Global Campaign to find all children with Progeria
The campaign was launched by the Progeria Research Foundation (PRF) and has already managed to identify 14 new children with this rare disease, bringing the overall number of known cases from 54 to 68, a 26% increase. With a frequency of 1 in 4-8 million, there are an estimated 200 children around the world who have Progeria. The most recent cases identified live in Brazil, India, Japan, Peru, Turkey, the Philippines, Portugal, South Africa and the United States.
“Most of the children we recently made contact with would have remained isolated and would have missed the opportunity to better their care and participate in research activities if it had not been for this massive outreach effort,” argues Audrey Gordon, President and Executive Director of the Progeria Research Foundation. “We need to keep the momentum going.”
Progeria (also known as Hutchinson–Gilford progeria syndrome) is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. Children affected by Progeria usually have small, fragile bodies, like those of elderly people. They show distinct features such as very thin skin, baldness, small faces and pinched noses, which make them easily recognisable.
“We are hoping that by disseminating information and images of Progeria patients, people who do not know about us or have not been diagnosed yet, will come forward,” explains Leslie B. Gordon, MD, PhD, Medical Director at PRF and mother of a child affected by Progeria. “What is very interesting about Progeria is that these children – who all die of premature heart disease at an average age of 13 years – may help researchers learn more about normal heart disease and aging.”
The Progeria Research Foundation’s viral campaign to reach all children affected by this very rare condition shows that patients can make a difference. In recent years in France, the AFM-Téléthon has also helped identify new cases and raise awareness about this disease. A memorable case is Mégane, a Progeria patient, who became the mascot of the French Telethon and an ambassador for her disease and rare diseases in general.
Mégane was interviewed on French national TV together with Dr Nicolas Levy, the leading French researcher for this disease and Head of Molecular Genetics at the Timone Childrens Hospital in Marseilles. Shortly before, there had been a breakthrough in research when the Progeria gene was discovered by two teams, one in the US, led by Dr. Francis Collins and PRF, and the other in France, led by Dr. Levy, with funds from the AFM-Téléthon.
Mégane knew that she would not benefit from this research acceleration but encouraged people to donate so that research could aid the next generation. She died in 2008 at the age of 15. That same year, a clinical trial, led by Dr. Levy was started in Europe, with 3 patients from France and Belgium. Later, 12 more patients joined the study. At that time there were only 25 cases known in Europe.
A year earlier, in May 2007, PRF and a research team at the Children's Hospital Boston had launched a clinical trial. In order to find out if a particular drug could slow down the progression of the disease, the trial needed to enrol a large proportion of the known cases to date. This meant flying 28 children to Boston from 15 different countries, including Pakistan, Argentina and Venezuela. Many participants did not speak English and had never left their country before. PRF put a great deal of effort into funding the trial, answering medical questions, arranging for trial documents to be translated into a variety of languages, and arranging for the families to travel to Boston every few months for testing and new drug supply. “All patients have completed their visits though the results are not yet published, as the data is still being analysed. Another larger drug trial involving a combination of 3 drugs1 began in August 2009 here in Boston and is ongoing,” explains Audrey Gordon. “We are thrilled that there are now multiple clinical trials from which to discover more about Progeria and potential treatments.”
The Progeria patients identified through the “Find the other 150” campaign, will potentially benefit from these life-changing treatments and will be able to connect with local medical professionals and other families of children with Progeria.
PRF has set up a special web site with Progeria fact sheets, photo galleries and a collection of podcasts in six languages (English, German, Spanish, Italian, Turkish and Portuguese) to help put a face to Progeria. Please visit www.findtheother150.org and help spread the word!
1US drug trials:
Trial #1: Farnesyltransferase inhibitors (FTIs), originally developed for cancer, are capable of reversing the dramatic nuclear structure abnormalities that are the hallmark of cells from children with Progeria. And this FTI drug improves some signs of disease in a Progeria-like mouse model. FTIs are not approved for other therapeutic indications.
Trial #2 uses 3 drugs: the FTI Lonafarnib and Pravastatin (marketed as Pravachol or Selektine) which is a member of the drug class of statins. It is usually used for lowering cholesterol and preventing cardiovascular disease. Zoledronic acid is a bisphosphonate, usually used as a bone drug for improving osteoporosis, and to prevent skeletal fractures in people suffering from some forms of cancer.
Author: Paloma Tejada
Photo & video: © Progeria Research Foundation
This article was first published in the November 2010 issue of the EURORDIS newsletter