RESEARCH
RESEARCH DEVELOPMENTS
Three types of research are critical to the mission of the FD Foundation: research that investigates the efficacy of treatment modalities currently in use, investigations that pursue a cure, and investigations to advance the quality of life for people currently affected.
Modalities of treatment:
Research that investigates the efficacy of treatment modalities currently in use has two aspects. The first is to establish the state of the field. This matter is at the center of the upcoming international scientific meeting to be held at NIH in October of 2010, which will provide a snapshot of what we know and the experts believe works. It requires an ongoing effort to track publications to learn what clinical research is being undertaken by researchers in other regions of the world. The second prong involves developing the means to track treatment modalities and their outcomes, such as the efficacy of particular cranio-facial surgical interventions, orthopedic devices or pain medications.
Curative Investigations:
Without a doubt, basic scientific understanding of FD, MAs and Cherubism needs to progress to find a cure. Research into a cure has three possible directions at this time.
· One day, a small molecule may be used to turn off the “switch” that leads to the development of fibrous tissue instead of bone in FD and Cherubism. Dr. Michael Collins is leading the Small Molecule effort at the NIH, with input from Dr. Pam Robey, to find molecules that act on the mutated protein that causes FD.
· One day, there may be a way to introduce “good” genes into affected individual’s bodies to correct for the mutation before it initiates the molecular pathway that results in FD. The Gene Therapy/Cell Therapy approach is being led by Dr. Paolo Bianco and Dr. Mara Riminucci in Rome, Italy.
· One day, it will be possible to re-grow bone in the lesion sites of individuals with FD, limiting the likelihood of fractures. Dr. Robey is leading the Tissue Engineering efforts at NIH, based on her development of clinical grade human cells and investigation of scaffold materials.
Quality of Life Research:
There is no cure and Fibrous Dysplasia, McCune Albright and cherubism patients live with pain and social stigma. Basic research is necessary into the ways in which patients deal with pain and social discomfort to understand better how to help children through their adolescence into adulthood. This understanding is also the foundation for educating the public about meeting our needs.
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ANNOUNCING THE FIBROUS DYSPLASIA FOUNDATION
SUMMER RESEARCH INTERNSHIP
The FD Foundation has initiated a research internship program for medical students to facilitate ongoing investigation of medical and quality of life issues pertaining to FD, MAS an Cherubism. The first award made for the summer of 2010 will enable John’s Hopkins University orthopedic surgeon Dr. Arabella Leet to examine proximal femur fractures and graft absorption in FD lesions with Dr. Collins.
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Another way large contribution the FD Foundation can make to establishing scientifically based treatment modalities is to initiate and maintain a registry/biorepository of clinical and biological data about individuals affected by FD, MAS and Cherubism.
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ANNOUNCING THE FIBROUS DYSPLASIA FOUNDATION REGISTRY/BIOREPOSITORY
Investing in a registry is critical in rare diseases such as ours, where randomized clinical trials are not feasible due to our small numbers and the immense variability of the disease. A registry will allow for the collection of standardized data on an international basis and make invaluable clinical material available to basic scientists, perhaps extending the number that are working on our rare diseases. This data will enhance the understanding of the variability, progression, identification, and natural history of our diseases. Periodically, the registry can be used to generate reports on patient outcomes to assist the medical community in determining which treatments work and which don’t.
A subcommittee of the Board of Directors is in the process of determining what type of registry would best suit the needs of our unique population and the timeline for its development.
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A third way the FD Foundation can contribute to establishing scientifically based treatment modalities is to facilitate patient’s voluntary involvement in scientific research.
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HOW TO FIND OUT ABOUT CLINICAL TRIALS
The federal government sponsors the database ClinicalTrials.gov to help people locate scientists studying a wide range of medical conditions and diseases. If you would like to contribute to the accumulation of scientific knowledge about Fibrous Dysplasia, McCune Albright Syndrome, or Cherubism, which will result in better diagnosis of treatment of people with your condition, you should check it out. Follow the 3 steps below to access the appropriate regions of ClinicalTrials.gov.
Step 1: Type the following URL into your browser: http://clinicaltrials.gov/ct2/search.
Step 2: You will see a box below the following statement in the middle of your screen: “
recruiting participants as well as those that are completed.
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Scientists are engaged in ongoing genetic and cellular studies of various kinds related to the diseases of Fibrous Dysplasia, McCune Albright Syndrome and Cherubism. Some contact the FD Foundation in search of participants. Below we list contact information and descriptions provided to us by investigators. Many of these researchers are in conversation. You should feel free to contact more than one.
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CHERUBISM RESEARCH
CONTACT: Ernst Reichenberger, PhD (Assistant Professor)
University of Connecticut Health Center (UCHC)
Center for Restorative Medicine and Skeletal Development
Department of Oral Rehabilitation, Biomaterials and Skeletal Development
263 Farmington Avenue
Farmington, CT 06030-3705
Tel: 860-679-2062
Fax: 860-679-2910
email: reichenberger@uchc.edu
Since discovering the first mutations for cherubism we have been studying the effects of these mutations in cells and blood of patients. A mouse model for cherubism revealed some important information, which we are now studying in humans.
We are looking for parallels in human patients with active cherubism lesions, i.e. in children where cherubism lesions are currently enlarging. In the course of the study, we perform gene testing and blood tests. If tissue becomes available from surgery, we investigate cells as well. The purpose of our investigation is to learn more about the biology of cherubism to find out whether these findings may influence future treatment. Please contact us if you would like to like to find out more about the study. Our work on cherubism is in collaboration with Dr. Olsen’s group in Boston (see below).
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CHERUBISM RESEARCH
CONTACT: B.R Olsen
Harvard-Forsyth Department of Oral Biology
140 The Fenway
Boston MA 02115
Tel: (617) 262 5200 ext 303
Fax: (617) 437 9822
Email: olsenlab@forsyth.org
We have found one gene that can cause cherubism and currently study the function of this gene during the development of cherubism. We are actively recruiting families and individuals with this disorder to participate in our study. We will ask you to fill in a questionnaire regarding the disorder and to allow us to obtain a small amount of your blood. Please contact us for more information if you are a patient yourself, a member of a family, or if you are a physician and would like to collaborate.
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PLEASE CONTRIBUTE TO SUPPORT RESEARCH ON FIBROUS DYSPLASIA, McCUNE –ALBRIGHT SYNDROME & CHERUBISM: https://www.fibrousdysplasia.org/donations.php
