'Tremendous breakthrough' drug reverses rapid aging in children with 'Benjamin Button' disorder
Children placed on the drug saw improvements in weight gain, bone structure and heart healthExperts at Boston children's Hospital said it was a 'tremendous breakthrough'Youngsters with progeria live to the average age of 13
09:26 GMT, 26 September 2012
A drug first developed for cancer has shown great promise in treating children with Progeria, a rare and fatal rapid-aging disease.
The genetic condition, which affects one in eight million people, causes the body to age eight times faster than normal.
The disorder is said to have inspired
the F Scott Fitzgerald novella and Brad Pitt movie The Curious Case of
Benjamin Button, in which the character is born an old man and ages
Hayley Okines, 14, from Bexhill, has defied the odds to live with progeria for so long and has published her own autobiography. She participated in the Ionafarnib drug trial
Now promising results have emerged from the first-ever clinical drug trial for the condition, including improvements in weight gain, bone structure and heart health.
A third of children placed on the drug Ionafarnib demonstrated a
greater than 50 per cent increase in annual rate of weight gain or switched from
weight loss to weight gain, due to increased muscle and bone mass.
On average skeletal rigidity, which was
highly abnormal in patients at the time of the trial, improved to normal levels after
treatment. Meanwhile arterial stiffness, which is linked with an increased risk of having a heart-attack, decreased by 35 per cent.
Scientists first discovered the cause of
progeria just six years ago, pinpointing a single mutation in the gene
called LMNA, which produces a protein that holds the nucleus of a cell
The disorder is said to have inspired the F Scott Fitzgerald novella and Brad Pitt movie The Curious Case of Benjamin Button
Children with the condition produce too much of the protein progerin as a result, which blocks normal cell function and has a toxic effect on the body.
As a result children with the disease die from heart disease that is more usual in elderly adults. The average age of death is just 13 years old.
Study author Dr Leslie Gordon, from Boston Children's Hospital, said:
'To discover that some aspects of damage
to the blood vessels in Progeria cannot only be slowed by the drug
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 trial involved 26 children with the disease – which was three-quarters of the known Progeria cases when it started.
They took lonafarnib orally twice-a-day over the course of the study and visited Boston Children's Hospital every four months for comprehensive medical testing.
Measures taken included rate of weight gain as children with progeria struggle to thrive. Bone density and rigidity were also analysed as indicators of osteoporosis while arterial stiffness was studied as a predictor of stroke and heart attack.
The study results have been published in the journal Proceedings of the National Academy of Sciences.