What is the International Medical and Research Database?
We collect the medical records for children with Progeria from all over the world. Then we look at every aspect of medical care that has been given to the children. We perform statistical analyses, and look at what treatments have worked for maintaining quality of life and what treatments have not worked. Most doctors have only seen one child with Progeria, and they are not sure what to do when the child needs things like heart medications, anesthesia, and proper physical therapy. We have the ability to give advice to the doctors and their families based on this database program.
The Progeria Research Foundation is collaborating with Brown University Center for Gerontology and Health Care Research for this wonderful project. The Brown Center has many years of experience with creating and analyzing healthcare databases.
We also use the medical records to understand more about the basis of disease in Progeria, which serves as a springboard for new research in Progeria and in the diseases of aging such as heart disease. This may lead to clues for new treatments for the children and for all of us!
There has never been a centralized childhood Progeria database from which to draw health care information. This has led to unintentional clinical maltreatment of patients, misdiagnoses and delayed diagnoses, simply because caretakers do not know which medical strategies have been successful with other Progeria children and which have not. The goal of this project is to collect the health care records for children with Progeria and develop a centralized health database for use by health care professionals, medical researchers, and families of children with Progeria.
Aims of the Database
- To describe in detail what treatment strategies have been successful, and what treatments have failed for the medical issues faced by children with HGPS. This may help the families and their doctors understand how to best care for children with Progeria.
- To provide health care recommendations to families in non-medical language about the issues that are important to quality of life for children with HGPS.
- The database is a resource for gaining new insights into the nature of HGPS and into the nature of other diseases such as atherosclerosis, which in turn will serve to stimulate the advancement of new research projects.
Institutional Review Board Approvals:
The PRF Medical and Research Database is Institutional Review Board (IRB) approved by the Rhode Island Hospital and the Brown University Committees on the Protection of Human Subjects. Rhode Island Hospital Federal Wide Assurance FWA00001230, Study CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, Study CMTT# 0211991243
Publications Stemming From The Progeria Research Foundation Medical and Research Database
The Progeria Research Foundation Medical and Research Database has contributed to the following medical publications:
Clinical Care Handbook
The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria. Gordon, Leslie B., Executive Editor. Copyright 2010 by The Progeria Research Foundation. All rights reserved. Spanish Edition (April, 2011).
Click here to download the handbook in English.
Click here to download the handbook in Spanish.
Click here to download the handbook in Portuguese.
Hutchinson-Gilford progeria syndrome.
Ullrich NJ, Gordon LB.
Handb Clin Neurol. 2015;132:249-64.
Impact of farnesylation inhibitors on survival in hutchinson-gilford progeria syndrome.
Gordon LB, Massaro J, D’Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative.
Circulation. 2014 Jul 1;130(1):27-34. doi: 10.1161/CIRCULATIONAHA.113.008285. Epub 2014 May 2.
Initial Cutaneous Manifestations of Hutchinson-Gilford Progeria Syndrome.Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014 Jan 24: 1-7. doi: 10.1111/pde.12284.
Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment.
Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. Neurology. 2013 Jul 30;81(5):427-30. doi: 10.1212/WNL.0b013e31829d85c0. Epub 2013 Jun 28.
Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.
AJNR Am J Neuroradiol. 2013 May;34(5):1091-7. doi: 10.3174/ajnr.A3341. Epub 2012 Nov 22.
Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.
Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. AJNR Am J Neuroradiol. 2012 Sep;33(8):1512-8. doi: 10.3174/ajnr.A3088. Epub 2012 Mar 29.
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16666-71. doi: 10.1073/pnas.1202529109. Epub 2012 Sep 24
Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. Hypertension. 2012 Jan;59(1):92-7. doi: 10.1161/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.
A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome.
Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. Pediatr Radiol. 2012 Sep;42(9):1089-98. doi: 10.1007/s00247-012-2423-1. Epub 2012 Jul 1.
Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development. Rodríguez S, Eriksson M. PLoS One. 2011;6(9):e25472. doi: 10.1371/journal.pone.0025472. Epub 2011 Sep 29.
Hutchinson-Gilford progeria is a skeletal dysplasia. Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. J Bone Miner Res. 2011 Jul;26(7):1670-9. doi: 10.1002/jbmr.392.
Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascularpathology of aging. Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. Arterioscler Thromb Vasc Biol. 2010 Nov;30(11):2301-9. doi: 10.1161/ATVBAHA.110.209460. Epub 2010 Aug 26.
Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes. Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. Oral Dis. 2009 Apr;15(3):187-95. doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.
Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease. Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. J Cell Sci. 2008 Apr 1;121(Pt 7):969-78. doi: 10.1242/jcs.022913. Epub 2008 Mar 11.
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome.
Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. J Med Genet. 2008 Dec;45(12):794-801. doi: 10.1136/jmg.2008.060772. Epub 2008 Aug 15.
Phenotype and course of Hutchinson-Gilford progeria syndrome. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898.
New approaches to progeria. Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Oct;120(4):834-41. Review. Erratum in: Pediatrics. 2007 Dec;120(6):1405.
Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. Pediatrics. 2007 Oct;120(4):824-33.
Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome. Gordon LB, Harten IA, Patti ME, Lichtenstein AH. J Pediatr. 2005 Mar;146(3):336-41.
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12879-84. Epub 2005 Aug 29
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7.
Books and Documents
Hutchinson-Gilford Progeria Syndrome. Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2003 Dec 12 [updated 2011 Jan 06].
The Premature Aging Syndrome Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Chapter in the 7th edition of Brocklehurst’s Textbook of Geriatric Medicine and Gerontology. Copyright: 2010.
LMNA and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies. Gordon LB, Brown WT, Rothman FG. In C. J. Epstein, R. P. Erickson, A. Wynshaw-Boris (Eds.) Inborn Errors of Development: The molecular basis of clinical disorders of morphogenesis (2nd ed.). New York, NY: Oxford University Press. 2008 139: 1219-1229.
Sam passed away on January 10, 2014, leaving a legacy of inspiration that now drives PRF and its supporters to continue the quest for a cure, with more determination than ever. Click here to learn more about this remarkable young man.
Together with caring, dedicated board members and other generous volunteers, The Progeria Research Foundation was created to raise awareness, educate and help the families, their doctors, researchers and the general public about Hutchinson-Gilford Progeria Syndrome. In addition, PRF funds medical research and runs research-related programs specifically aimed at finding the cause*, treatments, and cure for this syndrome.
Since its inception, PRF has benefited from the leadership of Attorney Audrey Gordon, Sam’s aunt, who serves as the organization’s President and Executive Director.
Did you know?
With the exception of our staff, everyone involved with PRF is a volunteer! Our Board of Directors, Clerk, Treasurer, committee members, translators, fund-raisers, etc. all devote their time, energy and talents to furthering our mission without pay. As a result, our administrative costs are very low. This leaves more money to devote to medical research and raising public awareness, which ultimately lead to finding a cure for Progeria.
Leslie B. Gordon, MD, PhD, is PRF’s Medical Director. She is also the Principal Investigator of PRF’s research-related programs: The PRF International Registry, Cell & Tissue Bank, Medical & Research Database, and Diagnostics Testing Program, and co-author on the historic Progeria gene finding and treatment discovery*.
* Thanks to PRF’s efforts, in April 2003 PRF and the National Institutes of Health announced that the cause of Progeria, a mutation in the LMNA gene, was found, and in September 2012, the first-ever treatment was discovered.
There is much work to be done and little resources with which to do so. We cannot do it alone. With your support, the cure will be discovered for these wonderful children.
Together, we WILL find the cure.