We’re excited to share two thrilling research updates with you, published online today in the world’s top cardiovascular journal, Circulation (1):
Biomarker in Progeria
A new way to measure progerin, the toxic protein that causes Progeria, has been developed by a team led by PRF co-founder and Medical Director, Dr. Leslie Gordon. With the discovery of this biomarker, which uses blood plasma to measure progerin levels, researchers can understand how treatments are affecting clinical trial participants after a shorter period of time and at multiple points along each clinical trial.
This test can optimize the clinical trial process by providing early information about the effectiveness of treatments being tested, as a lead-in to other clinical tests such as weight gain, dermatologic changes, joint contracture and function, etc., all of which require much more time to manifest. These clinical features of Progeria are important longer-term measures of treatment effects that are now complemented by the progerin levels measured earlier in therapy. We may now be able to understand treatment benefits as early as four months after starting treatment, or stop a treatment that may not benefit the trial participant, to avoid unnecessary side effects.
Even longer lives with lonafarnib
In addition to speeding up future treatment and cure discoveries, this new and innovative way to measure progerin indicates that the long-term benefit of lonafarnib for children with Progeria is greater than previously determined.
Study data indicate that lower progerin levels in the blood reflected survival benefit: the longer someone with Progeria stayed on lonafarnib, the greater the survival benefit from being on therapy. Progerin levels were decreased by about 30-60% for as long as the drug was taken, and life expectancy for patients on treatment for over 10 years was estimated to increase by almost 5 years. That’s more than a 35% increase in average lifespan, from 14.5 years to almost 20 years of age!
“One of the most remarkable stories ever shared on this podcast”
– Dr. Carolyn Lam, world renowned heart specialist and host of the podcast Circulation on the Run, on the journey that led to these exciting findings. Hear the full interview about the profound impact of this study directly from Dr. Gordon. Listen here (starting at 6:41).
(1) Gordon, L.B., Norris, W., Hamren, S., et al. Plasma Progerin in Patients with Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation. Circulation, 2023
(2) Progression of Cardiac Abnormalities in Hutchinson-Gilford Progeria Syndrome: A Prospective Longitudinal Study.
Olsen FJ, Gordon LB, Smoot L, Kleinman ME, Gerhard-Herman M, Hegde SM, Mukundan S, Mahoney T, Massaro J, Ha S, Prakash A.
Circulation. 2023 Jun 6;147(23):1782-1784. doi: 10.1161/CIRCULATIONAHA.123.064370. Epub 2023 Jun 5.
(3) Readily Available Tools to Detect Progerin and Cardiac Disease Progression in Hutchinson-Gilford Progeria Syndrome.
Eriksson M, Haugaa K, Revêchon G.
Circulation. 2023 Jun 6;147(23):1745-1747. doi: 10.1161/CIRCULATIONAHA.123.064765. Epub 2023 Jun 5.