View clinical trials related to Neurofibromatosis Type 1.
Filter by:The study is a multicenter four-year outcome study of the natural history of tibial dysplasia in patients with NF1 and selected patients without NF1. We will obtain information on the natural history, burden, functional and health status, health-related quality of life, and surgical interventions/outcomes of tibial dysplasia. The project will also establish a Core Facility (NOCF) for tissue samples for future studies.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of 1/2190 to 1/6711. Attention deficit hyperactivity disorder (ADHD) has been reported to be common in NF1. We, the researchers at Hospices Civils de Lyon, designed a randomized, double blind, placebo controlled, crossover trial with a total follow-up duration of 9 weeks to evaluate the effect of methylphenidate (MPH) on the improvement on the simplified parents Conners' Rating Scale. In a parallel exploratory study we will compare the nature of attention deficit disorders in NF1 children to 30 ADHD NF1-free controls. Children aged 7 to 12 years are eligible when their intelligence quotient (IQ) is between 80 and 120. Fifty subjects (25 for each period) were required for testing the primary study hypothesis.
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others. The study will also examine medical problems in NF1 that are rarely seen and are not well understood. Male and female patients with NF1 who have gone through puberty may be eligible for this study, as well as patients of any age who have unique or under-recognized disease features. Affected and unaffected family members, including parents, siblings, and more distant relatives, may also be enrolled. Candidates are screened with a discussion of medical history or review of medical records, or both. Participants undergo the following procedures: Patients with NF1 - Physical examination and family history - Photographs of the iris of each eye - Photographs of the back, abdomen and thigh to count skin tumors - Photographs of the face and body (with underwear on) to help track growth and appearance - Magnetic resonance imaging (MRI) of the spine (This test uses a magnetic field and radio waves to look for tumors and curvature of the spine. The patient lies still in the scanner, a narrow cylindrical device, wearing earplugs to muffle loud knocking sounds that occur during the scan. A contrast material called gadolinium is injected into a vein through a catheter to enhance the images.) - Blood draw for genetic studies - Possibly a skin biopsy (with the use of numbing medicine, removal of a small sample of skin tissue) to grow cells in the laboratory Patients with NF1 who have unique or under-recognized disease features - Physical examination and family history - Blood draw for genetic studies - Possibly a skin biopsy - Possibly additional tests, such as blood work, x-rays, photographs, MRIs, ultrasounds, or other tests Unaffected family members - Blood draw for genetic studies - Brief skin and eye examinations - Possibly a skin biopsy for cell culture Families are asked to give permission for researchers to recontact them for follow-up information, additional blood samples, or follow-up visit. ...
RATIONALE: Chemoprevention therapy is the use of certain drugs to try to prevent the development or recurrence of cancer. Pirfenidone may slow the growth or prevent further development of plexiform neurofibromas. PURPOSE: Phase I trial to study the effectiveness of pirfenidone in treating young patients who have neurofibromatosis type 1 and plexiform neurofibroma.
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining methotrexate with vinblastine may be effective treatment for neurofibromatosis type 1 associated with progressive plexiform neurofibromas. PURPOSE: Phase II trial to study the effectiveness of combination chemotherapy in treating patients who have neurofibromatosis type 1 associated with progressive plexiform neurofibromas.
Patients who are being considered for participation in a NCI Pediatric Oncology Branch research study will be screened for eligibility under this protocol. For every NCI research study, patients must meet defined medical criteria in order to ensure the integrity of the research study and to maximize patient safety. Tests and procedures required for determining eligibility depend on the specific study for which the patient is being considered. Some of the more common tests and procedures are: - History and physical examination - Blood and urine samples for routine laboratory tests and possibly research studies - Quality of life assessment questionnaire - Magnetic resonance imaging (MRI) scan uses a magnetic field and radio waves to produce pictures of body structures, including tumors - Computerized tomography (CT) scan uses radiation to produce multiple detailed pictures of body structures - X-rays uses radiation to provide a single picture of a body part - Nuclear medicine scans uses a chemical tagged with a radioactive substance to detect tumors, measure kidney or heart function, or monitor the flow of cerebrospinal fluid (fluid that bathes the brain and spinal cord) - Electrocardiogram (EKG) uses electrodes placed on the skin to evaluates heart rate and rhythm by measuring electrical impulses from the heart - Echocardiogram uses high-frequency sound waves to evaluate heart structure and function - Lumbar puncture tests for cancer cells and other substances in cerebrospinal fluid. Involves placing a needle into the lower back between the bones of the spine and withdrawing a fluid sample from the fluid-containing space below the spinal cord - Ommaya reservoir surgically implanted catheter inserted into the fluid-filled ventricles of the brain, used to withdraw spinal fluid samples and to give medication - Eye examination vision test and eye examination - Biopsies removal of a small piece of tissue, by needle or by surgery, for examination under the microscope. An area of skin over the biopsy site is numbed with an anesthetic. For a needle biopsy, a needle is inserted into the tumor, tissue or bone marrow to pull out a small sample. A surgical biopsy may be done in the operating room, clinic, or hospital room, depending on the biopsy location. The tissue or tumor is removed by cutting a small piece of it with a sharp knife or scalpel and the area will be closed with sutures or staples.