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If you are an adult with NF1, and would like to participate in a study being conducted by researchers at the National Institutes of Health (NIH) and Johns Hopkins University, click here.
Auditory Brainstem Implant Patients Needed For Research Study
A clinical research study of patients who have an auditory brainstem implant (ABI) is being conducted jointly by researchers at the Massachusetts Eye and Ear Infirmary (MEEI), Massachusetts Institute of Technology (MIT), and Harvard Medical School. We will use specialized hearing testing to better understand how your brain responds to stimulation from your ABI.
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| Natural History Study of Plexiform Neurofibromas |
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This is a research study of the rate of growth of plexiform neurofibromas. The growth patterns of plexiform neurofibromas appear to be unpredictable, with the tumors often growing for periods of time and then remaining stable. The factors that influence neurofibroma growth are largely unknown.
The goals of this study is to closely monitor the growth of plexiform neurofibromas for a period of at least three years using magnetic resonance imaging (MRI). We will be analyzing the MRI data in a special way that allows us to precisely measure the volume of the neurofibroma. By repeating the assessment every six to 24 months, we hope to document the rate of change in size of the plexiform neurofibroma and to demonstrate that volume analysis of MRI data provides a reliable means of measuring neurofibroma growth. Finally, the study will bring together clinical and research resources that can later be used to test potential treatments of neurofibromas.
This is an international study funded by the U.S. Department of Defense NF Research Program. Eighteen medical centers worldwide are recruiting patients for this study, including Texas Childrenâs Hospital in Houston. For more information about the study and how to get involved contact:
Tara Flynn
Partners Center for Human Genetics
H.I.M. Building, Suite #642
77 Avenue Louis Pasteur
Boston, MA 02115
Phone: 617-525-5750
Fax: 617-525-5757
www.nfstudies.org
Listed on this page are several researchers interested in obtaining tumor tissue from NF patients for laboratory studies. For these studies, the surgery must be performed for your medical care and there may be excess tissue available that can be donated for research studies. Please contact the researchers directly if you are interested. It is very important to arrange for this type of study well in advance of the surgery and to be aware that not all hospitals are able to comply with your request to send tissue for research. |
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| NF1 Neurofibroma and Malignant Tumor Tissue Needed |
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Dr. Peggy Wallace and Dr. David Muir at the University of Florida have federal funding to continue their research of NF1 tumors. They are studying benign tumors (plexiform neurofibromas) and malignant tumors (often called neurofibrosarcoma, or MPNST). The goal of this work is to understand the changes that cause growth of these tumors to help develop better treatments. If you or a family member or friend is arranging surgery to remove any tumors for clinical reasons (preferably at least the size of an average marble) and would like to contribute extra surgical tissue to this research, please contact Dr. Wallace. She will discuss the research with you and help make arrangements to recover any extra tumor material (not needed by your physicians) if you wish to participate. It helps to make arrangements ahead of the surgery you schedule, as we need the tissue treated in a special way. A small amount of blood (one to three teaspoons) will also be needed, which can be obtained at the same time or another date. Dr. Wallace and Dr. Muir thank you very much for your help!
Margaret (Peggy) Wallace, Ph.D., Associate Professor, Molecular Genetics, University of Florida Box 100266, 1600 SW Archer Road, Gainesville, FL 32610-0266
TEL.: 352-392-3055
FAX: 352-392-3051 peggyw@cmg.health.ufl.edu |
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| Neurofibromas Needed |
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Dr. Nancy Ratner at Cincinnati Childrenâs Hospital Medical Center requires neurofibromas from NF1 patients for an ongoing study of tumor growth factors, growth factor receptors and signaling pathways in neurofibroma cells. To be enrolled in this study, tumors must be removed for medical reasons. If you are interested in your tumor tissue being used for this study, AFTER you are scheduled for surgery, please have your physician or his/her nurse contact Dr. Ratner at least 24 hours prior to removal of tumors for instructions. Please do not contact Dr. Ratner directly; the contact must come from the doctor so that tumor is handled correctly. The study requires sterile tumor tissue covered by and shipped in tissue culture medium, on wet ice. Plexiform or cutaneous neurofibromas can be used. Some patient information (age, sex, criteria used to make the diagnosis of NF1) is required. Dr. Ratner will pay shipping costs but cannot pay the cost of surgery.
For more information: Tel: 513-636-9469 Fax: 513-636-3549 nancy.ratner@cchmc.org |
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| We Need Your Tumor! |
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1. If you have NF and you are going to have surgery and would like to contribute to the research effort, please let someone know. The majority of that tumor that you donât want anymore will be incinerated unless a research lab knows itâs available. If your own medical center is not actively researching NF, please call my laboratory, and we will either bank the material, use it in our own work or donate to other collaborating labs.
Please contact Mia MacCollin, M.D. at Massachusetts General Hospital Phone: 617-726-5725 Fax: 617-726-5736 maccollin@helix.mgh.harvard.edu
When you call, please have available your surgeonâs name and phone number and the date of surgery.
2. As part of our work on the molecular genetic basis of multiple meningiomas, we are actively recruiting patients interested in participating in research. Patients must have had a cranial MRI scan, which excludes vestibular schwannoma and/or an affected relative. Study will involve record review, blood samples and retrieval of tumor material. For more information, please contact Mia MacCollin, M.D (see above). This work is approved by the Institutional Review Board of MGH. The NF community thanks you! |
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| PEG-Intron Clinical Trial for Plexiform Neurofibromas |
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The Neurofibromatosis Program at Childrenâs National Medical Center, Washington, DC, has started a clinical trial for the treatment of plexiform neurofibromas with PEG-Intron, a form of interferon. Individuals with plexiform neurofibromas younger than 21 years are eligible.
Childrenâs National Medical Center, Washington, DC Tena Rosser, M.D. or Kathleen Cooney, N.P. at 202-884-2120 e-mail: trosser@cnmc.org |
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| Phase II Study of Vinblastine and Methotrexate for NF1 Progressive Plexiform Tumors |
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This three-year study is to determine the effect of chronic vinblastine and methotrexate on time to disease progression in children or young adults up to 25 years of age with NF1who have progressive plexiform neurofibroma (PN). Criteria for participation in the study includes diagnosis of progressive, debilitating, severely disfiguring or life-threatening plexiform neurofibroma that is surgically unresectable (or surgery refused by patient) and for which there is no other standard medical management. Tumor must be biopsied if any clinical observation or scan suggests possible malignant transformation.
Childrenâs Hospital of Philadelphia, Philadelphia, PA Jean Bello Belasco, M.D. at 215-590-2848 |
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| NF2 Natural History Consortium Study |
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The purpose of the study is to follow the natural history of all tumors related to NF2. Information from yearly MRI scans of the brain and spine, hearing tests, eye exams, neurological check-ups and physical functioning questionnaires will be collected for three years. To participate in the study, the NF2 diagnosis has to have been made on or after January 1, 1993. You must have at least one untreated acoustic neuroma, meningioma or spinal schwannoma that will remain untreated for the next 12 months.
House Ear Institute, Los Angeles, CA
William H. Slattery III, M.D.; Shauna Duke at 213-273-8008
e-mail: sduke@hei.org |
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| Midkine as a Diagnostic Marker for Neurofibromatosis |
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We are conducting a research study that is designed to explore a diagnostic blood test for NF1 and NF2. The protein midkine is often found in the serum of individuals with neurofibromatosis at high levels. If this result can be confirmed in a large number of individuals, midkine could become an independent diagnostic marker for NF1 and for NF2. In order to test this idea, we are recruiting individuals diagnosed with NF1 or NF2 to participate in our study.
If you have NF1 or NF2 and are interested in participating, or have any questions, please contact the investigator in charge of this study (contact information below). After this initial contact, participants will need to visit their regular physician to donate 10 ml of blood (about two teaspoons) and answer a brief questionnaire regarding your symptoms.
If you are interested in participating, or have any questions, please contact the investigator in charge of this study.
George A. Mashour, M.D., Ph.D.
Andreas Kurtz, Ph.D.
Phone: 617-726-4821 Fax: 617-726 4821
e-mail: nf1study@yahoo.com
Molecular Neurosurgery Laboratory
Massachusetts General Hospital, Harvard Medical School
Boston, MA |
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| Mitochondrial Polymorphism and Number of Neurofibromas in NF1 |
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We are conducting a research study that is designed to explore the reason why some individuals with NF1 develop a large number of neurofibromas, whereas others may develop a smaller number. We believe that there may be genes aside from the NF gene itself that help to determine the overall number of neurofibromas a person with NF will develop. In order to test this idea, we are recruiting individuals with NF to participate in our study. Specifically, we are looking for individuals who fit in any of the following categories:
Age Number of Neurofibromas
18-20 years old - fewer than five or more than 30
20-30 years old - fewer than 10 or more than 100
30-40 years old - fewer than 20 or more than 200
older than 40 years - fewer than 50 or more than 500
Participation in the study will have a physical examination and donate 20 ml (about four teaspoons) of blood. If you fit into any of the above categories and are interested in participating, or have any questions, please contact the investigator in charge of this study.
Andreas Kurtz, Ph.D. 617-726-4821 kurtza@helix.mgh.harvard.edu MGH, Boston, MA |
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| Attention Families Of Children With NF1 (ages six to 14) |
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We are currently looking for children (ages six to 14) with Neurofibromatosis Type 1 to participate in a research study to learn more about what causes difficulty with reading. We are also interested in having unaffected siblings of children with Neurofibromatosis Type 1 participate in the study, although siblingâs participation is not a requirement to be in the study.
WHAT: Two days of paper and pencil tasks, and some children will receive magnetic resonance imaging (MRI) scans of the brain
WHERE: Kennedy Krieger Institute - 707 North Broadway, Baltimore, MD
BENEFITS: Each child receives $25 for study participation and $10 for lunch, Free IQ and school testing with summary, and Some children will receive a free MRI.
CONTACT: Pam Yerby
443-923-9250
yerby@kennedykrieger.org
Laurie E. Cutting, Ph.D.
Principal Investigator
Kennedy Krieger Institute, Johns Hopkins School of Medicine |
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| NF1 Cognitive and Behavioral |
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The purpose of the study conducted by the Yale Child Study Center is to determine how strengths and weaknesses in cognitive-behavioral development change as those with NF1 get older.
Requirements:
Ages four years to 15 years. Clinical diagnosis and/or DNA diagnosis of NF1.
Evaluation includes:
*Stanford-Binet (4th edition) assessment of intellectual ability, Vineland Adaptive Behavior Scale (parent interview of behavior), Clinical Evaluation of Language (possible).
Additional Information:
There is NO charge for the evaluation. Testing takes about one and a half hours. No laboratory tests will be performed as part of the study. Reports for parents/teachers/caregivers take about two months and are sent to parents. Once enrolled, children and adolescents will be tested every two years.
Principal Investigator:
Gene Fisch, Ph.D. (psychologist), Yale Child Study Center, 203-785-2843, gfisch@nshs.edu Yale University School of Medicine New Haven, CT
Information about the following two research calls was provided by National NF Foundation. |
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| Seeking Doctors with NF1 Cases With Large Gene Deletions |
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Researchers at the University of Milan are interested in NF1 patients with a complex phenotype who are thought to bear large deletions involving NF1 gene. Their aim is to define by FISH analysis on chromosome spreads the sequences involved in the deletions. In particular, they are studying NF1 patients with dysmorphisms, mental retardation of any degree and other associated anomalies involving different systems. If you have any cases of this nature, please contact:
Lidia Larizza
Department of Biology and Genetics, Medical Faculty, University of Milan
Via Viotti 3/5 20133
Milan ITALY
phone ++39-02-23693226
fax: ++39-02-70602472
e-mail: larizza@imiucca.csi |
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| Call For Schwannomatosis Samples |
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Array-CGH (comparative genomic hybridization) is suitable for comprehensive and high-resolution profiling of DNA-copy-number. It allows simultaneous detection of heterozygous/homozygous deletions and/or amplifications occurring in constitutional or tumor DNA (Bruder et al., Hum Molec Genet, 2001. 10:271-282). A high-resolution array fully covering the entire 22q has recently been constructed and successfully applied in the analysis of tumor-derived and constitutional DNA.
The aim of this project is to characterize the frequency and location of deletions, which occur outside the NF2 locus on chromosome 22. This research task aims to characterize additional 22q-located gene(s), which may contribute to the development of schwannomatosis and the severe phenotype of neurofibromatosis type 2.
We would like to obtain blood-derived DNA or a blood sample from patients affected with schwannomatosis; i.e., patients with two or more pathologically verified schwannomas, plus lack of radiographic evidence of vestibular nerve tumor at age >18 years. These can be familial or sporadic cases. We need >25 microgram of high-molecular-weight DNA from peripheral blood. Alternatively, we would like to obtain 30 ml of peripheral blood (in EDTA tubes) transported to us via overnight courier service. Basic clinical details of the studied patients are also necessary.
Our project receives support from the U.S. Army Neurofibromatosis Research Program, the Swedish Cancer Society, the Uppsala University and the Swedish Research Council. The use of material derived from human subjects has been approved by the Uppsala University Research Ethics Committee (Institutional Review Board).
Please contact: Jan Dumanski, Dept. of Genetics and Pathology, Rudbeck Laboratory, 3rd floor Uppsala University Hospital
751 85 Uppsala, Sweden
phone: +46-18-611 1096; fax: +46-18-55 89 31
email: jan.dumanski@genpat.uu.se home page: http://puffer.genpat.uu.se/ |
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| TEXAS NF FOUNDATION RESEARCH UPDATE |
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Texas NF Foundation has contributed more than $550,000 directly to research efforts to find a treatment for NF with the help of the Denise Terrill Charity Classics.
The Foundation has been funding research conducted by Dr. Hiroshi Maruta at the Ludwig Institute for Cancer Research in Melbourne, Australia. He has discovered that the NF pathways in the body are shared by 70% of all cancers, and have developed a substance (FK228) that has been able to block NF tumor growth in genetically engineered mice.
This research is very exciting. Last year, we were able to contribute $95,000 to Dr. Marutaâs research efforts. This year, our goal is to raise $125,000 for Dr. Maruta.
Dr. Marutaâs research has just been published in the April issue of the Cancer, Biology and Therapy journal. For more information on the article go to: http://www.LandesBioscience.com
ABSTRACT
Cancer Biology & Therapy
Vol: 4 Issue: 4 April 2005 pgs. 379-381
Title: Signal Therapy of NF1-deficient Tumor Xenograft in Mice by the Anti-PAK1 Drug FK228
Author(s):
Yumiko Hirokawa, Hidenori Nakajima, C. Oliver Hanemann, Andreas Kurtz, Silke Frahm, Victor Mautner, Hiroshi Maruta
PAK1, a Rac/CDC42-dependent Ser/Thr kinase, is required for the malignant growth of RAS transformants, as well as both NF1-deficient and NF2-deficient cancer cells. FK228, a histone deacetylase (HDAC) inhibitor, suppresses the growth of more than 70% of human cancers in vivo, including RAS transformants, breast cancers and prostate cancers by activating a set of genes, including the tumor suppressors gelsolin and p21/WAF1, that block up-stream and down-stream of PAK1, respectively. Here we demonstrate that (i) the anti-PAK1 drug FK228 (0.1 nM) completely blocks the growth of both NF1-deficient and NF2-deficent cancer cells in vitro, and that (ii) FK228 (2.5 mg/kg, i.p., twice a week) causes the complete regression of an NF1-deficient human malignant peripheral nerve sheath tumor (MPNST) xenograft in nude mice. This is the very first case where a chemical drug in clinical trials for cancers has ever worked so effectively on neurofibromatosis (experimental neurofibromas) in vivo. |
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