suffer from chronic pain whose physiopathology remains unknown. That's why researchers from leading research institutes worldwide have been studying this condition to determine its underlying causes and possible prevention and treatment methods.

Why Is Schwannomatosis Being Studied Through Clinical Trials?

Schwannomatosis is a genetic predisposition syndrome to develop multiple schwannomas and, more rarely, meningiomas. They are rare diseases, with the most recent epidemiological data reporting a prevalence of 1 in 126,315 people and an incidence of 1 in 68,956 births. However, research suggests that its incidence may be more common, close to NF2.

Unlike neurofibromatosis, schwannomatosis patients often have nonspecific symptoms. This explains the delay of several years between the appearance of the first symptoms and the diagnosis. The delay is accentuated because the familial forms, involving one of the two parents affected, are much rarer than the sporadic forms, in which neither of the 2 parents is affected. Within these 2 types of clinical forms (familial or sporadic), there is a subgroup of patients with so-called segmental schwannomatosis in which only one limb is affected.

Researchers worldwide have been studying this complex and rare disease to determine safe and effective diagnostic methods and treatments.

What Are The Types of Treatments Available For Schwannomatosis?

The management of patients with a complex form of schwannomatosis is ideally carried out at expert centers that combine clinical management with diagnosis and genetic counseling. On the clinical side, the management of patients with schwannomatosis is centered on the treatment of chronic pain present in most patients. These pains are often poorly localized, presenting themselves by access on a permanent painful background, often unrelated to an underlying schwannoma. Therefore, the treatment is essentially medical, with many cases of stubborn pain, where most patients report using painkillers.

Surgery remains reserved for cases of rapidly growing tumors or causing symptoms. Surgery for peripheral schwannomas in the context of schwannomatosis is accompanied by a lower rate of pain relief with an equally high rate of painful recurrences. Surgery is also associated with more postoperative deficits in patients with schwannomatosis. It may be explained by the excision of multiple tumors during the same procedure in patients with segmental or segmental schwannomatosis.

What Are Some Recent Breakthrough Clinical Trials For Schwannomatosis?

Below are some of the most notable Schwannomatosis clinical trials that are underway:

2023: Efficacy of Tanezumab for treating schwannomatosis-related pain. This is the first clinical trial to test the biological driver of such pain and evaluate tanezumab's effectiveness and safety. The results are expected to provide evidence of improved pain features and quality of life in schwannomatosis patients. Plus, the research will pave the way for future pain studies on other rare diseases.

2023: Efficacy of CAR-T/CTL immunotherapy in treating Schwannomatosis. This clinical trial aims to evaluate the safety and efficiency of immunotherapy in schwannoma patients. The study expects the neurofibromatosis or schwannomatosis tumors to be shrunk or disappear entirely.

Who Are Some of The Key Opinion Leaders & Institutes on Schwannomatosis Clinical Trials Research?

VANESSA L. MERKER, PhD

Dr. Merker is a health services researcher in the Department of Neurology at Massachusetts General Hospital. Her research interests have always been in neurofibromatosis and schwannomatosis. She has conducted multiple trials to improve the quality and accessibility of care for schwannomatosis patients.

SCOTT R. PLOTKIN, MD, PhD

Dr. Plotkin is a Neurosurgical Oncologist at Massachusetts General Hospital. His clinical interests include Neurofibromatosis, among others, and he has contributed to multiple Schwannomatosis clinical trials.