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Progeria: Parent Power

October 18, 2013

The documentary, “Life According to Sam”, is the journey of Sam Berns, his parents Dr. Leslie Gordon and Dr. Scott Berns, and their journey to find a cure for the rare premature, progressive, aging disease, Progeria. The documentary is directed by two Oscar-winning filmmakers, Sean and Andrea Fine. The documentary is coming to theatres on Friday, October 18. It is also debuting on Monday, October 21, at 9:00 PM,  and on Wednesday, October 23, at 8:00 PM, on HBO. Upcoming screenings include:

•   Heartland Film Festival, Indianapolis, IN, October 17-26

•   New Hampshire Film Festival, Portsmouth, NH, October 17-20

•   Rocky Mountain Women’s Film Festival, Colorado Springs, CO, November 1-3

•   Boston Jewish Film Festival, Foxboro, MA, November 6-18.

Progeria is a fatal genetic condition that rapidly ages certain systems of the body. All children with Progeria die of the same heart disease that affects millions of normal aging adults – arteriosclerosis. The intellect of children with Progeria is unaffected despite physical changes in their young bodies. The disease affects 1/4,000,000 children. There are approximately 200 – 250 children living worldwide with Progeria today.

Sam is diagnosed with Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), in 1998 at the age of 2. Little is known about the disease in 1998, and most children died at an average age of 13 due to a stroke or a heart attack. When told of the diagnosis and prognosis, Sam’s parents didn’t accept this. It is Sam’s parents who work relentlessly to pursue treatments and a cure for Progeria. Dr. Gordon, with the support of her husband, a pediatric ER doctor, devotes herself and her career to studying the disease. The Progeria Research Foundation (PRF) is created in 1999 and raises $1.25 million within 4 years, for the purpose of identifying the gene that causes the disease.

After the gene is identified, the first potential drug treatment using experimental drugs called Farnesyl Transferase Inhibitors (FTIs) are found by researchers funded by PRF. Dr. Gordon then gathers a team of scientists and doctors and in 2007, launches the first Progeria drug trial with the FTI Lonafarnib. The clinical trial has 28 children, including Sam, from 16 countries. The trial continues for 2 years, 2007-2009, with positive results. PRF is currently co-funding and coordinating the “Triple Drug Trial,” that tests FTIs with two other drugs. PRF also has an International Progeria Registry, cell and tissue bank, medical and research database, diagnostic testing, and other programs.

In April 2011, the FDA grants the Progeria Research Foundation orphan drug designation for Lonafarnib for the treatment of HGPS :

Generic   Name:

lonafarnib

Trade   Name:

n/a

Date   Designated:

04-18-2011

Orphan   Designation:

Treatment of Hutchinson-Gilford   progeria syndrome

Orphan   Designation Status:

Designated

FDA Orphan Approval Status:

Not FDA Approved for Orphan   Indication

Sponsor:  

The Progeria Research Foundation,   Inc.
P. O. Box 3453
Peabody, MA 01961-3453

PRF is the only non-profit organization solely dedicated to Progeria treatments and to finding a cure. The Foundation is a great example of a ”successful translational research organization, moving from creation, to gene discovery, to first-ever drug treatment in just 13 years”. It is the dedication and passion of Sam’s parents, “parent power”, that pushes the search for a cure for Progeria. The documentary is their story, an account of how parents become advocates and the drivers for finding treatments and cures, promoting rare disease awareness, and becoming the force for uniting all stakeholders in this journey.

Please Note: “Wind Power” by neekoh.fi (Uploaded by Markos90) [CC-BY-2.0] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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