View clinical trials related to Neurofibromatosis 1.
Filter by:The objective of this study is to determine if children and young adults with Neurofibromatosis Type 1 (NF1) and either Low Grade Gliomas (LGGs) or Plexiform Neurofibromas (PNs) have a specific frameshift peptide protein profile and whether a disease specific vaccine created to address these frameshift mutations and variants can be developed. Three study populations will be analyzed; patients with NF1 and active LGGs, NF1 and active PNs, and NF1 and no evidence of active LGGs or PNs. Participation involves a onetime blood draw.
The objective of this study is to study the function of the pigment epithelium in patients with neurofibromatosis type 1 using electro-oculogram to confirm abnormally high values reported in previous studies, but also to correlate this hyperactivity of the pigment epithelium with the presence and size of choroidal hyperreflective areas observed in infra-red imaging of the fundus. The hypothesis of the study is that the function of the pigment epithelium measured by the electro-oculogram correlates with the surface of choroidal hyperreflective areas. Finally, the potential consequences of a supra-normal function of the pigment epithelium on the global retinal function are not known. A full-field electroretinogram will evaluate the global neurosensory retinal function.
It is known that children with NF1 can have weak muscles and suffer from tiredness. It is also known that in similar conditions affecting children's muscles, standing on a vibration device for a few minutes each day can strengthen muscles and improve their ability to perform day-to-day activities. The investigators believe this vibrating platform can be used to strengthen the muscles of children with NF1 also, beyond standard exercises, and therefore allow them to perform day-to-day activities better, do more activity and feel less tired. If families are keen to take part in this study, the investigators will first need to check they are suitable for the trial. This will be based on the participant's age (6-16 years), their other medical problems that would affect use of the vibration device or tests to assess how effective it is, and their level of muscle weakness. Once families have agreed to take part, participants will be randomised either to receive a muscle-strengthening exercise session delivered by a physiotherapist that children with weak muscles should continue to perform daily for the next 6 months; or to receive a vibration device to take home and use for a few minutes 5 days a week for 6 months as well as the exercises. All participants will be invited to attend for a variety of activities and tests, just before starting the trial and 6 months later at the end of the trial to see if there is any benefit from the vibration device. The investigators will repeat these tests again 3 months later, to see if any benefits observed remain, even after the device is removed. They will involve jumping, hopping and balancing on a board, gripping a machine as hard and as long as possible, being fitted with a device that measures activity for 7 days, walking as far as possible for 6 minutes, scanning muscles using MRI, completing a tiredness and general well-being questionnaires, and parents completing a questionnaire of the participant's attention and intellect. The jumping will also be performed 3 months into the study, to see if there is any early improvement in this key test. All participants will be given full details of what the trial involves before taking part. As with any other trial, participants and their families are free to stop taking part at any time. Although the investigators do not anticipate any safety issues, if any do arise, the families will be asked to contact the trial team.
This study aims to investigate synaptic physiology and behavioral inhibition in patients with NF1 and ASD and to answer whether inhibitory deficits at these levels are modulated by lovastatin. Structure: (1) Visit 1: Baseline assessment- participant's characterization, baseline outcome measures and additional evaluations, (2) 3 consecutive days of physiologically probing drug/placebo intake, (3) Visit 2: Outcome measures and additional evaluations in the day after the last drug/placebo intake, (4) Washout period of 4 to 6 weeks, (5) 3 consecutive days of drug/placebo intake, (6) Visit 3: Outcome measures and additional evaluations in the day after the last placebo/drug intake.
Patients with clinically confirmed neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) or a known neurofibromatosis (NF) mutation aged 5 years and above will be eligible to participate and will be recruited from the neurofibromatosis clinic. Given the need for identifying measures that can reliably and sensitively measure focal muscle weakness and allow for measuring muscle strength as a functional outcome in therapeutic clinical trials in NF, this pilot study will assess the reliability of measuring muscle strength in NF1 and NF2 using a hand-held dynamometer.
This study will evaluate bioavailability and food effect of selumetinib (AZD6244) in healthy male participants. A total of 24 healthy male participants will be included to ensure at least 20 evaluable participants. The study is divided in 2 study parts; the same participants will participate in both parts of the study. Part 1 of the study is to investigate the pharmacokinetics (PK) of the selumetinib granule compared to the PK of selumetinib capsule, when administered with water under the fasted conditions. Part 2 of the study is to investigate the PK of selumetinib granule and capsule under fed conditions. Participants will also receive a single 500 mg dose of acetaminophen at the same time as selumetinib administration.
Neurofibromatosis 2 (NF2) is a rare inherited condition. Those with NF2 usually present with tumours (schwannomas) in their inner ear, or vestibular organ, with common symptoms including problems with hearing, balance, dizziness and vision. This study aims to evaluate the reliability (stability) of a range of functional standardised outcome measures in adults with NF2.
Background: Neurofibromatosis type 1 (NF1) is a genetic disorder. It has a broad variety of effects on the body. Up to half of people with NF1 get plexiform neurofibromas (PNs). These are benign tumors. But they can have serious effects like pain and disfigurement. To treat PNs, a person may have to take medicine every day for a long period of time. Researchers think that it will be important for people to take the medicine regularly for it to work. They want to study how well people with NF1 follow their treatment plan for PNs. Objective: To study how often people with neurofibromatosis type 1 take medicine that has been prescribed to them for treating plexiform neurofibromas. Eligibility: People ages 3-59 already enrolled in an NF1 clinical trial Design: Participants will need access to the internet to do the study activities. Parents or caregivers will do some study activities for child participants. Participants will complete 5 questionnaires. They will take about 20 minutes total. The topics will be: Demographic data Recent life events How much pain interferes with daily life Ability to focus and pay attention to tasks Emotional distress or depression Participants will mark down every time they take a dose of the medicine in their clinical trial. They will use a form the researchers give them. The pill bottles they get in their trial will have a chip in the cap that will record when it is opened. Participants will keep a daily diary of their medicine. Their pills will be counted at clinical trial visits. Participants may have more short questionnaires. They may have interviews by phone or video.
To determine the clinical benefit rate of selumetinib in combination with sirolimus in patients with unresectable or metastatic neurofibromatosis type 1 (NF1) associated or sporadic MPNST.
Phase I and II study of the MEK inhibitor Selumetinib given twice daily on 5 out of 7 days in children with NF1 and inoperable plexiform neurofibromas or progressive/relapsed optic pathway gliomas. This study will test the early and late toxicities of selumetinib when it is given in this intermittent schedule (in 5 out of 7 days) and will also test the effectiveness of the drug in reducing the size of plexiform neurofibromas and optic pathway gliomas in children with NF1. It will also test the effectiveness of the drug in improving the participants function in day to day life.