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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 the 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

Use of Materials in Publications:

For all publications resulting from the use of information obtained from The Progeria Research Foundation Medical and Research Database, researchers are required to include the following quotation within the materials and methods section (not simply the acknowledgments). This wording may vary slightly, depending on which information was supplied for the research.

“Deidentified clinical information was obtained from The Progeria Research Foundation (PRF) Medical and Research Database (”


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 2019 by The Progeria Research Foundation. All rights reserved.

 The first edition of the handbook is available in Spanish and Portuguese versions. Translations of the second edition of the handbook in Spanish and Portuguese will be posted when available.


Journal Articles

Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome
Díez-Díez M, Amorós-Pérez M, de la Barrera J, et al. [published online ahead of print, 2022 Jun 25]. Geroscience. 2022;10.1007/s11357-022-00607-2. doi:10.1007/s11357-022-00607-2

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.
Gordon LB, Shappell H, Massaro J, D’Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.Gordon LB, et al. JAMA. 2018 Apr 24;319(16):1687-1695. doi: 10.1001/jama.2018.3264.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.Lessel D, et al. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.Hum Genet. 2018. PMID: 30450527

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS.DuBose AJ, et al. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4206-4211. doi: 10.1073/pnas.1802811115. Epub 2018 Mar 26.Proc Natl Acad Sci U S A. 2018. PMID: 29581305

Ophthalmologic Features of Progeria.
Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.
Am J Ophthalmol. 2017 Jul 27. pii: S0002-9394(17)30317-3. doi: 10.1016/j.ajo.2017.07.020. [Epub ahead of print]

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.
J Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136/jmedgenet-2016-104295. Epub 2016 Dec 5.

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations.
Rivera-Torres J, Calvo CJ, Llach A, Guzmán-Martínez G, Caballero R, González-Gómez C, Jiménez-Borreguero LJ, Guadix JA, Osorio FG, López-Otín C, Herraiz-Martínez A, Cabello N, Vallmitjana A, Benítez R, Gordon LB, Jalife J, Pérez-Pomares JM, Tamargo J, Delpón E, Hove-Madsen L, Filgueiras-Rama D, Andrés V.
Proc Natl Acad Sci U S A. 2016 Nov 15;113(46):E7250-E7259. Epub 2016 Oct 31.

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.
Gordon LB, Kleinman ME, Massaro J, D’Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.
Circulation. 2016 Jul 12;134(2):114-25. doi: 10.1161/CIRCULATIONAHA.116.022188.

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.

 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 syndromeoral 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].

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.