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From Wikipedia. Source The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. Scaffidi P, Gordon L, Misteli T. PLoS Biology Vol. 3/11/2005, e395 http://dx.doi.org/10.1371/journal.pbio.0030395.

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PNAS open access

Published By

Dr. Dick van der Wateren



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New cure to improve condition of progeria patients

06.10.2012, Age: 2256 days

A research group led by Leslie Gordon from Boston Children’s Hospital and Harvard Medical School, performed a clinical test of farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome, a medicine that helps to relieve some of the adverse effects of this rare disease.

Hutchinson–Gilford progeria syndrome, short: progeria syndrome, is an extremely rare genetic disease causing children to age ten times faster than healthy children. Only one in 8 million children are born with this genetic disorder. Progeria patients rarely age beyond their early teens. The disease has remained uncurable so far; treatments such as surgery and aspirin may help to reduce risk of cardiovascular disease.

Progeria patients lose body fat and muscle, develop stiff joints, hip dislocations, and other symptoms that are usually found only in the elderly population. The medicine tested in this study relieves some of these symptoms.

Abstract

Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies. Twenty-five patients with HGPS received the farnesyltransferase inhibitor lonafarnib for a minimum of 2 y. Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain. Nine patients experienced a ≥50% increase, six experienced a ≥50% decrease, and 10 remained stable with respect to rate of weight gain. Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups. All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status.

Leslie B. Gordon & 20 co-authors, 2012. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. PNAS October 9, 2012 vol. 109, no. 41 16666-16671.



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