The progeria research foundation: Its remarkable journey from obscurity to treatment

Expert Opinion on Orphan Drugs

Volumn 2, Issue 11, 2014, Pages 1187-1195

  Gordon, Audrey ^a   Gordon, Leslie ^a,b  

^a The Progeria Research Foundation   (United States)

^b BROWN UNIVERSITY   (United States)

Author keywords

Hutchinson Gilford progeria syndrome; Patient advocacy organization; Progeria; Rare disease organization; The Progeria Research Foundation

Indexed keywords

BASIC RESEARCH; CLINICAL TRIAL (TOPIC); DRUG RESEARCH; EARLY INTERVENTION; FUNDING; GENE MUTATION; HEALTH EDUCATION; HUMAN; MEDICAL LITERATURE; MEDICAL RESEARCH; NON PROFIT ORGANIZATION; ORGANIZATIONAL STRUCTURE; PATIENT ADVOCACY; PRACTICE GUIDELINE; PROGERIA; PUBLIC HEALTH SERVICE; PUBLIC RELATIONS; QUALITY OF LIFE; REFERENCE DATABASE; REVIEW; SOCIAL MEDIA; UNITED STATES; VOLUNTEER; WORKSHOP;

EID: 84910050809     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2014.970172     Document Type: Review

References (15)

1. Kieran MW, Gordon LB, Kleinman ME. The role of the farnesyltransferase inhibitor lonafarnib in the treatment of progeria. Exp Opin Orphan Drugs 2014;2:95-105
2. Gordon LB, Rothman FG, López-Otín C, Misteli T. Progeria: a paradigm for translational medicine. Cell 2014;156:400-7
3. Gilford H. Progeria: a form of senilism. The Practitioner; 1904. 188-217
4. De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in hutchinson-gilford progeria. Science 2003;300:2055
5. Eriksson M, Brown WT, Gordon L, et al. Recurrent de novo point mutations in lamin a cause hutchinson-gilford progeria syndrome. Nature 2003;423:293-7 •• This publication defined the Progeria gene mutation and opened myriad doors for exploring disease and treatment potential for children with Progeria.
6. Gordon LB. PRF by the numbers. Available from: www.progeriaresearch.org [Accessed 7 August 2014] •• This resource provides longitudinal ongoing essential statistics on patient identification and other key patient outreach information.
7. Gordon LB, Massaro J, D'Agostino RB, et al. Impact of farnesylation inhibitors on survival in hutchinson-gilford progeria syndrome. Circulation 2014 •• This analysis provides the first evidence that lifespan can be extended through Progeria-specific treatment.
8. McClintock D, Ratner D, Lokuge M, et al. The mutant form of lamin a that causes hutchinson-gilford progeria is a biomarker of cellular aging in human skin. PloS One 2007;2:1-9
9. Olive M, Harten I, Mitchell R, et al. Cardiovascular pathology in hutchinson-gilford progeria: Correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol 2010;30:2301-9 •• This study shows an overlap between the causal protein in Progeria, progerin, and cardiovascular aging in the general population.
10. Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Disease progression in hutchinson-gilford progeria syndrome: Impact on growth and development. Pediatrics 2007;120:824-33
11. Merideth MA, Gordon L, Clauss S, et al. Phenotype and course of hutchinson-gilford progeria syndrome. N Eng J Med 2008;358:592-604
12. Ullrich NJ, Kieran MW, Miller DT, et al. Neurologic features of hutchinson-gilford progeria syndrome after lonafarnib treatment. Neurology 2013;81:427-30
13. Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with hutchinson-gilford progeria syndrome. Proc Natl Acad Sci USA 2012;109:16666-71 •• This is the first-ever treatment trial success for children with Progeria.
14. Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Med Chir Trans 1886;69:473-7
15. Scaffidi P, Misteli T. Lamin a-dependent nuclear defects in human aging. Science 2006;312:1059-63