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Research Studies.Mutational Analysis in Ehlers Danlos Syndromes Title of Project: Mutational Analysis in Ehlers Danlos Syndromes IRB # 2004-061 Principal Investigator: Clair A. Francomano, M.D. Site: National Institute on Aging The genetic basis of more than 50% of patients affected with Classical Ehlers-Danlos Syndrome and greater than 90% of Hypermobile EDS remains to be determined. We are looking for families with multiple affected members that are willing to participate in this protocol to look for the identification of previously unknown genes that cause EDS. The study involves a thorough history and physical and a blood draw, and can be completed in about half a day per person. Children ages 2 and over can be enrolled and there is space for 650 participants. There are meals provided and accommodation if patients are out of town. They can arrive the night before and stay in the unit if room is available. Travel costs are not provided, but letters of support for Angel Flight/Commercial Airlines for financially needy patients can be arranged. The discovery of new genes will help development of prenatal and confirmatory testing for diagnostic purposes. If interested, please contact Dr. Nazli McDonnell mcdonnellna@mail.nih.gov or Dr. Clair Francomano (410) 558-8201. Please include full contact information and date of birth in email. We thank everyone who has participated or is planning to participate in the Hereditary Disorders of Connective Tissue 2003-086 protocol. There are more than 130 EDS patients on the waiting list to be scheduled. We are approaching our enrollment limit and will temporarily close the study to new applicants. Limited number of spaces may become available if some of those on the waiting list can not participate. We will notify everyone if the enrollment limit is increased by the IRB. Our group works on many genetic disorders, including hereditary disorders of connective tissue such as Marfan, Stickler and EDS as well as genetic diseases of aging and hereditary cerebrovascular aneurysms with a total of seven clinical protocols. It is only possible to schedule one or two EDS patients per week due to space and resource restraints in our unit. Due to this reason, it may be many months to years before everyone who has expressed an interest can be enrolled. We very much appreciate your patience. Connective Tissue Research Study at National Institutes of Health, Baltimore Title: Clinical and Molecular Manifestations of Hereditary Connective Tissue Disorders IRB #: 2003-086 Principal Investigator: Clair A. Francomano, MD Purpose: To investigate cardiovascular, pulmonary, and musculoskeletal disease, and pain and quality of life issues in Marfan, Ehlers-Danlos, and Stickler syndromes, and closely related disorders. Site:
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Time: The study takes two days and patients may stay at the hospital during the two days of testing. Costs: Meals and lodging are provided at the hospital. Travel costs are currently the responsibility of the participant, however, the study coordinators are working to get another agency to fund travel for those who need it. Contacts: If you are interested in participating in the study or would like more information, please contact:
EDS and Speech, Language, Hearing, Voice, and Swallowing Survey EDS Today and CEDA (Canadian Ehlers-Danlos Association) are proud to announce that the EDS and Speech, Language, Hearing, Voice, and Swallowing Survey has been published. It will be on-line at the CEDA website www.ehlersdanlos.ca. Check the EDS Today website for the link to it. Paper copies are available by contacting Bonnie Heintskill, MS, CCC/SLP, principal investigator, by email or regular mail at: 307 N Bel Aire Drive, Thiensville, WI 53092-1429. Home phone number: 262-242-1642. This is a volunteer effort by Bonnie, who also has EDS herself, with the help of two other prominent speech language pathologists at a local Milwaukee area hospital. The survey covers all aspects of speech, language, swallowing, hearing, and voice disorders. Bonnie is trying to correlate the above listed possible problems and to the fact that they may be caused by EDS. Preliminary findings will help with possible funding for a larger research project. Clinical Trials.Experimental Treatment Explorers Sought Are you interested in conducting your own personal medical case study of an experimental EDS III treatment? Low dose Naltrexone has been proven safe, probably boosts your own endorphin system for improved pain and auto-immune symptom management, and may improve connective tissue healing. Contact Norman Brown, Ph.D., for information and a research package for persuading your doctors to prescribe and monitor your treatment. NIH researchers considering a clinical trial are looking to our documented experiences to help map the scope of effectiveness for this surprisingly cheap drug. We can make a difference! To check out other clinical trials, visit http://www.clinicaltrials.gov |
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