Materiały źródłowe

• #1 Schwannomatosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/schwannomatosis/diagnosis-treatment/drc-20567562

  Treatment for schwannomatosis may include surgery or pain management. You may need regular exams and tests to monitor tumor growth. There is no cure for schwannomatosis. […] Surgery or other procedures may be needed to treat serious symptoms or complications. […] People who have NF2-related schwannomatosis (NF2) and have hearing loss, brain stem compression or tumor growth, may need surgery to remove acoustic neuromas. Complete removal of the tumors can ease pain. […] This procedure delivers radiation to the tumor without the need to cut into the body. Stereotactic radiosurgery might be an option to remove acoustic neuromas related to NF2 while preserving hearing. […] Managing pain is an important part of treatment for SMARCB1- and LZTR1-related schwannomatosis. Your healthcare professional might recommend:

• #2 Schwannomatosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/schwannomatosis

  Schwannomatosis is a group of conditions that cause tumors to form on your nerves. Treatment options are available, with medications and surgery, to help you manage this pain. […] Theres no cure for schwannomatosis. Treatment focuses on managing symptoms. […] Your healthcare provider might recommend taking medications to relieve pain. These vary based on the location and severity of your pain. […] Your provider may consider surgical removal of schwannoma tumors or clinical trials (tests on people) if you have severe pain that doesnt get better with medications. Your provider will assess whether these are safe options for you. Possible risks of surgery include nerve damage and the chance that tumors may grow back after removal. […] Treatment is available to help you manage symptoms. Many people see symptom improvement after taking medications. Others might need surgery to remove the tumors. Theres a risk that tumors could grow back after removal.

• #3 Relief for Symptoms of Schwannomatosis | Dr. H. Weinberg

  https://www.hweinbergplasticsurgery.com/resources-info/schwannomatosis.html

  Regular follow-up visits to observe changes in tumors or new symptoms are essential. Management of the disorder is individualized for each patient and their concerns. Sometimes, tumors can be removed with surgery or electrodesiccation. Tumor removal is best performed by a highly experienced NF surgical specialist. When removed completely, 95% of tumors will not return. Those that do recur may take years to cause symptoms. […] There is no cure for Schwannomatosis at this time, but research and tissue sample collection for research is ongoing. Dr. Weinberg can help you get involved in research studies or help you find additional information or specialists for Schwannomatosis. Please get in touch with our office to schedule a consultation. Our caring and knowledgeable staff will be happy to speak with you.

• #4 Schwannomatosis & NF2-Related Schwannomatosis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/types/neurofibromatosis/schwannomatosis

  Schwannomatosis (shwah-NOH-muh-TOH-sis) is rare. Its linked to a higher risk of getting a type of tumor called schwannomas. Schwannomatosis affects 1 out of every 25,000 to 40,000 people. […] This disease can be treated and managed, but it affects many parts of the body. You may need treatment from different doctors. Its important to get care from a team that works closely together. […] The treatment for schwannomatosis depends on your symptoms. Most often, well monitor the tumors. Well also manage any pain, neurologic problems, changes in gait, hearing loss, and other symptoms. […] If you need treatment, you may have surgery, radiation, or medicine. The treatment plan is based on the kind of tumor you have. […] At MSK, youll be cared for by our many experts in treating schwannomatosis and the tumors this disease can cause. They will be with you to support you before, during, and after your treatment.

• #5 Schwannomatosis – Children’s Tumor Foundation

  https://www.ctf.org/swn/

  There is currently no cure for schwannomatosis, and no medication that has been shown to be effective in treating schwannomas. Management of the condition is based on each individuals concerns. Surgical intervention to remove schwannomas can sometimes be done. Any time surgery is considered for a person with schwannomatosis, it is important that the surgeon is experienced with the condition to ensure the best possible outcome. […] Individuals with schwannomatosis are best served in an NF clinic where multidisciplinary specialists experienced in schwannomatosis can administer pain management protocols that have been shown to be effective for people with this condition. In addition, the psychologic impact of living with chronic pain may lead to depression and anxiety which should be monitored in any individual with schwannomatosis. Interventions such as resiliency training, biofeedback, and other approaches may be beneficial.

• #6 Schwannomatosis – Wikipedia

  https://en.wikipedia.org/wiki/Schwannomatosis

  Schwannomatosis patients represent 2.4% to 5% of patients undergoing surgical resection of their schwannomas. […] If feasible, the schwannomas can be surgically removed. Any tumor-associated pain usually subsides after tumor removal. Damaged nerves and scar tissue can be a result of surgery and pain can be an ongoing problem. […] If surgery is unfeasible, then pain management will have to be used. Schwannomatosis can sometimes cause severe, untreatable pain over time. […] Other than surgery and pain management, there are no other medical treatments available. There are no drugs available to treat schwannomatosis. […] Gamma knife radiosurgery can be performed on head tumors to help stop growth of a tumor, although there is no guarantee that it will work. […] Recently, many advances are being made in the treatment of schwannomas. Of interest is CyberKnife, manufactured by Accuray. Success rates, although limited in data, appear to be in the low to mid ninety percent range. […] As most schwannomas are benign, many doctors will take the „watch and wait” approach and leave the tumors alone until they start causing harmful side effects. Schwannomatosis patients have multiple tumors and the risks of having so many surgeries outweigh the benefits.

• #7 Diagnosis & Treatment – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/schwannomatosis/diagnosis-treatment

  Because there is currently no cure for schwannomatosis, treatment and medical management of the condition often focuses on surgery to remove schwannomas (nerve tumors) and lessen the associated nerve pain. Complete removal of the tumors often helps pain to subside, although the pain may recur if other tumors form. For management of chronic pain that is often associated with schwannomatosis, treatment administered in a multidisciplinary pain clinic is often recommended.

• #8 Pediatric Schwannomatosis – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/schwannomatosis

  There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. […] When tumors are completely removed, pain usually subsides, although it may recur if new tumors form. […] When surgery is not possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

• #9 Treatment Options For Schwannomatosis – Klarity Health Library

  https://my.klarity.health/treatment-options-for-schwannomatosis/

  Firstly it is important to note that treatment for schwannomatosis is symptom-oriented, meaning there is no standard treatment plan applicable to all diagnosed, and instead, intervention should be tailored based on the nature of the condition, and the health and desires of the patient. In the case of surgery, it is opted for in asymptomatic patients who have schwannomas impacting their spinal cord, and it also can be used for patients who exhibit pain due to their schwannomas growing too big. […] In patients with segmental schwannomatosis, which refers to those with multiple schwannomas that occur in only one limb or less than continuous segments of the spine, surgery is an effective option in mitigating the pain related to the condition. […] However, the recurrence or systematic formation of new tumours remains a strong possibility following surgical treatment, as too does the development of a neurological deficit at an increased rate, but this is generally transient and disappears a month after surgery.

• #10 Schwannomatosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/schwannomatosis?lang=us

  Symptom control consists of pain relief. Asymptomatic patients are followed and observed. […] When symptoms of spinal cord compression occur clearly secondary to a schwannoma, surgical intervention is indicated.

• #11 Surgical management of schwannomas in schwannomatosis: a comprehensive analysis of clinical outcomes and determinants of local recurrence in: Neurosurgical Focus Volume 58 Issue 5 (2025) Journals

  https://thejns.org/focus/view/journals/neurosurg-focus/58/5/article-pE2.xml

  Schwannomatosis is a rare genetic predisposition to develop multiple nonintradermal schwannomas affecting the spine and peripheral nerves, excluding vestibular schwannomas. Schwannomatosis-associated schwannomas can present with pain or motor deficits, prompting resection. In this study, the authors reported the clinical characteristics, surgical interventions, and postoperative outcomes of patients with schwannomatosis-related schwannomas treated with resection. […] Resection significantly improved their preoperative symptoms, and GTR was associated with a decreased risk of local recurrence. […] Resection is often recommended to address these symptoms when nonoperative management with analgesics is not successful. […] Our study showed that patients with schwannomatosis-related schwannomas frequently presented with neurological symptoms, including pain, sensory deficits, and motor weakness. Resection significantly alleviates these preoperative symptoms, with GTR being particularly associated with a reduced risk of LR.

• #12 Schwannomatosis Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/schwannomatosis

  Schwannomatosis is a disease that causes schwannomas (nerve tumors). Schwannomatosis can reduce quality of life for some patients, however. Without treatment, the nerve tumors associated with this disease can cause nerve pain and other symptoms. […] The treatment of spinal schwannomas depends on the size, location, and symptoms of the tumor. Small tumors producing no pressure on nearby tissues can often be observed over time with yearly MR. For larger or symptomatic tumors, or tumors showing growth over time, surgical removal is usually recommended. In most patients, complete removal of these tumors can be safely achieved using a surgical microscope, very fine instruments, and an array of microsurgical techniques. In many cases, patients experience an improvement in neurological function. […] In some patients with large dumbbell tumors, spinal stabilization and fusion may be performed following complete tumor removal.

• #13 How is schwannomatosis treated? – Neurofibromatosis Midwest

  https://www.nfmidwest.org/blog/ufaqs/how-is-schwannomatosis-treated/

  There is no one treatment course that is right for everyone with schwannomatosis, and as of yet there are no medications known to be effective against the schwannomas of schwannomatosis. Management recommendations are based on the specific symptoms that a person develops. It is very important to see physicians that are experienced with schwannomatosis, such as at an NF Clinic. […] Some people with schwannomatosis have no active symptoms and are only diagnosed because of the presence of multiple schwannomas. Management for these people can include annual neurologic evaluation and possible imaging as recommended by an experienced schwannomatosis medical care provider. […] For people who experience pain related to schwannomatosis, treatment may include multidisciplinary management of pain. Surgery may be considered to reduce pain in certain circumstances where medication and other interventions have failed. However, surgery may not reduce pain and can in some cases lead to an increase in painful symptoms.

• #14 Neurofibromatosis & SchwannomatosisSecond Opinion IconGroup 9Second Opinion IconGroup 49

  https://www.barrowneuro.org/condition/neurofibromatosis-schwannomatosis/

  While there’s currently no cure for neurofibromatosis (NF), there are numerous treatments to help manage symptoms and possible complications. The best treatment plan for you will depend on the type of NF you’re diagnosed with, the symptoms you’re experiencing, and the severity of your condition. […] For Schwannomatosis, surgical treatment includes: Schwannoma resection: In schwannomatosis, multiple schwannomas can develop and cause chronic pain, necessitating a surgical resection to remove all or part of the tumor. This peripheral nerve surgery involves careful dissection of the schwannoma from the nerve using microsurgical techniques, and nerve function is monitored using specialized equipment to ensure no nerve damage occurs. Resection typically focuses on areas where the schwannomas are causing significant pain or nerve compression.

• #15 ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-022-01086-x

  Surgical resection of tumours seems to be effective on pain control in segmental schwannomatosis patients, but is characterised by a high rate of recurrence. […] The GG recommendations reflect this. […] Lastly, we have specifically included the psychological needs of patients who often have intractable pain that can hugely affect quality of life. […] There is clearly need for future research in schwannomatosis. A clear need is the development of better pain medication. […] In summary we have produced consensus recommendations for people affected or at risk of schwannomatosis that had high levels of agreement through four rounds of Delphi amongst a large peripatetic expert and patient group.

• #16 The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity | Scientific Reports

  https://www.nature.com/articles/s41598-019-49705-w

  Here, we examine the hypothesis that painful SWN cells secrete substances, such as cytokines, into the extracellular space that sensitize neurons and make them easier to excite. Knowledge gained from this study will help pinpoint candidate molecules and pathways that can be targeted for drug development for the treatment of schwannomatosis-related pain. […] The mechanisms driving the pain phenotype in SWN patients are unknown. Patients vary in their presentation of pain and describe their experiences with pain as acute, chronic, localized, or widespread. Pain in SWN patients is classified as inflammatory or neuropathic. The drugs that are available to treat pain are grossly ineffective in this patient population. Currently the standard of care to alleviate pain is to remove the tumor that is thought to be the cause of pain. This is a difficult undertaking. The surgeon must attempt to localize the tumor that is causing pain.

• #17 Schwannomatosis | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/schwannomatosis

  Treatment for schwannomatosis may include surgery or pain management. You may need regular exams and tests to monitor tumor growth. There is no cure for schwannomatosis. […] Surgery or other procedures may be needed to treat serious symptoms or complications. […] People who have NF2-related schwannomatosis (NF2) and have hearing loss, brain stem compression or tumor growth, may need surgery to remove acoustic neuromas. Complete removal of the tumors can ease pain. […] Stereotactic radiosurgery might be an option to remove acoustic neuromas related to NF2 while preserving hearing. […] Managing pain is an important part of treatment for SMARCB1- and LZTR1-related schwannomatosis. Your healthcare professional might recommend: Medicines for nerve pain such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin (Lyrica). […] Researchers are studying medicines that can shrink noncancerous tumors that grow on the hearing and balance nerves in the ears.

• #18 Neurofibromatosis Treatment Options – Klarity Health Library

  https://my.klarity.health/neurofibromatosis-treatment-options/

  Some medications like gabapentin or pregabalin, along with pain relievers and antidepressants, can help ease discomfort.2 Research is ongoing to develop new treatments, including drugs that target specific proteins involved in schwannomas. However, these treatments are still being studied and aren’t widely available yet.2,5

• #19 Neurofibromatosis Treatment Pipeline is Evolving with Potential Therapies

  https://www.delveinsight.com/blog/neurofibromatosis-treatment-outlook

  Schwannomatosis treatment involves functionally limiting schwannomas that can be surgically resected. […] Co-analgetic drugs (amitriptyline, gabapentin, pregabalin) have been found especially useful in Neurofibromatosis pain management associated with neuropathic pain. […] There is no permanent cure for Neurofibromatosis and at present no other effective medical therapy apart from selumetinib is known for Neurofibromatosis. […] Schwannomatosis treatment involves functionally limiting schwannomas that can be surgically resected. […] Genetic investigation of the resected tumor material is of high prognostic relevance, in particular when the diagnosis is initially unclear.

• #20 Optimal delivery of pain management in schwannomatosis: challenges and | TCRM

  https://www.dovepress.com/optimal-delivery-of-pain-management-in-schwannomatosis-a-literature-re-peer-reviewed-fulltext-article-TCRM

  Non-NF2 schwannomatosis is a rare syndrome characterized by multiple benign schwannomas that primarily affect nerve sheaths, with chronic, treatment-resistant pain as the most common symptom. […] No protocol has been established for pain management, and pharmacotherapies, including molecular target therapies, are being evaluated. […] The management of patients with schwannomatosis is primarily symptomatic, with observation as the principal approach for asymptomatic schwannomas. In symptomatic cases, chronic, intractable pain significantly affects the quality of life (QOL), making pain control the primary therapeutic goal. […] To date, no pharmacotherapy specifically for non-NF2-Schwannomatosis has been established, and medications commonly used for neuropathic pain, such as gabapentin, pregabalin, nonsteroidal anti-inflammatory drugs (NSAIDs), tricyclic antidepressants (such as amitriptyline), serotonin-norepinephrine reuptake inhibitors (such as duloxetine), anticonvulsants (such as topiramate and carbamazepine), and short-acting opioids, are also employed in managing pain in non-NF2 schwannomatosis.

• #21 Phase 2 Study of Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis

  https://ctv.veeva.com/study/phase-2-study-of-tanezumab-in-subjects-with-moderate-to-severe-pain-due-to-schwannomatosis

  The primary objective of this study is to determine whether the administration of tanezumab, an anti-nerve growth factor (NGF) antibody, improves pain relief in schwannomatosis patients receiving background non-NSAID therapy. […] The investigators propose to test the efficacy and tolerability of tanezumab as a treatment for schwannomatosis patients with chronic pain who have had inadequate pain relief in a randomized, placebo-controlled trial, which could form the basis of a larger, randomized controlled trial in the future. […] Subject must have moderate to severe pain secondary to schwannomatosis, defined as Score 5 on the Numeric Rating Scale-11 (NRS-11) at Screening. […] Documented history indicating that NSAID therapy has not provided adequate pain relief or subject is unable to take NSAIDs due to contraindication or inability to tolerate.

• #22 Phase 2 Study of Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis

  https://ctv.veeva.com/study/phase-2-study-of-tanezumab-in-subjects-with-moderate-to-severe-pain-due-to-schwannomatosis

  Documented history indicating that opioid treatment has not provided adequate pain relief or subject is unwilling to take opioids, or unable to take opioids due to contraindication or inability to tolerate. […] Documented history indicating that neuropathic pain medications, such as gabapentin, pregabalin, or others, have not provided adequate pain relief or subject is unable to take these treatments due to contraindication or inability to tolerate.

• #23 Schwannomatosis?

  https://www.anausa.org/smf/index.php?topic=4131.0

  Schwannomatosis is a newly recognized neurofibromatosis that is genetically and clinically distinct from NF1 and NF2. […] There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed pain usually subsides, although it may recur if new tumors form. […] Most people have significant pain, which can be managed with medications or surgery. In some extreme cases, pain will be so severe and disabling it will keep people from working or leaving the house. […] When surgery isn’t possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

• #24 Scrambler Therapy for the Treatment of Pain in Schwannomatosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9001870/

  Schwannomatosis patients (SP) suffer from chronic nerve pain that is often inadequately relieved. Scrambler therapy (ST) can relieve neuropathic pain quickly, safely, and inexpensively. We successfully treated a patient who had disabling leg pain with five daily sessions of ST, each for 40 minutes. She had complete relief of pain and hyperalgesia, with return to normal function, by day 5, that has persisted for at least three weeks. […] Scrambler therapy is a relatively new neuromodulatory treatment approach, which has been shown to provide relief from neuropathic pain. […] By nature of its inexpensive minimally invasive methods, scrambler therapy has the potential to be another conservative modality of pain relief for patients with schwannomatosis. […] Scrambler therapy has been used in Europe since 2002, and is effective in other types of neuropathy including transverse myelitis, neuromyelitis optica, chemotherapy-induced neuropathy, Dejerine-Roussy syndrome, low back pain, post-herpetic neuropathy, and others.

• #25 Scrambler Therapy for the Treatment of Pain in Schwannomatosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9001870/

  We report here the first case of schwannomatosis pain successfully treated with Scrambler therapy, that gave quick and long-lasting relief and enabled the person to resume full function. […] Scrambler therapy does not cause anesthesia in the treated area, and sensation remains normal. Treatment can be repeated as often as necessary. […] We believe further research is indicated to determine how best to use this new modality in schwannomatosis and related disorders.

• #26 Treatment Options For Schwannomatosis – Klarity Health Library

  https://my.klarity.health/treatment-options-for-schwannomatosis/

  Therefore, it is important to recognise the holistic needs of the patient that extend beyond the site and size of the tumours, which is why many propose part of their treatment plan also involving a psychological intervention. […] One such intervention that has been trialled to good measure in schwannomatosis patients is an NF-adapted, relaxation response resiliency program (3RP). […] Lastly, upon diagnosis with schwannomatosis, one treatment option is to simply wait, survey and decide in the future whether further treatment is needed. This approach is known as surveillance and it is an equally valid option for many patients for a number of reasons. […] In summary, schwannomatosis is a genetic condition which affects the nervous system due to the development of schwannomas, (often) benign tumours composed of Schwann cells.

• #27 New classification and approaches to the treatment of schwannomatosis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37830475/

  Schwannomatosis occurs as a result of damage to different genes: NF2, SMARCB1, LZRT1, loss of heterozygosity of the long arm of chromosome 22. […] Stereotactic irradiation and surgery are the main treatment options for schwannomatosis. […] However, there is evidence of effective targeted therapy with bevacizumab (inhibitor of vascular endothelial growth factor). Bevacizumab is used in patients with bilateral vestibular schwannomas and high risk of hearing loss, as well as for intramedullary tumor growth control.

• #28 Schwannomatosis – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/schwannomatosis/care-at-mayo-clinic/mac-20567585

  Mayo Clinic’s world-renowned Neurofibromatosis Clinic provides coordinated care for people with schwannomatosis. […] Mayo Clinic specialists also have experience with treatment for schwannomatosis, including surgery, stereotactic radiosurgery, cochlear implants and auditory brain stem implant. […] The Neurofibromatosis Clinic also has genetic counselors who can help you make decisions that are appropriate for you and your family. Counselors can help you consider risks, family goals, and ethical and religious standards when making treatment decisions.

• #29 Treatment Options For Schwannomatosis – Klarity Health Library

  https://my.klarity.health/treatment-options-for-schwannomatosis/

  In instances where tumours grow so large that they are deemed inoperable, or malignant tumours have developed (in cases such as MPNST), radiotherapy can be used to shrink the size of the tumours. […] Research has indicated that for benign spinal schwannomas, stereotactic body radiation therapy (SBRT), which is a high-dose, localised kind of radiotherapy, is effective in controlling the size of the schwannomas and helps manage the symptoms associated with the disease. […] However, there remains a concern in treating patients with a genetic predisposition for the development of tumours with radiotherapy for benign tumours, and a study of 277 NF2 patients found that there was a 6% increased risk, 20 years post-treatment of developing malignant tumours following radiation therapy, compared to NF2 patients who had not undergone the treatment.

• #30 Bevacizumab Treatment for Patients with NF2-Related Schwannomatosis: A Single Center Experience

  https://www.mdpi.com/2072-6694/16/8/1479

  Bevacizumab Treatment for Patients with NF2-Related Schwannomatosis: A Single Center Experience […] In this study, we explored the use of bevacizumab as a treatment for NF2-related schwannomatosis, a condition characterized by the development of schwannomas on both vestibulocochlear nerves. […] This study revealed that the majority of patients experienced either improved or preserved hearing and effective control of the targeted vestibular schwannoma with bevacizumab. […] Supporting previous studies, bevacizumab demonstrated positive effects on hearing, tumor control, and symptoms in NF2-related schwannomatosis, albeit with common adverse events. […] Therefore, careful consideration of an appropriate management strategy is warranted.

• #31 Optimal delivery of pain management in schwannomatosis: challenges and | TCRM

  https://www.dovepress.com/optimal-delivery-of-pain-management-in-schwannomatosis-a-literature-re-peer-reviewed-fulltext-article-TCRM

  A case report indicated that the administration of tetrahydrocannabinol/cannabidiol crystals led to improvements not only in pain but also in the mood and QOL of a patient whose previous pain management, including opioids and antineuropathic drugs, had been completely ineffective. […] Bevacizumab may reduce the tumor size and alleviate pain in non-NF2 schwannomatosis. […] Surgery is indicated for symptomatic schwannomas, such as those causing refractory pain, localized neurological deficits, or spinal cord compression, and tumor resection is often associated with significant pain relief. […] However, some patients experience persistent or recurrent pain postoperatively, which may be caused by preoperative nerve damage from tumor compression, iatrogenic nerve injury during surgery, postoperative soft tissue scarring, or tumor recurrence.

• #32 Repurposed Drug Shrinks NF2-related Schwannomatosis Tumors – InventUMPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–button

  https://news.med.miami.edu/repurposed-drug-shrinks-nf2-related-schwannomatosis-tumors/

  Researchers have evidence that the approved lung cancer drug, brigatinib, may shrink tumors associated with neurofibromatosis type 2 (NF2)-related schwannomatosis. […] The study confirmed 10% of growing tumors and 23% of all tumors shrank and one-third of patients experienced improvement in hearing and pain. […] There are no approved treatments for NF2-related schwannomatosis. Doctors and surgeons manage progressive schwannomas meningiomas, and ependymomas associated with the syndrome with surgery, radiation or off-label chemotherapy. […] The research team found that in response to the small molecule brigatinib, 10% of growing tumors and 23% of all tumors in those studied shrank. Up to one-third of patients experienced objective improvement in hearing and reductions in pain. […] Brigatinib is a well-tolerated oral medication.

• #33 Approved Drug May Be Repurposed to Treat Tumors Resulting from NF2-Related Schwannomatosis

  https://www.massgeneral.org/news/press-release/approved-drug-may-be-repurposed-for-nf2

  Researchers have found promising evidence that brigatinib, a small molecule treatment approved for the treatment of lung cancer, helps to shrink the tumors of patients with NF2-related schwannomatosis. […] The team found that 10% of growing tumors and 23% of all tumors shrunk in response to brigatinib. […] The platform-basket trial design allows rapid evaluation of investigational agents for genetic conditions with multiple manifestations, said Plotkin. In this study, brigatinib seemed to help with different types of tumors in people with NF2-SWN. […] The researchers plan to study other promising drugs in this way to determine whether drug combinations with brigatinib might further improve tumor responses in patients with NF2-SWN. […] We are thrilled to see the promising results of brigatinib in treating NF2-related schwannomatosis, showcasing the power of collaborative partnerships in the fight against rare diseases, says Annette Bakker, PhD, chief executive officer of the Childrens Tumor Foundation.

• #34 Approved drug may be repurposed to treat tumors resulting from NF2-related schwannomatosis

  https://medicalxpress.com/news/2024-06-drug-repurposed-tumors-resulting-nf2.html

  Approved drug may be repurposed to treat tumors resulting from NF2-related schwannomatosis. Patients with a genetic syndrome called NF2-related schwannomatosis (NF2-SWN) have tumors that develop on the covering of the brain or grow along the nerves in the brain, spinal cord, and/or other locations in the body. The trial, which included the Children’s Tumor Foundation, as well as major NF2-SWN expert centers (NYU Langone Health, Johns Hopkins University, Mayo Clinic, University of California, Los Angeles, University of Miami Health System, Dana Farber Cancer Institute), reveals a promising treatment for this rare and relentlessly progressive condition. „The tumors of NFS-SWN can cause a lot of problems, and there aren’t any approved treatments for these tumors yet,” said Plotkin, the executive director of the Pappas Center for Neuro-Oncology at MGH and a professor of Neurology at Harvard Medical School. „Progressive tumors can lead to deafness, weakness, immobility, and even death. We wanted to see if a drug called brigatinib could help patients.” To test brigatinib’s potential against NF2-SWN, Plotkin and his colleagues gave the oral compound to 40 adult and adolescent patients who had NF2-SWN as well as tumors that were getting progressively worse. The team found that 10% of growing tumors and 23% of all tumors shrunk in response to brigatinib. „In this study, brigatinib seemed to help with different types of tumors in people with NF2-SWN.” The researchers plan to study other promising drugs in this way to determine whether drug combinations with brigatinib might further improve tumor responses in patients with NF2-SWN. „We are thrilled to see the promising results of brigatinib in treating NF2-related schwannomatosis, showcasing the power of collaborative partnerships in the fight against rare diseases,” says Annette Bakker, Ph.D., chief executive officer of the Children’s Tumor Foundation.

• #35 Existing Drug Shows Promise as Treatment for NF2- Related Schwannomatosis – Neurofibromatosis Midwest

  https://www.nfmidwest.org/blog/existing-drug-shows-promise-as-treatment-for-nf2-related-schwannomatosis/

  Existing Drug Shows Promise as Treatment for NF2- Related Schwannomatosis. Theres some exciting news for those with NF2-related schwannomatosis (NF2-SWN) that might bring hope to treatment options! A recent study explored the use of Brigatinib, a medication already used for lung cancer, as a potential treatment for NF2-SWN. The results were promising! Brigatinib showed significant benefits for some patients. This research is a big step forward, offering a potential oral medication with good tolerability for managing NF2-SWN. Its a reason to be optimistic about the future of treatment for this condition. […] To read more about this exciting news check out articles from the Miller School of Medicine and The New England Journal of Medicine.

• #36 Screening Trial for Pain Relief in Schwannomatosis, STARFISH Trial – NCIFacebookFollow on XInstagramYoutubeLinkedin

  https://www.cancer.gov/about-cancer/treatment/clinical-trials/search/v?id=NCI-2023-06932

  This phase II STARFISH screening and multi-sub study trial is being done to test the safety, pain responses, and pharmacodynamic activity of multiple experimental therapies simultaneously in patients with schwannomatosis (SWN) and moderate-to-severe pain. […] Therefore, developing a platform to study tumor-induced pain and identify novel strategies that relieve pain in patients with SWN is a significant unmet need. Siltuximab acts by blocking the activity of growth pathways and inflammation in tumors. […] By reducing tumor growth and inflammation, siltuximab may reduce pain associated with schwannomatosis. Erenumab-aooe acts by blocking pain signals in the body. […] This trial may rapidly and efficiently screen therapies for reduction in SWN-associated pain so that they can move on to confirmatory studies for registration purposes.

• #37 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2) | Dana-Farber Cancer Institute

  https://www.dana-farber.org/clinical-trials/19-828

  Eligibility Criteria Specific to SUB-STUDY A (Brigatinib arm): CLOSED TO ENROLLMENT […] Participants must be willing and able to provide written informed consent/assent for the brigatinib arm of the INTUITT-NF2 trial. […] Eligibility Criteria Specific to SUB-STUDY B (Neratinib arm): – Participants must be willing and able to provide written informed consent/assent for the neratinib arm of the INTUITT-NF2 trial.

• #38 Screening Trial for Pain Relief in Schwannomatosis, STARFISH Trial – NCIFacebookFollow on XInstagramYoutubeLinkedin

  https://www.cancer.gov/about-cancer/treatment/clinical-trials/search/v?id=NCI-2023-06932

  PRIMARY OBJECTIVE: I. Determine the analgesic effect of multiple systemic therapies in SWN patients with moderate-to-severe pain. […] SECONDARY OBJECTIVE: I. Assess safety and tolerability of multiple systemic therapies in SWN patients with moderate-to-severe pain. […] EXPLORATORY OBJECTIVES: I. Determine the analgesic effect of multiple systemic therapies in SWN patients with moderate-to-severe pain. […] V. Assess requirement for ongoing pain medications in SWN patients with moderate-to-severe pain treated with multiple systemic therapies.

• #39 Screening Trial for Pain Relief in Schwannomatosis (STARFISH)

  https://www.careacross.com/clinical-trials/trial/NCT05684692

  Trial Title: Screening Trial for Pain Relief in Schwannomatosis (STARFISH) […] This is a placebo-controlled, multi-arm phase II platform screening trial designed to test the safety, pain responses, and pharmacodynamic activity of multiple experimental therapies simultaneously in participants with moderate-to-severe pain due to schwannomatosis (SWN). […] The purpose of this study is to find out what effects, good and/or bad, siltuximab has on schwannomatosis-associated pain. […] Siltuximab was identified as a potential treatment for schwannomatosis tumors in a screen of compounds in a laboratory. Siltuximab is believed to work by blocking the growth signals and inflammation in tumor cells. […] The purpose of this study is to find out what effects, good and/or bad, erenumabaooe has on schwannomatosis-associated pain. […] Erenumab-Aooe was identified as a potential treatment for schwannomatosis pain. Erenumab-aooe acts by blocking pain signals in the body. By blocking pain signals, erenumabaooe may reduce pain associated with schwannomatosis.

• #40 Co-Targeting IL-6 and EGFR signaling for the treatment of schwannomatosis and associated pain | bioRxiv

  https://www.biorxiv.org/content/10.1101/2023.02.06.527377v1

  Patients with Schwannomatosis (SWN) overwhelmingly present with intractable, debilitating chronic pain. There are no effective therapies to treat SWN. […] IL-6 blockade in a therapeutic setting significantly reduces pain but has modest efficacy on tumor growth, iv) EGF signaling is a potential driver of schwannoma growth and escape mechanism from anti-IL6 treatment, and v) combined IL-6 and EGFR blockade simultaneously controlled pain and tumor growth in SWN models. Our findings prompted the initiation of phase II clinical trial (NCT05684692) for pain relief in patients with SWN.

• #41

  https://link.springer.com/article/10.1007/s40487-024-00279-2

  Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The current treatment options for NF2-related schwannomatosis, such as observation with serial imaging, surgery, radiotherapy, and pharmacotherapies, have shown limited effectiveness and serious complications. Therefore, there is a critical demand for novel effective treatments. Gene therapy, which has made significant advancements in treating genetic diseases, holds promise for the treatment of this disease. […] Gene therapy which has displayed encouraging efficacy in preclinical studies holds promise for the treatment of NF2-related schwannomatosis in the future. […] Over the past years, gene therapy, especially gene replacement therapy, has made impressive progress in treating hereditary diseases, including spinal muscular atrophy, monogenic immunodeficiency diseases, Leber congenital amaurosis, and hemophilia.

• #42

  https://link.springer.com/article/10.1007/s40487-024-00279-2

  Gene replacement therapy for NF2-related schwannomatosis directly supplies a functional copy of the mutated or inactivated NF2 gene to augment functional merlin protein re-expression in NF2-deficient tumor cells to treat the disease phenotype caused by the defective NF2 gene. […] The advantage of gene replacement therapy is that it can directly target the driver mutated NF2 gene and restore its function by delivering a functional copy of the NF2 gene to re-expression merlin protein in tumor cells. […] Gene replacement therapy can also be combined with surgical resection and other currently available treatments to achieve potentially synergistic and additive therapeutic effects.

• #43

  https://link.springer.com/article/10.1007/s40487-024-00279-2

  Recently, AAV-based gene replacement therapy has displayed encouraging efficacy in a preclinical schwannoma sciatic nerve xenograft mouse model of NF2-related schwannomatosis. Thus, gene therapy holds potential as an effective and promising therapeutic strategy for NF2-related schwannomatosis in the future. […] New advances in molecular biology and pathogenic genetics study on NF2-related schwannomatosis help to establish novel gene replacement therapy to restore merlin expression, potentially providing an effective treatment for the disease. […] Currently, gene therapy approaches for NF2-related schwannomatosis primarily include suicide gene therapy, gene replacement or augmentation therapy, and gene knockdown and replacement combination approach. […] Although these gene therapy strategies have shown potential in preclinical animal model studies, they still face many specific challenges apart from the traditional challenges for gene therapy such as immunogenicity, delivery vector, manufacturing, and the long-term effects of treatments.

• #44 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2) | Dana-Farber Cancer Institute

  https://www.dana-farber.org/clinical-trials/19-828

  This is a multi-arm phase II platform-basket screening study designed to test multiple experimental therapies simultaneously in patients with NF2-related schwannomatosis (NF2-SWN, formerly known as neurofibromatosis type 2) with associated progressive tumors of vestibular schwannomas (VS), non-vestibular schwannomas (non-VS), meningiomas, and ependymomas. […] Embedded within the Master Study are individual drug substudies. […] Participants must have measurable disease, defined as: – VS, non-VS, or meningioma target lesions that can be accurately measured as at least 1 ml by volumetric MRI scan or in at least one dimension as 10 mm with conventional MRI scan. […] Participant must have a target NF2-related tumor with the following qualities: – Not amenable to surgery due to patient refusal or due to high risk for surgical complications (e.g., damage to nerve function).

• #45 Progress in Schwannomatosis – Children’s Tumor Foundation

  https://www.ctf.org/progress-in-schwannomatosis/

  Clinical trials help identify potential new treatments that will benefit patients living with NF. […] The International Schwannomatosis Database is maintained with the vision of bringing together patients with schwannomatosis who want to help us learn more about this disease with researchers who are sponsoring trials. […] In 2021 the project completed the work of performing an extensive molecular analysis of schwannomatosis tumor samples to identify new therapeutic targets and advance the understanding and management of the disease, with a special focus on pain. […] The NF Preclinical Initiative (NFPI) began in 2008 as the NF Preclinical Consortium (NFPC), a five-year, $7 million program that concluded in 2013. […] The preclinical studies led to multiple clinical trials, many of which are currently underway. One of those clinical trials included the MEK inhibitor selumetinib registration trial. […] The NF Registry is a secure website where people with any type of schwannomatosis or neurofibromatosis can take an active role in the search for better treatments.

• #46 Multidisciplinary Neurofibromatosis and Schwannomatosis Clinic – Neurosurgery | UCLA Health

  https://www.uclahealth.org/medical-services/neurosurgery/conditions-treated/multidisciplinary-neurofibromatosis-and-schwannomatosis

  The UCLA NF/SWN Clinic offers a comprehensive multidisciplinary approach for neurofibromatosis type 1, NF2-related Schwannomatosis (NF2) and other schwannomatosis patients. […] The clinic is designated as an affiliated clinic of the Childrens Tumor Foundation and CTF designated NF1 Specialty Program and Comprehensive Schwannomatosis Center. […] The Neurofibromatosis Tumor Program at UCLA is at the forefront of medical innovation. We are involved in numerous clinical trials to further our understanding of NF tumors and to develop new treatments.

• #47 Adult Neurofibromatosis Type 1 (NF1) and Schwannomatosis Clinic | UCSF Health

  https://www.ucsfhealth.org/clinics/adult-neurofibromatosis-type-1-schwannomatosis

  The UCSF Adult Neurofibromatosis Type 1 (NF1) and Schwannomatosis Clinic brings together specialists with expertise in treating all kinds of NF1 and schwannomatosis, including neurofibromatosis type 2. […] Our goal is to bring our patients the best possible outcomes and quality of life using the latest technologies and treatments. […] The Children’s Tumor Foundation has recognized us as an NF1 and schwannomatosis comprehensive care center for patients with these conditions. […] We provide access to clinical trials (studies of promising new therapies) and are part of the Neurofibromatosis Clinical Trials Consortium, a collaboration among clinical centers that share the goal of improving treatments through clinical trials.

• #48 Neurofibromatosis and Schwannomatosis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/types/neurofibromatosis

  MSKs Neurofibromatosis Clinic offers care from a team of experts. This disease affects many parts of the body, but can be treated and managed. […] MSK offers expert care through its Neurofibromatosis Clinic. This disease can affect many parts of the body. You may have to be treated by many types of doctors. Its important to get treatment from a team that works closely together to coordinate your care. […] The Neurofibromatosis Clinic makes treatment as convenient as possible. You often can get all your visits scheduled for the same day at MSKs main hospital in New York City. Its much easier than juggling appointments on different days. […] MSK neurologists, neuro-oncologists, and neurosurgeons are among the most skilled in the world. Theyre experts in caring for people with complex tumors. […] NF can be treated and managed. There are also promising new medicines. […] The Neurofibromatosis Clinic also works closely with MSK researchers exploring treatments for neurofibromatosis. Our goal is to change their discoveries into new treatments for this disease.

• #49 Schwannomatosis & NF2-Related Schwannomatosis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/types/neurofibromatosis/schwannomatosis

  MSK doctors are leading experts in treating schwannomatosis and NF2-related schwannomatosis. […] Our neurosurgeons are experts in removing complex tumors. […] MSK surgeons are experts in surgery methods that do less harm to your body. For some people, we may recommend minimally invasive surgery. […] Pain management is an important part of your care at MSK. […] Our pain experts will help relieve or manage pain after surgery. […] OurIntegrative Medicine Service(also called complementary therapies) offers acupuncture, meditation, massage therapy, yoga, and exercise. […] MSK has many clinical trials that are looking at new ways to treat schwannomatosis.

• #50 Neurofibromatosis: Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/neurofibromatosis/treatment

  A diagnosis of schwannomatosis is based on ruling out NF2 and includes: […] Managing pain is an important part of schwannomatosis treatment. Medications to treat pain may include: […] Surgical removal of schwannomas may help reduce pain.

• #51 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  While there isnt currently a cure for neurofibromatosis type 2, there have been multiple advances in diagnosing and treating NF2-related tumors. Your healthcare provider can direct you toward the best treatment available for your condition. Treatment could include: […] Surgery to remove tumors or treat cataracts. […] Chemotherapy or radiation therapy like stereotactic radiotherapy to reduce the size of tumors. […] Hearing aids, cochlear implants, an auditory brainstem implant for hearing preservation. […] Assistive devices for vision loss like glasses. […] Mobility devices for symptoms that affect your nerves and movement. […] Medications to manage symptoms like pain. […] Your provider will offer treatment thats ideal for you, as treatment can vary from person to person. In some cases, your healthcare provider may monitor how tumors affect you without treating them if they dont cause symptoms that interfere with your daily routine. Youll likely need at least one physical exam, imaging test, hearing test and vision test per year to keep track of how symptoms affect you.

• #52 Schwannomatosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/schwannomatosis

  A healthcare provider can help you find a treatment plan that works best to manage your symptoms. You may also benefit from meeting with a mental health professional if chronic pain takes a toll on your emotional well-being. Surgery and clinical trials may be an option, so ask your healthcare provider whats available to help you stay ahead of schwannomatosis symptoms.

• #53 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Its very important that your NF2 care is treated by a multidisciplinary team with experience caring for individuals with NF2. The treatment team includes: […] Side effects vary based on the type of treatment. The benefits of treatment must outweigh the risks for each option. […] Talk to your provider about what side effects to look out for before you begin treatment.

• #54 Schwannoma | Other conditions | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/other-conditions/schwannoma

  Treatment depends on where the tumour is in your body and your symptoms. Your specialist may monitor you carefully at first rather than suggest treatment. They will see you regularly and check any symptoms you have. They will examine you at each appointment and you may have some tests. […] The main treatment for schwannoma is surgery to remove the tumour. The type of surgery you have depends on where in the body the tumour is. […] You may have stereotactic radiotherapy or radiosurgery. Both treatments target high doses of radiotherapy to the tumour. […] The treatment you have may include: regular check-up appointments with tests – these may include, MRI scans hearing tests and eye tests, surgery, targeted radiotherapy, pain control. […] Controlling the pain is very important in this condition. Removing the schwannoma by surgery can also help relieve the pain.

• #55 8 Tips for Managing Neurofibromatosis Type 3

  https://drpanossian.com/blog/managing-neurofibromatosis-type-3/

  Individuals with Schwannomatosis may need to take medications to reduce nerve pain or undergo surgery to remove the tumors. […] It is important to discuss all treatment options with your doctor in order to make an informed decision about which option is best for you. Additionally, it is important to stay up-to-date on any new treatments or research related to Neurofibromatosis Type 3 so that you can make the most informed decisions possible regarding your health care. […] Surgical removal of the tumors is often necessary to reduce pain and other symptoms. […] At this time, there is no known cure for schwannomatosis. However, there are treatments available that can help manage the symptoms of schwannomatosis and reduce the risk of further complications. These treatments include medications for pain management and swelling, physical therapy to improve mobility, and surgery to remove the different types of tumors or other growths. […] It is important to note that while there is no cure for this genetic disease, research into potential treatments is ongoing.

• #56 Schwannomatosis NGS Panel | Fulgent Genetics

  https://www.fulgentgenetics.com/schwannomatosis

  Schwannomatosis is a disease in which numerous benign tumors (schwannomas) develop in the nervous system. […] Treatment focuses on helping patients manage pain. In some cases, surgery may be recommended to remove the schwannomas. […] Genetic testing can help clinicians diagnose schwannomatosis and provide more personalized treatment. […] Diagnosing the cause of chronic pain can be a lengthy trial and error process, but genetic testing for patients with a family history of schwannomatosis may lead to faster discovery. […] Genetic testing for schwannomatosis can: Establish or confirm the appropriate diagnosis, Identify risks for additional related symptoms, Connect patients to relevant resources support, Provide information for improved screening and management, Potentially diagnose the cause of unexplained chronic pain, Allow at-risk family members to undergo genetic testing, Provide options for family planning.

• #57 Schwannomatosis patient who was followed up for fifteen years: A case report

  https://www.wjgnet.com/2307-8960/full/v10/i20/6981.htm

  In addition to the tumor tissue on the nerve compression, the patient’s body has suffered pain for a long time, for patients with psychological and physical double blow, which often cause serious psychological disorders, depression and anxiety, leading to some patients losing confidence in treatment and even giving up treatment. […] Therefore, in the future, the pathogenesis of this disease needs to be clarified, new immune drugs and new gene targets need to be found, and these will be an important direction to improve the treatment of this rare tumor. […] This case will further increase our overall understanding of the diagnosis and treatment of this rare tumor.

• #58 The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity | Scientific Reports

  https://www.nature.com/articles/s41598-019-49705-w

  Therefore, alternative strategies for pain therapy must be investigated. […] Collectively, the data presented in our study identify compelling candidate mechanisms by which some SWN tumors, but not others, produce pain. We have demonstrated that CM from painful schwannomas exhibit a differential capacity to sensitize DRG neurons, relative to CM from nonpainful tumors, and that this functional effect is associated with alterations in the expression of several pain-related target genes in the DRG. We also identified several secreted cytokines that may contribute to this effect. Finally, we have obtained evidence that the mechanisms that drive pain in SWN might be heterogeneous between tumors.

• #59 Repurposing Brigatinib to Treat NF2-Related Schwannomatosis – The ASCO Post

  https://ascopost.com/news/june-2024/repurposing-brigatinib-to-treat-nf2-related-schwannomatosis/

  Researchers have found that brigatinib may be effective in treating patients with NF2-related schwannomatosis, according to a recent study published by Plotkin et al in The New England Journal of Medicine. […] The tumors of NF2-related schwannomatosis can cause a lot of problems, and there aren’t any approved treatments for these tumors yet, explained lead study author Scott Plotkin, MD, PhD. […] In this study, brigatinib seemed to help with different types of tumors in patients with NF2-related schwannomatosis, he suggested. […] We are thrilled to see the promising results of brigatinib in treating NF2-related schwannomatosis, showcasing the power of collaborative partnerships in the fight against rare diseases, underscored Annette Bakker, PhD. […] The researchers plan to investigate the efficacy of other drugs using a similar strategy to determine whether drug combinations with brigatinib may further improve tumor responses in patients with the genetic syndrome.

• #60 Approved drug may be repurposed to treat tumours resulting from NF2-Related schwannomatosis – ecancer

  https://ecancer.org/en/news/24927-approved-drug-may-be-repurposed-to-treat-tumours-resulting-from-nf2-related-schwannomatosis

  Approved drug may be repurposed to treat tumours resulting from NF2-Related schwannomatosis. Patients with a genetic syndrome called NF2-related schwannomatosis (NF2-SWN) have tumours that develop on the covering of the brain or grow along the nerves in the brain, spinal cord, and/or other locations in the body. The trial, which included the Childrens Tumor Foundation, as well as major NF2-SWN expert centers, reveals a promising treatment for this rare and relentlessly progressive condition. The tumours of NFS-SWN can cause a lot of problems, and there aren’t any approved treatments for these tumours yet, said Plotkin. Progressive tumours can lead to deafness, weakness, immobility, and even death. We wanted to see if a drug called brigatinib could help patients. Previous studies have shown that a compound called brigatinib has tumour-suppressing properties in cell and animal models of NF2-related diseases. To test brigatinib’s potential against NF2-SWN, Plotkin and his colleagues gave the oral compound to 40 adult and adolescent patients who had NF2-SWN as well as tumours that were getting progressively worse. The team found that 10% of growing tumours and 23% of all tumours shrunk in response to brigatinib. The tumours that were impacted the most were meningiomas located in the brain and non-vestibular schwannomas not along the hearing nerve. The platform-basket trial design allows rapid evaluation of investigational agents for genetic conditions with multiple manifestations. In this study, brigatinib seemed to help with different types of tumours in people with NF2-SWN. The researchers plan to study other promising drugs in this way to determine whether drug combinations with brigatinib might further improve tumour responses in patients with NF2-SWN. We are thrilled to see the promising results of brigatinib in treating NF2-related schwannomatosis, showcasing the power of collaborative partnerships in the fight against rare diseases. This breakthrough highlights the importance of bringing together public institutions, including NCATS, private enterprises, and nonprofit organisations to develop effective treatments that can significantly improve the lives of those affected by NF2-SWN.

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