View clinical trials related to Neurofibromatosis 1.
Filter by:As part of a post-approval commitment, the Korean health authority requests a study to characterize safety and effectiveness in patients treated with Koselugo (Selumetinib), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, by physicians in routine clinical practice settings. This study is designed to assess the known safety profile or identify previously unsuspected adverse reactions and evaluate the effectiveness of Koselugo under conditions of routine daily medical practice in Korea. This study will provide information on the Korean patient population that is treated with the study drug.
This study will evaluate the tolerability and effectiveness of four FDA-approved treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: a 1064nm laser, a 755nm laser, and Kybella and Polidocanol injections. Each patient will have a treatment and a control site. This study is designed with the goal of improved efficacy/tumor reduction via multiple treatment visits. If there is minimal to no clinical improvement in tumor size with one treatment after three treatment visits, the subject will be given the option of crossover treatment with the most effective of the four treatments. Three treatment visits with the crossover treatment will then take place.
The goal of this fully decentralized, randomized controlled trial is to compare the efficacy of two educational interventions for individuals with Neurofibromatosis 1 (NF1). The primary objective of the study is to determine which intervention leads to higher rates of evidenced-based health screenings for NF1 patients in primary care settings. Adults with NF1 and parents/guardians of children with NF1 from across the U.S. who do not go to a specialized NF clinic and who have an upcoming annual wellness visits scheduled with a primary care provider (PCP) are eligible to enroll in the study.
Background: Neurofibromatosis type 1 (NF1) is a genetic disease that can cause many symptoms. About half of people with NF1 will develop benign (noncancerous) tumors along nerves in the skin, brain, and other parts of the body. Sometimes, though, these tumors can become cancerous. Researchers do not yet know how to predict which tumors will become cancerous. Objective: To test a new method for predicting which benign NF1 tumors will become cancerous. Eligibility: People aged 3 years and older with a clinical or genetic diagnosis of NF1. Design: - Participants will be screened with a review of their medical history. All participants will have a baseline visit. They will have bood tests and imaging scans. They will have a physical exam. They will answer questions about their family history. Participants aged 8 years and older will take tests of their thinking skills and their emotional health. - Some participants may be asked to undergo more tests. These may include another type of imaging scan and a biopsy: A small sample of tissue may be removed from the tumor. - Participants will be divided into two groups: those believed to be at low risk and those believed to be at high risk of developing cancer. - Participants in the high-risk group will be asked to return for their next visit in 1 month to 3 years. - Participants in the low-risk group will be asked to return for their next visit in 6 months to 5 years. - Participants may also have follow-up visits by phone throughout the study. They will be in the study for 10 years....
Plexiform neurofibromas (PN) are known to cause significant morbidity in children with NF1. The recent FDA approval for selumetinib in children 2 years and older with inoperable symptomatic PN was based on the finding that selumetinib shrinks the majority of PN in children with NF1 and results in clinically meaningful benefit such as improvement in pain or range of motion. However, many morbidities, such as blindness or nerve damage, cannot be fully reversed with PN shrinkage. Therefore, there remains a critical need in this patient population to determine if young participants with PN in high-risk locations may benefit from early medical intervention prior to the development of clinical problems. This study will determine whether participants with asymptomatic PN in high-risk locations can potentially benefit from early treatment with selumetinib.
This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML). Newly diagnosed lower-risk JMML patients will receive trametinib and azacitidine. High-risk JMML patients will receive trametinib, azacitidine, fludarabine, and cytarabine.
This study is a Phase I clinical trial to evaluate the tolerability and pharmacokinetics of TQ-B3234 capsules in Chinese subjects associated with neurofibromatosis type I (neurofibroma and peripheral malignant neurilemmoma). Two study phases were designed, including (1) dose escalation and (2) cohort expansion. The purpose of this study was to evaluate the tolerance, pharmacokinetic characteristics, efficacy and safety of TQ-B3234 capsule, and to explore the therapeutic biomarkers related to this product.
Frequency of constitutional mismatch-repair deficiency among suspected neurofibromatosis type 1 patients without a NF1 mutation Constitutional mismatch repair deficiency (CMMRD) is a rare inherited condition. Individuals with CMMRD have an extraordinarily high risk to develop a malignant tumor in childhood or adolescence. Nearly all known CMMRD patients developed a malignancy within the first three decades of life and most often in (early) childhood. Since early cancer detection improves the chances to survive, these patients should be included from early childhood on in intensive cancer surveillance protocols. Typically patients are diagnosed with CMMRD only when they develop their first malignant tumor. Many children with CMMRD show already before the onset of the first malignant tumor clinical signs that may serve as a signpost of this severe condition. Often CMMRD patient show skin patches of milk coffee-like color, termed café au lait maculae (CALM), which are very typical for a different inherited condition named neurofibromatosis type 1 (NF1). NF1, which is much more frequent than CMMRD, also leads to tumor development. But NF1 tumors are usually benign and NF1 children need different, less rigorous, tumor surveillance programs than CMMRD patients. A child with >5 CALM is suspected of having NF1. However, if this diagnosis cannot be confirmed by identification of the causative genetic alteration (NF1-mutation), CMMRD is one possible, but presumably rare, alternative (= differential) diagnosis. Therefore, human geneticists and pediatricians discuss internationally, whether these children should be tested for CMMRD. Diagnosing CMMRD in this situation would allow offering appropriate cancer surveillance protocols to these patients before they develop their first malignant tumor. However, CMMRD testing in this situation may also cause difficulties. Genetic testing may for instance render an ambiguous result, which can neither confirm nor rule out CMMRD. Such a result would create great uncertainty of the appropriate management of the patient. It would be not clear whether intensive cancer surveillance, that may be very stressful for the patient and the family, should be applied or not. Such potential disadvantages of (with respect to tumor development) predictive CMMRD testing argue more against testing when the chances to identify CMMRD in a patient and consequently achieving a benefit for the patient are low. But currently the frequency of CMMRD patients among suspected NF1 patients without a causative NF1 mutation is unknown. It is the aim of this project to get a reliable estimation on the frequency of the differential diagnosis CMMRD in children with NF1 signs in whom the diagnosis NF1 cannot be confirmed. This information is needed to evaluate and weight the benefits and potential disadvantage of CMMRD testing in these children. To know this frequency is also important for appropriate genetic counseling of at risk children and their parents.
The present project will therefore focus upon those processes related to visual attention and perceptual abilities and on their potential to explain reading behavior and reading problems in NF1. The main objective of this study is to clarify the specificity and heterogeneity of reading profiles and the causes of its disturbance in NF1. In particular, this project allow the investigators to study more precisely the relations between perceptual, oculomotor and visuo-attentional skills in NF1 children and reading abilities. In addition, a new oculomotor/perceptual reading aid for NF1 children will be evaluated. The investigators believe that the early intervention for perceptual, visuo-attentional or oculomotor problems may promote academic skill development.
This is a small study of the oral MEK1/2 inhibitor, selumetinib, to evaluate the potential utility of selumetinib in individuals ≥ 18 years old with Neurofibromatosis 1 (NF1) and cutaneous neurofibromas (cNFs). The study aims to determine whether selumetinib will result in shrinkage of existing cutaneous neurofibromas and if it prevents or delays the development of new cutaneous neurofibromas.