First Successful Treatment for Progeria, Rare Childhood Disease
Key points
- Results of the first clinical drug trial for children with a rare rapid-aging disease, known as Progeria, has shown successfulness with a farnesyltransferase inhibitor (FTI), a drug first used to treat cancer.
- The oral medication, the FTI lonafarnib, was given twice daily over the course of the study.
- After the discovery of the gene that causes Progeria, FTIs were suggested as a potential drug treatment.
- The clinical trial results showed significant improvements in bone structure, weight gain, and most importantly, the cardiovascular system, according to new research published in Proceedings of the Natural Academy of Sciences.
Results of the first clinical drug trial for children with a rare rapid-aging disease, known as Progeria, has shown successfulness with a farnesyltransferase inhibitor (FTI), a drug first used to treat cancer.
The clinical trial results showed significant improvements in bone structure, weight gain, and most importantly, the cardiovascular system, according to new research published in Proceedings of the Natural Academy of Sciences.
Also known as Hutchinson-Gilford Progeria Syndrome (HGPS), Progeria is a rare and fatal genetic disease displaying an appearance of rapid aging in children. The disease becomes fatal when those affected develop the same heart disease (atherosclerosis), as millions of normal aging adults. Instead of this occurring at 60 or 70 years of age, children with Progeria can suffer heart attacks or strokes starting at the age of 5, with the average age of death being 13.
Leslie Gordon, MD, PhD, lead author of the study, medical director for PRF, and mother of a child with Progeria, says:
"To discover that some aspects of damage to the blood vessels in Progeria can not only be slowed by the FTI called lonafarnib, but even partially reversed within just 2.5 years of treatment is a tremendous breakthrough, because cardiovascular disease is the ultimate cause of death in children with Progeria."
The two and a half year drug study consisted of 28 children from 16 different countries, accounting for 75 percent of Progeria cases worldwide. Twenty-six of the 28 children had the classic form of the disease. All 28 children traveled to Boston every four months to receive extensive medical testing through Children's Hospital's Clinical and Translational Study Unit.
Signs and symptoms of this progressive disorder include:
Slowed growth, with below-average height and weight
A narrowed face and beaked nose
Hair loss (alopecia), including eyelashes and eyebrows
Hardening and tightening of skin on trunk and extremities (scleroderma)
Head disproportionately large for face
Thin lips
Visible veins
Prominent eyes
Small lower jaw (micrognathia)
High-pitched voice
Delayed and abnormal tooth formation
Diminished body fat and muscle
Stiff joints
Hip dislocation
Insulin resistance
Irregular heartbeat
Written and revised by
Gerald Hurowitz, M.D.
Our doctors write and review articles for accuracy and keep them up to date.
health.am provides general information, not medical advice. Always consult a qualified health professional about your own health.
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