Materiały źródłowe

• #1 Neurofibromatosis type 1 – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

  There isn’t a cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome. […] Many complications of NF1 can be treated effectively if therapy starts early. […] Selumetinib (Koselugo) is a treatment approved by the U.S. Food and Drug Administration for plexiform neurofibroma in children. The medicine can shrink the size of a tumor. Clinical trials of similar medicines are currently being done for children and adults. […] Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. […] Cancers related to NF1 are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome. […] Researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.

• #1 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Although patients with neurofibromatosis type 1 (NF1) can be cared for in the primary care setting, additional medical concerns need to be addressed on a routine basis. […] Annual examinations should focus on potential complications of NF. Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities. Neurologic evaluation should include a careful history for headaches or motor or sensory symptoms as well as a comprehensive motor and sensory examination. […] Annual ophthalmologic examinations should check for optic nerve pallor, visual acuity changes, visual field defects, and Lisch nodules. Patients should be referred to an ophthalmologist promptly if the treating physician has any concerns about visual acuity, evidence of proptosis, or a palpebral plexiform neurofibroma obstructing vision.

• #1 Neurofibromatosis Type 1 | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/genetic-syndromes/neurofibromatosis-type-1.html

  Although most of the tumors related to NF1 are not cancerous, people with NF1 should be monitored for development of these tumors. Some non-cancerous tumors cause problems. Vision loss can occur from optic pathway gliomas. Neurofibromas may cause nerve damage. It is important to carefully monitor neurofibromas for signs they are becoming cancerous. Early screening and detection allow the best outcome for patients. […] The following lifelong screenings are recommended for children with NF1: Yearly physical exams that include blood pressure monitoring by a doctor who knows this condition well; Yearly vision screening by an ophthalmologist (eye specialist) in early childhood, which can become less frequent as the child gets older; Regular assessments of development and school progress, as suggested by your childs doctor; Regular monitoring of any abnormal problems of the central nervous system, skeletal system, or heart and blood vessels, as suggested by a specialist in one of these areas; Baseline MRI of the whole body when transitioning to adult care. […] As a child moves into adulthood, they may need more screenings for breast cancer and signs of a malignant peripheral nerve sheath tumor. […] It is important to continue to have regular physical check-ups and screenings. That way, any cancer can be found early and at the most treatable stage.

• #1 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Blood pressure should be checked at each visit and hypertension treated promptly if detected. […] Removal of neurofibromas for medical or cosmetic indications is one of the most common procedures on individuals with NF1. […] Recent advances in laser technology have permitted nonsurgical removal of small, cutaneous neurofibromas. […] Both selumetinib and mirdametinib are MEK inhibitors approved for the treatment of symptomatic plexiform neurofibromas in patients with NF1 who are not eligible for complete surgical removal. […] The use of chemotherapy, especially with carboplatin and vincristine have been shown to be effective in controlling the progression of optic nerve gliomas. […] Surgical resection of neurofibromas can be accomplished, but plastic surgery consultation is advisable for areas of great cosmetic concern such as the face.

• #1 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals. […] Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

• #1 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension. […] Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. […] Annual examinations permit early detection of problems, decreasing morbidity and improving quality of life. […] Annual eye examinations are important in early detection of optic nerve lesions. […] Cutaneous examination performed at each visit should look for new neurofibromas or progression of preexisting lesions. Plexiform neurofibromas may be locally invasive, therefore clinical evaluation should be directed at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment.

• #1 NF Treatments – Children’s Tumor Foundation

  https://www.ctf.org/nftreatments/

  The U.S. Food and Drug Administration (FDA) approved Koselugo (selumetinib) for use in patients with inoperable plexiform neurofibromas, a common manifestation in NF1. […] Koselugo’s approval followed comprehensive clinical testing of the drug in patients at the National Cancer Institute (NCI), a division of the National Institutes of Health (NIH). In those clinical trials, over 70% of NF patients with inoperable plexiform neurofibromas saw tumor size reduction anywhere from 20-60% in size. […] The groundbreaking use of MEK inhibitors as a treatment for NF tumors began with early-stage discoveries funded by the Children’s Tumor Foundation (CTF). […] CTF has funded groundbreaking preclinical work and early clinical studies that have moved forward into treatment trials, and ultimately led to the first FDA-approved drug for NF1.

• #1 Breakthrough Treatment Brings Hope to Children with Tumor Disorder | NIH Intramural Research Program

  https://irp.nih.gov/blog/post/2021/08/breakthrough-treatment-brings-hope-to-children-with-tumor-disorder

  For the first time ever, we were able to show that in the majority of patients, not only did the tumor stop growing, but there was actually shrinkage, Dr. Widemann says. […] In preparation to apply for FDA approval, Dr. Widemanns team also utilized data from a natural history study of NF1, which provided a baseline understanding of how plexiform neurofibromas progress without treatment. […] The FDA approved selumetinib as a treatment for children with NF1 and inoperable symptomatic plexiform neurofibromas in April 2020, with approval in Brazil and Europe following in 2021. […] Together, they are moving forward with clinical trials to see if selumetinib is effective in adults with NF1, as well as looking for an effective therapy for patients whose NF1 tumors become aggressively cancerous.

• #1 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs

  https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns

  Mirdametinib shows significant efficacy in reducing tumor volume and improving quality of life in NF1-PN patients. […] The ReNeu trial is the largest multicenter study for NF1-PN, demonstrating mirdametinib’s potential as a systemic therapy. […] Mirdametinib has been granted FDA priority review, with a decision anticipated by February 2025. […] MEK inhibitors like mirdametinib could play roles in post-surgical adjuvant therapy and secondary prophylaxis for NF1-PN. […] The treatment arsenal for patients with neurofibromatosis type 1 associated symptomatic inoperable plexiform neurofibroma (NF1-PN) has historically lacked effective alternatives to surgery. […] Now, the emerging class of MEK inhibitors, driven by recent data with mirdametinib, could provide a much-needed systemic therapy for both adults and children with this disease.

• #1 New treatment advances in NF1-PN

  https://www.medicalnewstoday.com/articles/nf1-pn-treatment-advances

  The approval of selumetinib considered the results of the SPRINT study, which included 50 children and adolescents ages 2 to 18 years. In this study, 72% of participants responded to treatment, meaning their tumor volume shrunk by at least 20% with selumetinib. […] The success of selumetinib in NF1-PN has spurred research into the use of other MEK inhibitors, including mirdametinib, for treating the condition. […] In this study, 42% of people had at least 20% shrinkage in tumor volume with midrametinib treatment, and an additional 53% had stable disease (no change in tumor size). Participants also reported reductions in pain intensity. […] Various other MEK inhibitors, such as trametinib and binimetinib, have been or are currently being studied for their use in NF1-PN treatment. […] The approval of selumetinib has revolutionized the treatment of children with inoperable NF1-PN tumors. Following this important advancement in the NF1 treatment paradigm, researchers have been studying various other MEK inhibitors for their use to help treat both children and adults. […] While more work is still necessary, these efforts represent important advancements in the treatment of NF1-PN, particularly for individuals with previously limited options.

• #1 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs

  https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns

  The phase 2b ReNeu trial evaluated the efficacy and safety of this highly selective, oral, investigational MEK1/2 inhibitor mirdametinib in both adult and pediatric patients with inoperable NF1-PNs causing significant morbidities. […] Findings presented during the 2024 ASCO Annual Meeting showed that mirdametinib generated significant responses, with deep, durable reductions in tumor volume; improvements in pain severity, pain interference, and health-related quality of life (QOL); and a manageable safety profile. […] The agent was granted priority review status by the FDA in August 2024 for use in adult and pediatric patients with NF1-PN, with a decision date of February 28, 2025. […] If approved, mirdametinib will definitely be integrated into treatment approaches quickly, because right now we don’t have any FDA-approved agents for adults with PNs.

• #1 Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-023-10996-y

  Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. […] There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. […] Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. […] In general, surgery remains the treatment of choice if the PN can readily be resected without significant morbidity. […] Medical therapy can be a useful option in symptomatic and inoperable NF1-PN. […] Currently, the only approved medical therapy for NF1-PN is selumetinib, which is indicated for the treatment of pediatric patients (aged 2 years in the US and aged 3 years in Europe) with NF1 who have symptomatic, inoperable PN.

• #1 Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-023-10996-y

  Another key consideration in clinical decision making is that younger patients appear to be more likely to benefit from early initiation of a MEK inhibitor. […] The optimal duration of therapy with a MEK inhibitor is still unknown. […] The availability of medical therapy as another treatment option to surgery introduces additional dimensions in clinical decision making and management considerations. […] A recently approved medical therapy option has demonstrated promising efficacy with significant shrinkage of PN, sustained PRs, and improvements in patient-reported outcomes in pediatric patients with symptomatic, inoperable NF1-PN.

• #1

  https://link.springer.com/article/10.1007/s11912-024-01527-4

  Beyond PNs, MEKi is under investigation for additional NF1 manifestations, including atypical neurofibromas, MPNSTs, cutaneous neurofibromas, LGGs, and juvenile myelomonocytic leukemia. […] Clinical trials indicate reduced pain in PNs, hinting at the MEK pathways role in NF1-related pain and suggesting that the tumor microenvironment plays an instrumental function in NF1-PN pathogenesis. […] Despite MEKis promise, many challenges remain including dosing strategies, heterogenous responses, treatment resistance, and long-term safety persist, underscoring the need for additional research. […] The mTOR pathway is hyperactivated in NF1-deficient tumors. Sirolimus, an FDA-approved mTOR inhibitor, was tested for PNs in a Phase 2 clinical trial, leading to increased time to progression but no significant difference in tumor volume.

• #1 Targeted genetic and molecular therapies in neurofibromatosis – A review of present therapeutic options and a glimpse into the future – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/targeted-genetic-and-molecular-therapies-in-neurofibromatosis-a-review-of-present-therapeutic-options-and-a-glimpse-into-the-future/

  Regarding plexiform neurofibromas, studies with receptor tyrosine kinase inhibitors showed efficacy and nilotinib was found to have a lesser adverse effect profile than Imatinib. […] The FDA approved the use of selumetinib for pediatric, inoperable plexiform neurofibromas on April 10, 2020. […] The mammalian target of rapamycin C1 inhibitor, sirolimus, showed efficacy in phase II clinical trials and the MEK inhibitor PD0325901 also showed promise. […] The randomized crossover trial of Tipifarnib, which acts by Ras inhibition, was not found to increase time to progression significantly. […] Tranilast, an inhibitor of epithelial-mesenchymal transition signaling, which is a factor involved in downregulation of E-cadherin and extracellular matrix production was noted to have antiproliferative action in preclinical trials.

• #1 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  One of most common challenges for individuals with NF1 is living with chronic pain. […] Given the many pain-related symptoms and complications in individuals with NF1, it is important to let your doctor know about any pain you have. It is ideal to work with a physician who has expertise in NF1. […] Many researchers are developing and investigating drugs that they hope will prevent tumor growth and ultimately shrink the size of PNs. But right now, the main treatment is surgical removal of the tumors. […] NF1-related symptoms sometimes can be managed with pain medication, including nonsteroidal anti-inflammatory drugs (NSAIDs, such as ibuprofen), anticonvulsants (such as Neurontin), and narcotics (such as morphine and oxycodone). […] So far, no research about psychological methods for managing pain in NF1 has been published. […] Yoga has been found helpful among adults with arthritis, low back pain, and other conditions. […] Any of the above techniques should be done in consultation with an appropriate health professional, such as a physician or psychologist.

• #1 Pediatric Neurofibromatosis Tumors – Conditions and Treatments | Children’s National Hospital

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

  Treatment options for neurofibromatosis tumors will vary depending on the location of the tumor. Some potential treatments include: observation, surgery, chemotherapy. […] In children with neurofibromatosis type 1 with an isolated optic nerve tumor, treatment choices at the time of diagnosis include: observation alone, surgery or chemotherapy. Radiotherapy is infrequently used due to concerns over long-term medical complications of such treatment, including the development of secondary tumors. […] In situations where the vision is retained but the tumor is progressing, or where there is extensive intracranial disease, chemotherapy is often extremely effective. The chemotherapy regimen, which has been found to be most successful in children with neurofibromatosis type 1 and visual pathway gliomas, is the combination of carboplatin and vincristine (chemotherapy drugs). […] In those cases when surgery cannot be performed safely, chemotherapy is often beneficial for children with NF1 and low-grade gliomas. The chemotherapy is the same type that is used in children with visual pathway gliomas; the combination of the carboplatin and vincristine is often quite effective.

• #1 Neurofibromatosis-1: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000847.htm

  There is no specific treatment for NF1. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). The drug selumetinib (Koselugo) was approved by the US Food and Drug Administration in 2020 for use in children with severe tumors. […] Some children with learning disorders may need special schooling.

• #1 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention. […] For many patients, neurofibromas on the scalp, along the hairline, or around the waist where clothes rub can cause great irritation and discomfort. Therefore, removing these should not be considered cosmetic but a necessary medical procedure. […] Acting promptly when neurological symptoms appear is important to maximize operative success. […] Surgical intervention may not guarantee a complete resection of the tumor, but it may serve a palliative function in some cases. […] Orthopedic intervention is indicated for rapidly progressive scoliosis and for some severe bony defects. […] Some hypertensive patients with renal artery stenosis require surgical resection and repair instead of or following angioplasty. […] Resection of a pheochromocytoma requires preoperative treatment with an alpha-blocker (preferably a selective postsynaptic alpha1-receptor antagonist) to offset the effects of catecholamine release during surgical manipulation of the tumor.

• #1 Advanced pharmacological therapies for neurofibromatosis type 1-related tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7975824/

  Neurofibromatosis Type 1 (NF1) is an autosomal dominant tumor-predisposition disorder that is caused by a heterozygous loss of function variant in the NF1 gene, which encodes a protein called neurofibromin. The treatment of these complications is often challenging, since surgery may not be feasible due to the location, size, and infiltrative nature of these tumors, and standard chemotherapy or radiotherapy are burdened by significant toxicity and risk for secondary malignancies. […] For these reasons, in the era of precision medicine, novel targeted therapies are highly demanded. In this review, we will briefly summarize the recent advances in the pathophysiological understanding of NF1-associated tumors and the available evidence for new emerging drugs. […] Resective surgery is the first line therapeutic option for most of the NF1-associated oncological complications. However, satisfactory results are not always achieved due to local extension and invasion of vital areas, tumor size, and risk of postoperative regrowth. On the other hand, the use of chemotherapy and radiotherapy is limited by high toxicity rates in NF1 patients.

• #1 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Patients with NF2 should have similar routine examinations and care. Known growths are often imaged with periodic surveillance scans with treatment reserved for enlarging or symptomatic growths. […] There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy. Although surgery in these areas can cause further injury to nerves and additional neurological problems, it is usually well tolerated. The benefits of surgery should always be weighed against its risks. Likewise, in situations where radiation treatment is an option, the risks and benefits must be carefully considered.

• #1 Surgical & Cosmetic Dermatology | Treatment of neurofibromatosis NF-1 with CO2 laser – case report

  http://www.surgicalcosmetic.org.br/details/706/en-US/treatment-of-neurofibromatosis-nf-1-with-co2-laser—case-report

  Type 1 neurofibromatosis has multiple cutaneous lesions and limited treatment options. CO2 laser is a useful tool for the removal of neurofibromas, the main source of cosmetic disfiguration for these patients. […] The treatment of this cutaneous alteration is predominantly surgical, however alternative treatments should be considered for patients with multiple lesions usually above 100 in whom surgical intervention is not possible or desirable. CO2 laser has been shown to be effective in the treatment of large to medium neurofibromas in large numbers, with similar or better aesthetic outcomes than those obtained with surgical excision. […] The standard procedure for the removal of NF1 lesions is surgical excision, which has the advantage of leading to a linear scar. Disadvantages are longer procedure durations and greater risk of bleeding. In light of this, CO2 laser treatment is more suitable for the removal of large numbers of lesions with reasonable aesthetic outcomes and low risk of complications. […] Although there is no effective treatment to revert lesions characteristic of NF1, CO2 laser is an option associated to a high level of patient satisfaction and swiftness in the approach of lesions, allowing to treat a large number of lesions per session, with a low risk of complications.

• #1 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Theres currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. […] Treatment will depend on your symptoms and may include: […] medicine to stop tumours growing […] surgery to remove tumours that are at risk of causing problems […] using a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy).

• #1 Neurofibromatosis

  https://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/neurofibromatosis/

  Management of NF1 includes assessing the skin to look for new neurofibromas or progression of existing lesions. […] Surgery can be used to remove tumors causing pain, and neurofibromas pressing on vital structures need special attention. […] Depending on a patients symptoms, treatment for NF2 varies. Numerous nonsurgical treatments are available for vision and hearing problems. Physical or occupational therapy may be useful for balance problems. […] Surgery is the first-line treatment for most types of NF2 peripheral nerve tumors. Implantation of a cochlear implant is useful for those who are hard of hearing or deaf. […] Surgery to remove peripheral nerve tumors may be recommended to relieve symptoms of pain. Non-operative treatments focus on pain management, especially for tumors which are inoperable. Pain management medications may include drugs for nerve pain, such as gabapentin. […] Potential future treatments are currently being researched, including gene therapies for NF1. A potential therapy would include replacing the NF1 gene to restore its proper function.

• #1

  https://link.springer.com/article/10.1007/s11912-024-01527-4

  A recently completed Phase 2 trial investigated a combination therapy of sirolimus plus MEKi for unresectable or metastatic MPNSTs, and final trial results are eagerly anticipated. […] Following NF1 loss, additional genetic hits are required for malignant transformation of benign nervous system tumors into their malignant entities. […] The CDK4/6i abemaciclib demonstrated synergistic anti-tumor effects when combined with the ERKi LY3214996 for PN treatment in vivo. […] These findings suggest that CDK4/6 inhibition combined with targeted therapies may offer an improved treatment strategy. […] Overall, targeting PRC2 loss holds significant promise for enhancing existing strategies for NF1-deficient tumors by increasing cytotoxicity and limiting the development of drug resistance. […] Promising preclinical approaches leveraging pharmacologic advances to investigate gene therapy, directly targeting Ras, or reestablishing immune system function with cellular CAR-T therapies, checkpoint inhibitors, or oncolytic viral therapy are areas of active investigation that offer potential for the next generation of therapeutics.

• #1 Rationale for haploinsufficiency correction therapy in neurofibromatosis type 1

  https://www.oaepublish.com/articles/jtgg.2022.14

  NF1-HCT represents a potential NF1 treatment. By normalizing the level of WT neurofibromin in all NF1-haploinsufficient cells, NF1-HCT is expected to normalize cell function and consequently reverse, prevent or delay the development of NF1 manifestations. […] Given that neurofibromin regulates many unrelated effectors that are associated with a variety of NF1 manifestations, any therapy targeting just one effector is expected to correct only a small subset of manifestations. […] For example, drugs targeting specific RAS effectors (e.g., MEK) are unlikely to correct RAS-independent cognitive deficits mediated by dopamine, cAMP and HCN1, or manifestations arising from other (non-MAPK) RAS pathways. […] However, an NF1-HCT that normalizes neurofibromin levels in all NF1+/- cells is expected to correct all neurofibromin-regulated pathways and benefit the wide range of NF1 manifestations – including both RAS-dependent and RAS-independent mechanisms. […] The essential role of NF1-haploinsufficiency in the disease phenotype, whether acting singlehandedly or in concert with complete loss of function, makes NF1-HCT a promising strategy, with the potential to prevent, reverse or delay virtually all NF1 manifestations.

• #1

  https://link.springer.com/article/10.1007/s11912-024-01527-4

  Gene therapy through adeno-associated viral (AAV) vectors offers a potentially curative approach aimed at NF1 gene reconstitution. […] However, numerous open questions remain regarding gene targeting specificity, efficient delivery, and maximum therapeutic payload size that require further research to harness the potential of neurofibromin reconstitution. […] CAR-T cell therapy engineers T-cells with the ability to target overexpressed antigens specific to cancer cells and has revolutionized the treatment of cancer types, primarily hematologic malignancies such as leukemia and lymphoma. […] Ongoing clinical trials are evaluating the efficacy of adjuvant nivolumab along with CTLA-4 checkpoint inhibitor ipilimumab for newly diagnosed MPNSTs. […] OV therapy is another promising approach for NF1-associated tumors. A measles virus-based OV approach shows efficacy in MPNST cells, leading to a Phase 1 trial underway to investigate the clinical efficacy of this technique.

• #1 Neurofibromatosis, Type 1 (NF1) – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/neurofibromatosis-type-1-nf1/

  Focused ultrasound is a rapidly evolving, therapeutic technology that could transform the quality of life and decrease the cost of care for patients with neurofibromatosis, type 1 (NF1). […] The primary options for treatment of NF1 include medication and invasive surgery. For certain patients, focused ultrasound could provide a non-invasive alternative to surgery with less risk of complications and lower cost. […] Focused ultrasound treatment for NF1 is covered under the European CE Mark, so it may be covered by medical insurance companies.

• #1 Neurofibromatosis Type 1 (NF1): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14422-neurofibromatosis-type-1-nf1

  A healthcare provider can help you manage your symptoms. There isnt a cure for neurofibromatosis type 1. Treatment varies based on how your symptoms affect you and may include: […] Tumor removal surgery. […] Chemotherapy for tumors that develop into cancer. […] Surgery or support (braces) for bone growth abnormalities. […] Medications to treat tumor growth (selumetinib). […] Medications to manage symptoms (like ADHD). […] If you have NF1, you should have at least one regular medical check-up every year, along with an annual ophthalmologic (eye) examination. […] Many people also manage the effects of the condition on their mental health by speaking with a mental health professional or joining a support group. […] Side effects vary based on what type of treatment you need. Your healthcare provider will discuss possible side effects of treatment with you before you begin. For example, side effects of surgery may include bleeding and infection. Side effects of chemotherapy may include hair loss and fatigue. […] Your care team can help you find a treatment option thats right for your situation.

• #1 Neurofibromatosis Treatment Pipeline is Evolving with Potential Therapies

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

  Neurofibromatosis type 1 treatment for other conditions is aimed at controlling or relieving symptoms. Headache and seizures are treated with medications. Vitamin D3 deficiency, if present, should be substituted. Genetic counseling is especially important. Cognitive deficits and developmental delays should be recognized early and addressed with suitable special-needs education. […] There is no permanent cure for Neurofibromatosis and at present no other effective medical therapy apart from selumetinib is known for Neurofibromatosis. Also, the treatment does not assure a complete cure and involves constant medication throughout the therapeutic course. […] There is an urgent need for better therapies for the treatment of malignant peripheral nerve sheath tumors as well as other cancer types that can be associated with Neurofibromatosis. A large proportion of children diagnosed with Neurofibromatosis type 1-related plexiform neurofibromas have no appropriate treatment available to them and represent a significant unmet medical need.

• #1 Neurofibromatosis | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/n/neurofibromatosis

  NF1 Treatment: Scientists have not discovered a cure for neurofibromatosis 1 yet, but they are developing more effective treatments. One example is a new way to treat inoperable plexiform neurofibromas that uses a drug called selumetinib (also known as Koselugo). This drug can partially shrink plexiform neurofibromas in about 70% of patients who are treated with it. […] Other treatment for NF1 focuses on managing symptoms. For example: If the child has migraines, a pediatric neurologist will provide a complete evaluation and may prescribe medicine. If the child has bone or skeletal abnormalities, a pediatric orthopaedic specialist can provide care. Bracing or surgery may be recommended for scoliosis. A leg brace may be recommended for tibial dysplasia. If the child is having learning issues or behavior problems at school, the care team may recommend a full neuropsychological exam. School-based services can help the child thrive. If the child is experiencing emotional distress because of their condition, mental health counseling may help.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Neurofibromatosis-Type-1-Treatment.aspx

  Learning difficulties may be addressed by a team of specialists including a speech and language therapist, an educational psychologist and an occupational therapist. […] For those with behavioral problems such as attention deficit hyperactivity disorder (ADHD), approaches such as counselling and psychotherapy can help patients find ways to cope with the condition and medications such as methylphenidate can help improve concentration and attention span. […] Moderate hypertension can usually be brought under control though lifestyle changes such as reducing salt intake, exercising regularly and maintaining a healthy body weight. In cases of very high blood pressure, however, medications such as angiotensin-converting enzyme (ACE) inhibitors may be prescribed. […] While mild scoliosis may correct itself over time, moderate cases may require a brace to correct the spines position and in severe cases, surgery may even be required to realign the vertebrae. […] Various different treatments are available to help reduce epileptic seizures.

• #1 Neurofibromatosis Type 1 Treatment | UVA Health

  https://uvahealth.com/services/neurocutaneous/neurofibromatosis-type1

  At UVA Health, we understand neurofibromatosis type 1 is an ongoing illness that needs lifelong care. Our expert team has the experience and expertise needed to help adults with this condition. […] Our team at UVA Health brings together all the specialties needed to care for neurofibromatosis type 1, including neurologists, neurosurgeons, genetic counselors, oncologists, orthopedic surgeons, and therapy specialists. […] Everyone with neurofibromatosis 1 is different. Well work together to make a treatment plan to meet your individual needs. […] Theres no cure for neurofibromatosis type 1. But we can treat your symptoms to help you feel more comfortable with less pain. This may include medications. […] At UVA Health, you can get: Physical therapy to strengthen your body and reduce pain, Occupational therapy to make everyday tasks easier, Speech therapy to help you communicate, Counseling for help with stress from your illness and any mental health issues. […] If you have tumors that are making it hard to function, we may do surgery to remove them. Whether we do surgery depends on where your tumor is and how big it is. Our neurosurgeons are experts in removing tumors without hurting healthy tissue nearby.

• #1 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Physical therapy can be pivotal in symptom management for neurofibromatosis. It helps improve muscle strength, coordination, and flexibility, which are often compromised by tumor growth on nerves. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. This allows for early detection of new symptoms or changes in existing ones and timely intervention. […] Education plays a pivotal role in managing neurofibromatosis. It is essential for patients and their families to have a comprehensive understanding of this complex medical condition, its potential impact on daily life, and the various treatment options available.

• #1 Neurofibromatosis Type 1: Optimizing Management with a Multidisciplina | JMDH

  https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH

  Neurofibromatosis Type I (NF1) is a complex genetic condition that affects multiple organ systems and presents a unique set of challenges for clinicians in its management. […] This review underscores the importance of a multidisciplinary approach to NF1, emphasizing how such an approach can significantly improve patient outcomes and overall QOL. […] Central to this approach is the role of the NF expert, who guides a multidisciplinary team (MDT) comprising healthcare professionals from many areas of expertise. […] The MDT collaboratively addresses the multifaceted needs of NF1 patients, ensuring comprehensive and personalized care. […] This review highlights the need for further investigation to optimize the workflow for NF1 patients in an MDT setting, and to improve implementation and efficacy.

• #1 Neurofibromatosis Type 1: Optimizing Management with a Multidisciplina | JMDH

  https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH

  The management of NF1 requires a multidisciplinary approach involving various medical specialties. […] There is a clear benefit of this team being led by an NF specialist in that this ensures diverse aspects of the patients care are coordinated effectively. […] A designated NF clinic, therefore, serves the patient as a home-base and a portal for access to multidisciplinary care, making coordination far more seamless for both patient and provider. […] The multidisciplinary approach benefits not only patients but also educates and builds trust amongst physicians thereby fostering a collaborative environment that facilitates knowledge sharing and outcomes learning amongst healthcare professionals. […] In conclusion, it is imperative to underscore that the management of NF1 is most effectively undertaken through the utilization of an MDT, ideally spearheaded by an expert in NF.

• #1 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  There’s no cure for NF1, but treatment can make it easier for a child to live with its symptoms. […] Children with NF1 are cared for by a team that includes specialists in: neurology: for problems with the nerves, brain, and spinal cord; plastic surgery: to treat appearance concerns; oncology: to treat or remove tumors; ophthalmology: for eye problems; orthopedics: for bone problems; endocrinology: for hormone problems; psychiatry and behavioral health: to help with behavior and attention issues. […] Research continues into better treatments for people with NF. Ask if your child might be a candidate for a clinical trial that’s testing a new treatment option.

• #1 Progress in NF1 – Children’s Tumor Foundation

  https://www.ctf.org/progress-in-nf1/

  The number of clinical trials for NF has increased to three times the number of trials from just a decade ago. […] Through this initiative, an NF1 platform trial protocol is being defined and finalized and will be operationalized through CTF and the Global Coalition for Adaptive Research. It will initially focus on treatments for plexiform neurofibromas, cutaneous neurofibromas, optic pathway gliomas (OPG), and non-OPG low-grade gliomas. […] The Childrens Tumor Foundation (CTF), in collaboration with CureNFwithJack (CNFWJ), is funding the next phase of an innovative biomarker project aimed at revolutionizing the detection and monitoring of cancerous tumors in patients with neurofibromatosis type 1 (NF1). […] The NFX-179 treatment is for cutaneous neurofibromas (cNF), which are tumors that grow in the skin or right underneath the skin, and result in severe, disfiguring bumps on the skin.

• #1 Comprehensive Neurofibromatosis Clinic | Children’s Hospital Los Angeles

  https://www.chla.org/neurological-institute/programs-and-services/comprehensive-neurofibromatosis-clinic

  Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerves anywhere in the body. If your child is diagnosed with NF, you want a dedicated team of experts to guide you in the most current NF management and treatment protocols. The Comprehensive Neurofibromatosis Clinic (NF Clinic) at Childrens Hospital Los Angeles provides the highest level of care. […] Our team of NF specialists are dedicated to providing excellence in NF clinical care based on the most current management guidelines. […] After consulting with one of our neurofibromatosis experts, you may receive recommendations for additional care. Your child will receive comprehensive, coordinated treatment from experts who specialize in: […] Childrens Hospital Los Angeles is a member of the U.S. Department of Defenses Neurofibromatosis Clinical Trials Consortium (NFCTC). The consortium runs multi-center clinical trials that provide treatment options for a variety of medical complications associated with NF1 and NF2.

• #1 Neurofibromatosis Research Program, NFRP Supported Clinical Trials; Congressionally Directed Medical Research Programs

  https://cdmrp.health.mil/nfrp/clinical_trials/nf1

  The goal of this trial is evaluate the efficacy of ploy-ICLC in pediatric NF1 patients with progressive low-grad glioma. […] This Phase II trial will examine the response to binimetinib treatment in children and adults with plexiform neurofibromas, measured by reduction in tumor volume. […] The objectives of this multi-institutional, phase 2 clinical trial are to determine the clinical benefit of the MEK inhibitor, selumetinib, in combination with a mTOR inhibitor, in patients with unresectable malignant peripheral nerve sheath tumors. […] The objective of this phase I trial is to study the safety and optimal dose of an attenuated measles virus administered intratumorally to patients with locally advanced or recurrent MPNST. […] This phase 2, randomized study compares two interventions on cognitive outcomes in children with neurofibromatosis type 1 (NF1).

• #1 Neurofibromatosis Research Program, NFRP Supported Clinical Trials; Congressionally Directed Medical Research Programs

  https://cdmrp.health.mil/nfrp/clinical_trials/nf1

  Neurofibromatosis (NF) refers to a group of three genetically distinct disorders that have a spectrum of clinical manifestations. Treatments for NF currently include surgery, radiation, and chemotherapy, but several clinical trials are underway to identify more treatment options. […] The Congressionally Directed Medical Research Programs’ Neurofibromatosis Research Program (NFRP) is funding several efforts focused on finding better treatments through two main mechanisms, the Clinical Trial Award and the NF Clinical Trials Consortium. […] The goal of this Phase II study is to explore efficacy of N-acetylcysteine (NAC), an antioxidant, on motor behavior and attention deficit in children and adolescents with NF1. […] The objective of this trial is to determine safety, tolerability, pharmacokinetics, and optimal doses of the selumetinib, AZD5153, and durvalumab in combination in patients with refractory sarcomas.

• #1 Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies

  https://www.e-kjgm.org/journal/view.html?uid=375&&vmd=Full

  Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies […] Following the FDA approval of MEK1 inhibitor selumetinib for NF1-associated plexiform neurofibromas, drug development has focused on combination therapies, multi-pathway targeting, AI-driven drug discovery, preclinical models, and orphan drug designation to address a broad spectrum of NF1-associated tumors and conditions. […] Selumetinib became the first Food and Drug Administration (FDA)-approved treatment for PNs in pediatric patients in 2020. […] In 2024, mirdametinib received orphan drug, fast track, and rare pediatric disease designations from both the FDA and European Medicines Agency. […] Despite these advancements, several challenges remain in developing therapeutics for NF1. Current MEK inhibitors show limited efficacy against more aggressive tumors, such as MPNSTs and high-grade gliomas.

• #1 Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies

  https://www.e-kjgm.org/journal/view.html?uid=375&&vmd=Full

  Additionally, PNs is a heterogeneous disease, with patients displaying variable responses to MEK inhibitors, highlighting the need for personalized treatment approaches. […] Exploring combination therapies that target multiple pathways simultaneously could enhance treatment outcomes. […] Furthermore, identifying new therapeutic targets beyond the MEK pathway is crucial for developing more effective treatments for NF1. […] Currently, other MEK inhibitors (trametinib, binimetinib, etc.) and the tyrosine kinase inhibitors (cabozantinib, etc.) that target a broad range of pathways, are being investigated in clinical trials for children and adults with PNs. […] This enhanced understanding of the TME has been instrumental in the development of targeted therapies, including combination approaches, and has propelled the application of personalized medicine for NF1-associated malignancies.

• #1 Gene Therapy – Gilbert Family Foundation : Gilbert Family Foundation

  https://gilbertfamilyfoundation.org/curing-neurofibromatosis/gene-therapy/

  The Gene Therapy Initiative (GTI) aims to develop curative therapies that address the underlying genetic abnormalities in NF1 patients. […] To date, drug development has primarily focused on addressing the molecular abnormalities that arise downstream of the NF1 gene mutation/deletion rather than the gene itself. In its first phase, the Gene Therapy Initiative will explore the feasibility of various gene-targeting therapeutic strategies for NF1 as well as novel or enhanced in vivo gene delivery systems. […] Areas of interest include: Gene replacement, Gene editing, RNA editing, Exon skipping, Mutation suppression, Gene delivery systems.

• #1 Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies

  https://www.e-kjgm.org/journal/view.html?uid=375&&vmd=Full

  Enhanced genotyping and phenotyping methodologies, combined with meticulous research approaches, are anticipated to elucidate the genetic complexity, underlying molecular mechanisms, and heterogeneous phenotypes observed in NF1 patients. […] At this point in time, utilizing induced pluripotent stem (iPS) cells derived from patients with NF1 mutations allows researchers to study the disease in a patient-specific manner. This technology enables the development of personalized therapeutic strategies by providing a detailed understanding of NF1 pathology and testing potential treatments.

• #1 Dynamic Link Display

  https://journals.lww.com/neurotodayonline/fulltext/2025/04030/neurologists_now_have_a_new_treatment_for.3.aspx

  Dr. Brown said that, in their trials, selumetinib looked slightly more effective while mirdametinib was a little less likely to cause side effects. […] She suspects that was because of different dosing regimens, which could be modified as doctors gain more experience with the treatments. […] It remains to be seen how long treatment effects last. […] Dr. Brown said there is reason to hope that the new treatments may prevent malignancies, but that needs more study. […] Dr. Yohay hopes for treatments in the future that address a broader range of NF-related medical problems. I see it as a first step toward treating the whole range of NF symptoms, he said of the newly approved drug.

• #2 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Theres currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. […] Treatment will depend on your symptoms and may include: […] medicine to stop tumours growing […] surgery to remove tumours that are at risk of causing problems […] using a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy).

• #2 Neurofibromatosis Type 1: Optimizing Management with a Multidisciplina | JMDH

  https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH

  Neurofibromatosis Type I (NF1) is a complex genetic condition that affects multiple organ systems and presents a unique set of challenges for clinicians in its management. […] This review underscores the importance of a multidisciplinary approach to NF1, emphasizing how such an approach can significantly improve patient outcomes and overall QOL. […] Central to this approach is the role of the NF expert, who guides a multidisciplinary team (MDT) comprising healthcare professionals from many areas of expertise. […] The MDT collaboratively addresses the multifaceted needs of NF1 patients, ensuring comprehensive and personalized care. […] This review highlights the need for further investigation to optimize the workflow for NF1 patients in an MDT setting, and to improve implementation and efficacy.

• #2 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension. […] Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. […] Annual examinations permit early detection of problems, decreasing morbidity and improving quality of life. […] Annual eye examinations are important in early detection of optic nerve lesions. […] Cutaneous examination performed at each visit should look for new neurofibromas or progression of preexisting lesions. Plexiform neurofibromas may be locally invasive, therefore clinical evaluation should be directed at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment.

• #2 Treatment & Management – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf1/treatment-management

  Early identification of potential learning disabilities related to NF1. A child’s school progress should be carefully monitored and discussed during annual medical evaluations. If a learning disability is suspected, your doctor can help you determine the next steps, including how to talk with your child’s teachers. […] Careful monitoring of caf-au-lait spots in children with no confirmed diagnosis. A child with multiple caf-au-lait spots but no confirmed diagnosis is still at risk of developing NF1-related complications. Because of this, his or her development should be followed with an annual medical evaluation as if the disorder was confirmed to be present. […] Annual eye examinations. Comprehensive eye examinations are an important part of managing NF1. A distinct feature of NF1 called Lisch nodules small bumps on the iris of the eye can help in establishing a diagnosis of NF1. Examining the eye for Lisch nodules requires a specialized tool called a slit lamp and is usually performed by a specialist. Lisch nodules, if present, are not medically significant and do not interfere with vision. However, other complications of NF1, such as optic glioma or problems with bone structure behind the eye (such as the orbit) are more serious and should be checked for by an eye specialist.

• #2 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Patients with NF2 should have similar routine examinations and care. Known growths are often imaged with periodic surveillance scans with treatment reserved for enlarging or symptomatic growths. […] There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy. Although surgery in these areas can cause further injury to nerves and additional neurological problems, it is usually well tolerated. The benefits of surgery should always be weighed against its risks. Likewise, in situations where radiation treatment is an option, the risks and benefits must be carefully considered.

• #2 Breakthrough Treatment Brings Hope to Children with Tumor Disorder | NIH Intramural Research Program

  https://irp.nih.gov/blog/post/2021/08/breakthrough-treatment-brings-hope-to-children-with-tumor-disorder

  For the first time ever, we were able to show that in the majority of patients, not only did the tumor stop growing, but there was actually shrinkage, Dr. Widemann says. […] In preparation to apply for FDA approval, Dr. Widemanns team also utilized data from a natural history study of NF1, which provided a baseline understanding of how plexiform neurofibromas progress without treatment. […] The FDA approved selumetinib as a treatment for children with NF1 and inoperable symptomatic plexiform neurofibromas in April 2020, with approval in Brazil and Europe following in 2021. […] Together, they are moving forward with clinical trials to see if selumetinib is effective in adults with NF1, as well as looking for an effective therapy for patients whose NF1 tumors become aggressively cancerous.

• #2 NF Treatments – Children’s Tumor Foundation

  https://www.ctf.org/nftreatments/

  Thanks to groundbreaking research funded by our generous donors, there are now FDA-approved treatment options for neurofibromatosis and schwannomatosis with even more promising therapies on the horizon. […] On Tuesday, February 11, 2025, SpringWorks Therapeutics, a commercial-stage biopharmaceutical company focused on severe rare diseases and cancer, announced the U.S. Food and Drug Administration (FDA) approval of GOMEKLI (mirdametinib), SpringWorks MEK inhibitor, for the treatment of adult and pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have inoperable plexiform neurofibromas (PN). […] This marks the second FDA approval for the treatment of patients with neurofibromatosis and schwannomatosis, genetic conditions that cause tumors to grow on nerves throughout the body.

• #2 Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies

  https://www.e-kjgm.org/journal/view.html?uid=375&&vmd=Full

  Additionally, PNs is a heterogeneous disease, with patients displaying variable responses to MEK inhibitors, highlighting the need for personalized treatment approaches. […] Exploring combination therapies that target multiple pathways simultaneously could enhance treatment outcomes. […] Furthermore, identifying new therapeutic targets beyond the MEK pathway is crucial for developing more effective treatments for NF1. […] Currently, other MEK inhibitors (trametinib, binimetinib, etc.) and the tyrosine kinase inhibitors (cabozantinib, etc.) that target a broad range of pathways, are being investigated in clinical trials for children and adults with PNs. […] This enhanced understanding of the TME has been instrumental in the development of targeted therapies, including combination approaches, and has propelled the application of personalized medicine for NF1-associated malignancies.

• #2 Targeted genetic and molecular therapies in neurofibromatosis – A review of present therapeutic options and a glimpse into the future – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/targeted-genetic-and-molecular-therapies-in-neurofibromatosis-a-review-of-present-therapeutic-options-and-a-glimpse-into-the-future/

  Regarding plexiform neurofibromas, studies with receptor tyrosine kinase inhibitors showed efficacy and nilotinib was found to have a lesser adverse effect profile than Imatinib. […] The FDA approved the use of selumetinib for pediatric, inoperable plexiform neurofibromas on April 10, 2020. […] The mammalian target of rapamycin C1 inhibitor, sirolimus, showed efficacy in phase II clinical trials and the MEK inhibitor PD0325901 also showed promise. […] The randomized crossover trial of Tipifarnib, which acts by Ras inhibition, was not found to increase time to progression significantly. […] Tranilast, an inhibitor of epithelial-mesenchymal transition signaling, which is a factor involved in downregulation of E-cadherin and extracellular matrix production was noted to have antiproliferative action in preclinical trials.

• #2 Pediatric Neurofibromatosis Tumors – Conditions and Treatments | Children’s National Hospital

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

  Treatment options for neurofibromatosis tumors will vary depending on the location of the tumor. Some potential treatments include: observation, surgery, chemotherapy. […] In children with neurofibromatosis type 1 with an isolated optic nerve tumor, treatment choices at the time of diagnosis include: observation alone, surgery or chemotherapy. Radiotherapy is infrequently used due to concerns over long-term medical complications of such treatment, including the development of secondary tumors. […] In situations where the vision is retained but the tumor is progressing, or where there is extensive intracranial disease, chemotherapy is often extremely effective. The chemotherapy regimen, which has been found to be most successful in children with neurofibromatosis type 1 and visual pathway gliomas, is the combination of carboplatin and vincristine (chemotherapy drugs). […] In those cases when surgery cannot be performed safely, chemotherapy is often beneficial for children with NF1 and low-grade gliomas. The chemotherapy is the same type that is used in children with visual pathway gliomas; the combination of the carboplatin and vincristine is often quite effective.

• #2 Clinical trial evaluates drug for treatment of neurofibromatosis type 1 and atypical neurofibromas | Center for Cancer Research

  https://ccr.cancer.gov/news/article/clinical-trial-evaluates-drug-for-treatment-of-neurofibromatosis-type-1-and-atypical-neurofibromas

  Neurofibromatosis type 1 (NF1) is a genetic disorder that causes tumors to form on nerve tissue. […] There are no effective medical therapies for most types of tumors. […] Andrea Gross, M.D., Assistant Research Physician in the Pediatric Oncology Branch, is leading a study of a drug, abemaciclib, to treat ANFs in children. Abemaciclib works by blocking the action of an abnormal protein that signals the ANF cells to multiply, thus helping to slow the growth of tumor cells. Researchers want to determine the best dose of abemaciclib for NF1 and to see how participants respond to treatment. […] Official Title: A Phase I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas.

• #2 NTAP and CTF | NFTC Initiatives for Neurofibromatosis Research | NTAP

  https://www.n-tap.org/who-we-are/nf1-gene-replacement-initiative

  Gene replacement has the potential to both prevent and treat cutaneous neurofibromas as well as many other NF1 manifestations by restoring NF1 function in tumor-forming cells. […] Clinically, cNFs affect nearly 100% of people with NF1 by adulthood and there are no approved therapies to treat or prevent cNF. […] We have devised new ways to deliver therapeutic levels of the missing NF1 gene to the NF1-related tumors by injection of adeno-associated virus (AAV) vectors. […] We are expanding our work to initiate pre-clinical studies on gene replacement therapy for cNFs that will culminate in a human clinical trial. […] In this six-year initiative, we will deliver proof-of-principle for NF1 gene therapy to treat a specific tumor subtype by demonstrating that genetic or vector-based NF1 gene restoration in tumorigenic cells will rescue or prevent neurofibroma formation.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Neurofibromatosis-Type-1-Treatment.aspx

  Learning difficulties may be addressed by a team of specialists including a speech and language therapist, an educational psychologist and an occupational therapist. […] For those with behavioral problems such as attention deficit hyperactivity disorder (ADHD), approaches such as counselling and psychotherapy can help patients find ways to cope with the condition and medications such as methylphenidate can help improve concentration and attention span. […] Moderate hypertension can usually be brought under control though lifestyle changes such as reducing salt intake, exercising regularly and maintaining a healthy body weight. In cases of very high blood pressure, however, medications such as angiotensin-converting enzyme (ACE) inhibitors may be prescribed. […] While mild scoliosis may correct itself over time, moderate cases may require a brace to correct the spines position and in severe cases, surgery may even be required to realign the vertebrae. […] Various different treatments are available to help reduce epileptic seizures.

• #2 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Physical therapy can be pivotal in symptom management for neurofibromatosis. It helps improve muscle strength, coordination, and flexibility, which are often compromised by tumor growth on nerves. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. This allows for early detection of new symptoms or changes in existing ones and timely intervention. […] Education plays a pivotal role in managing neurofibromatosis. It is essential for patients and their families to have a comprehensive understanding of this complex medical condition, its potential impact on daily life, and the various treatment options available.

• #2 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  There’s no cure for NF1, but treatment can make it easier for a child to live with its symptoms. […] Children with NF1 are cared for by a team that includes specialists in: neurology: for problems with the nerves, brain, and spinal cord; plastic surgery: to treat appearance concerns; oncology: to treat or remove tumors; ophthalmology: for eye problems; orthopedics: for bone problems; endocrinology: for hormone problems; psychiatry and behavioral health: to help with behavior and attention issues. […] Research continues into better treatments for people with NF. Ask if your child might be a candidate for a clinical trial that’s testing a new treatment option.

• #3 New Drug to Help Children with Neurofibromatosis Type 1 | Lurie Children’s

  https://www.luriechildrens.org/en/blog/new-drug-to-help-children-with-neurofibromatosis-type-1/

  Until recently, children with Neurofibromatosis type 1 (NF1) had few options to relieve the pain and health problems caused by the tumors that characterize this condition. A new drug called selumetinib (KOSELUGOTM) is the first approved treatment for NF1 tumors. […] In April 2020, a new drug, selumetinib (KOSELUGOTM), was approved by the Food and Drug Administration (FDA) for use in children two years of age and older. It was shown to reduce plexiform tumor size and growth in a majority of children with NF1. It works by blocking a substance in human cells that leads to the kind of unchecked cell growth that causes tumors. At Lurie Childrens, we may prescribe selumetinib for children with plexiforms that are actively causing health problems, such as making it hard to swallow or breathe. […] Selumetinib does not work well for all patients, but it represents important progress in the treatment of NF1.

• #3 Dynamic Link Display

  https://journals.lww.com/neurotodayonline/fulltext/2025/04030/neurologists_now_have_a_new_treatment_for.3.aspx

  A newly approved drug for neurofibromatosis type 1 appears promising, experts said, but they cautioned that physicians should monitor for possible adverse events and long-term use. […] The US Food and Drug Administration (FDA) in February approved mirdametinib (Gomekli) for the treatment of some neurofibromas in both adults and children with neurofibromatosis type 1 (NF1). It was approved for patients ages 2 and older with symptomatic plexiform neurofibromas (PN) that cannot be safely and completely removed. […] Mirdametinib is the first drug approved for adults with this kind of tumor. In the ReNeu phase 2 clinical trial, it reduced the volume of PN tumors and improved symptoms. […] Selumetinib (Koselugo) was approved in 2020 for use in children ages 2 to 18. […] Both drugs are inhibitors of MAPK kinase (MEK) and are believed to act as a brake on unregulated cell growth that feeds the complex tumors that surround nerves in NF1.

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