Progeria: early ageing condition in children now has a breakthrough cure

The first-ever clinical drug trials for children with Progeria have proven effective. The Progeria Research Foundation (http://www.progeriaresearch.org), on September 24, officially announced a cure for Progeria. Lonafarnib, a type of farnesyltranferase inhibitor (FTI)—originally developed to treat cancer—has had effective results for Progeria. The results of the study, funded and coordinated by The Progeria Research Foundation, were published on September 24, 2012, in Proceedings of the National Academy of Sciences.

Progeria is a condition in which people age rapidly, such that a ten-year-old will look like an eighty-year-old, yet still be small with the mind of a normal ten-year-old. Hence, it is a condition of the body, and not the mind. It is an extremely rare, fatal condition.

According to Medical News Today (http://www.medicalnewstoday.com) Progeria is derived from Greek, meaning “before old age.” It is also referred to as Hutchinson-Gilford Progeria Syndrome (HGPS).

It was thought to be caused by a rare gene change (mutation), and not hereditary. It rarely occurs twice in one family and is not seen in affected children. They do not show symptoms at birth. These become apparent when they are between 10-24 months old.

Previously there was no known cure; only the symptoms were treated. Progeria symptoms include: early aging; inhibited growth; baldness; loss of eyebrows and eyelashes; enlarged head (macrocephaly); small jaw; thin skin; and delayed or absent formation of teeth. Although they come from different backgrounds, they have a similar, distinct appearance.

Children who suffer from Progeria are susceptible to heart disease (such as high blood pressure, stroke, angina, enlarged heart and heart failure), which is their leading cause of death—the same medical problems of an aged person. People with Progeria generally live to 8-21 years (with the average life span of 13 years).

Early experiments with 13 mice treated with FTI resulted in only one death during the 20-week University of Chicago Laboratory Schools (UCLS) study. The drug treatment on children showed that every child made significant improvements in one or more of four ways, announced the Progeria Research Foundation: (1) gaining additional weight; (2) improved hearing; (3) improved bone structure; and/or (4) increased flexibility of blood vessels.

Twenty-eight children from sixteen countries participated in the 2.5 year drug trial, representing 75% of known Progeria cases worldwide. The children travelled to Boston, America, every four months to attend the Boston Children’s Hospital’s Clinical and Translational Study Unit. All 28 children received oral Lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years. The primary outcome measure was the rate of weight gain, because Progeria children have delayed or inhibited growth with only a very slow linear rate of weight gain over time. In addition, the major blood vessels improved. This was important because Progeria children have accelerated cardiovascular disease which causes their death. This improvement may lead to longer lives for Progeria children.

Researchers plan to continue exploring the effects of FTIs and the aging process. The Progeria Research Foundation believes that, at any given time, there are about 200-250 children living with Progeria. This means a reported incidence of approximately 1 in every 4-8 million new-borns—making the condition extremely rare. Both boys and girls have an equal risk of having Progeria.

In September 2012, the Progeria Research Foundation determined that there were 96 children with Progeria living in 35 countries. The children span five continents, and range in age from 8 months to 20 years. It affects children of all races equally. The countries with reported cases, to date, include: Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, The Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the United States of America, Venezuela, Vietnam, and Yugoslavia.

Before the clinical trials two years ago, the PRF knew of 54 Progeria children. Finding more around the world means that they can be treated, thus aiming to improve and extend their lives.

(http://www.progeriaresearch.org/first-ever-progeria-treatment.html)

MARTINA NICOLLSis an international aid and development consultant, and the authorof:- Similar But Different in the Animal Kingdom(2017), The Shortness of Life: A Mongolian Lament (2015), Liberia’s Deadest Ends (2012), Bardot’s Comet (2011), Kashmir on a Knife-Edge (2010) and The Sudan Curse (2009).