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for Mitochondrial Disease Research
The Division of Cardiology in collaboration with the Division of Pediatric Cardiology of the College of Physicians and Surgeons of Columbia University at the Columbia-Presbyterian Medical Center in New York are recruiting patients for a federally funded study of heart blood flow and fatty acid metabolism using positron emission tomography (PET) scanning in patients with inherited or acquired cardiomyopathy (heart failure).
The aim of the study is to determine the prevalence and severity of abnormal fatty acid metabolism in patients with inherited or acquired heart failure in order to gain a better understanding of how heart metabolism is affected by these disorders. Our ultimate goal is to identify and treat such cardiomyopathies with pharmacologic therapy designed to correct the metabolic abnormalities, and ultimately, in those with inherited defects, with gene replacement therapy. Under normal circumstances, fatty acids serve as the major source of energy for the heart. Some forms of inherited or familial cardiomyopathy are due to deficient or inactive enzymes involved in the metabolic pathways involving fatty acids. These abnormalities in fatty acid metabolism can lead to insufficient energy production and may also lead to heart failure because of the accumulation of certain metabolites of fatty acids in the heart muscle. PET scanning permits precise measurement of blood flow and metabolism in the heart using the administration of a small amount of radioactive fatty acids by vein. The whole procedure takes about 3 hours, but actual scan time is about 1 hour (three 20 minute scans). In subjects under 18 years of age, the amount of radioactivity administered is approximately equivalent 1 year of background radioactivity and is considered by the FDA to be within the limits allowed for experimental procedures of the type. However, radiation risk is cumulative, so any additional radiation exposure should be carefully considered.
Patients who are eligible for this study include those with inherited (familial) cardiomyopathy and their unaffected siblings (to determine whether perfusion and metabolism of the non-affected sibling’s heart is normal), and patients with idiopathic cardiomyopathy (i.e. when no cause can be found for the heart failure) as well as their unaffected siblings (to determine whether abnormalities in heart perfusion or metabolism are normal in these children).
There is no cost to the patient. The patient’s primary physician must provide a referral to Columbia-Presbyterian Medical Center for the scan. For more information, you may contact Dr. Daphne Hsu, Division of Pediatric Cardiology at (212) 305-6575, or Dr. Steven Bergmann, Division of Cardiology at (212) 305-7594. Patient scheduling is made through Melanie Phipps, R.N., at (212) 305-0897. Visit them on the web at: http://cpmcnet.columbia.edu/dept/cardiology or http://cpmcnet.columbia.edu/dept/radiology/pet
Maternal Inheritance Study, Children's Hospital, Los Angeles
Dr. Richard Boles is developing a new diagnostic technique for identifying mitochondrial DNA (mtDNA) mutations. This is a UMDF-sponsored study to develop the TTGE diagnostic tool (see Mitochondrial Disease Projects Funded by the UMDF). He is looking for blood samples from patients falling into one of the following categories:
1. Known mtDNA sequence variations, whether pathogenic (mutations), benign polymorphisms, or of unknown significance. Heteroplasmic or homoplasmic. Common mutations of MELAS and MERRF not needed.
2. Maternal inheritance pedigrees (definite or strongly suspected). Any affected mother-child pair would qualify.
For more information contact: Dr. Richard Boles, M.D., Children's Hospital of Los Angeles, 4650 Sunset Blvd, Mail Stop: 90, Los Angeles, CA 90027, (213) 669-2178.
Pearson Marrow - Pancreas Syndrome: International Survey
Physicians Invitation (Patients and Parents Notify Your Physicians...)
An international medical - scientist survey has been initiated to target clinical details and long-term tracking of patients with Pearson's Marrow-Pancreas Syndrome. We would like to invite your interest in contacting us if you follow, or have knowledge of, patients within the Pearson's Syndrome spectrum (proven or not proven), in order potentially to recognize tracking-details of the natural history of these individual patients.
Additional information concerning this Survey can be found on the Internet through the World Wide Web at: http://www.swmed.edu/home_pages/pearson/survey.htm
Please direct inquiries to:
This announcement originally appeared in the UMDF's Mitochondrial News newsletter.
The Congenital Lactic Acidemia DCA Trial (CLADCAT) at the University of California, San Diego (UCSD).
The investigators at UCSD have been performing a study of DCA in the treatment of congenital lactic acidemia since 1995. The clinicians who are directly involved at UCSD include specialists in Pediatrics, Biochemical Genetics and Child Neurology, and they are committed first and foremost to optimizing treatment for each individual. In addition, there are pharmacologists and neurobehavioralists involved in the study. According to the practice patterns at UCSD, the initial evaluation is comprehensive. There is no placebo treatment in this study- if you or your child meets the entry criteria, the medicine will be given. Return trips to San Diego are necessary at 6 month intervals. There should be no cost to the families participating in this study, and parents may stay either with their child on the Clinical Research Center during each hospitalization or alternate arrangements may be made at the UCSD Medical Center Bannister House or significant discounts can be arranged at one of several nearby motels. Also, passes can be arranged for family members to visit area attractions such as the Zoo. Air travel to and from San Diego are generally subsidized by charitable organizations. Inquiries about this clinical trial may be directed to Richard H. Haas, M.D., Bruce A. Barshop, M.D., Ph.D., William L. Nyhan, M.D., Ph.D., Robert K. Naviaux, M.D., Ph.D., or to Angie Longenecker, R.N., Department of Pediatrics, Box 0830, UCSD School of Medicine, La Jolla, CA 92093; phone 888-FOR-MITO (888-367-6486) or 619-294-6104; email: alongenecker@ucsd.edu.
The Dichloroacetate (DCA)/Congenital Lactic Acidosis (CLA) Clinical Trial at the University of Florida is assessing the safety and efficacy of DCA as a treatment for CLA. It is supported by the National Institutes of Health and operates under approval of the Food and Drug Administration. DCA is an investigational drug that we believe may benefit children with CLA, both in terms of reducing the acidity of their blood and preventing or decreasing neuromuscular damage. The FDA has agreed to consider approving DCA for more general use in CLA, if our investigation can demonstrate the drug is safe and significantly improves the quality of life of patients, as evaluated under the ethically and scientifically rigorous design of a controlled clinical trial. This clinical trial began in 1994, and we are anxious to recruit additional children to it. Each patient is evaluated and treated over a two year period by pediatricians, neurologists, neurobehaviorists and pharmacologists at the University of Florida's Clinical Research Center (CRC). There is no cost to the families participating in this study, and parents stay with their child on the CRC throughout each hospitalization. Flights to and from Gainesville, Florida, are coordinated by Mercy Medical Airlift, a charitable pilot's organization. MORE INFORMATION IS AVALIABLE ON THE WORLD WIDE WEB AT: http://cla-dca.gcrc.ufl.edu. Inquiries about DCA and this clinical trial should be directed to Peter W. Stacpoole, Ph.D., M.D., Director, Clinical Research Center, or to Leigh Ann Perkins, R.N. Box 100226, University of Florida, College of Medicine, Gainesville, FL 32610; phone 352-392-2321; fax 352-846-0990; E-mail: perkila@medicine.ufl.edu.
This announcement originally appeared in the UMDF's Mitochondrial News newsletter.
Grants for Mitochondrial Disease Research
In 1999 the UMDF will award a total of $40,000 in grants for research into the causes, effects, and treatments for mitochondrial disease.
Projects eligible for consideration must fall into one of the following categories:
Grants may be for one or two years, and renewed for up to one additional year. Letters of Intent and subsequently solicited proposals are reviewed by the UMDF’s Scientific Advisory Board.
Grant cycles begin each July 1 with funding taking place by the following July 1. Please contact the UMDF for further information on the UMDF grant program.
Previous projects funded by the UMDF.
For more information on our grant program contact the UMDF:
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The United Mitochondrial Disease Foundation, P.O. Box 1151, Monroeville, PA 15146-1151, Phone: (412) 793-8077, FAX: (412) 793-6477
Last Update: 17-Apr-98
