Researchers have discovered that a treatment involving enzyme replacement therapy dramatically reduces the risk of death in children with Pompe disease, a rare genetic disorder in which most children die before their first birthday. The disorder causes profound muscle weakness and heart and breathing problems and affects as many as one in 40,000 births. The study is published in the online edition of Neurology.
"This form of treatment has changed the natural history of this otherwise lethal disease," said study author Priya Sunil Kishnani, MD, with Duke University in Durham, North Carolina.
The year long study involved 18 children under the age of six months with rapidly progressing Pompe disease. Pompe disease is caused by a deficiency in the enzyme acid a-glucosidase (GAA), which is needed to break down glycogen, a complex sugar molecule which releases glucose.
The study found all 18 children who started to receive the enzyme replacement, recombinant human GAA (rhGAA), before they were six months old survived to at least 18 months of age. Fifteen of the 18 children also did not need a ventilator. The study showed that starting rhGAA before the age of six months reduced the risk of death in children by 99 percent, reduced the risk of death or invasive breathing assistance by 92 percent, and reduced the risk of death or any type of ventilation by 88 percent, compared to past patients without this treatment.
"This form of enzyme replacement therapy markedly extended survival and improved respiratory performance in these children, with a majority of them showing normal growth and substantial gains in motor development," said Kishnani. "rhGAA is safe and the only effective treatment for Pompe disease; it is life saving."
Kishnani said the young age at which the children began treatment may have contributed to their improved response compared to previous trials with rhGAA, where patients were older.
"This study demonstrates that starting enzyme replacement therapy early, which could be facilitated by newborn screening, shows great promise to reduce the mortality and disability of babies with this devastating disorder," said Kishnani.
The most common side effects of the rhGAA treatment included skin reactions such as rash and hives, fever, and changes in heart rate. The study was supported by the Genzyme Corporation, maker of rhGAA.
Source: American Academy of Neurology
Related stories:
The first autism disease genes
The autistic disorder was first described, more than sixty years ago, by Dr. Leo Kanner of the Johns Hopkins Hospital (USA), who created the new label 'early infantile autism'. At the same time an Austrian scientist, Dr. Hans Asperger, described a milder form of the disorder that became known as Asperger Syndrome, characterised by higher cognitive abilities and more normal language function. Today, both disorders are classified in the continuum of 'Pervasive Developmental Disorders' (PDD), more often referred to as Autism Spectrum Disorders (ASD).
Gene produces hormones that lead to obesity
(PhysOrg.com) -- Obesity and common weight gain share a genetic basis. Professor Philippe Froguel, from Imperial College in Great Britain, and his team from the laboratoire Génomique et physiologie moléculaire des maladies métaboliques (CNRS/ Université Lille 2 / Institut Pasteur de Lille), in collaboration with teams from Inserm and Danish, Swiss and German partners, have discovered a new obesity gene that plays an essential role in the maturation of several key hormones that control food intake.
Novel approach may protect against heart attack injury
Researchers at The Children's Hospital of Philadelphia have manipulated cell activity that occurs during the interruption of blood flow to strongly protect heart tissue in animal studies. The finding has the potential to become an emergency treatment for heart attack patients, particularly since already existing drugs might be pressed into service to produce the protective effects.
Common mutations linked to common obesity in Europeans
Scientists have discovered two common genetic mutations in people of European ancestry, which affect the production of several hormones controlling our appetite. The mutations have a significant effect on the risk of common obesity, according to research published today in
Nature Genetics.
New technology enhances therapeutic potential of cord blood stem cells
A CD26 Inhibitor increases the efficiency and responsiveness of umbilical cord blood for bone marrow transplants and may improve care for blood cancer patients according to research from Rush University Medical Center being presented at the 6th Annual International Umbilical Cord Blood Transplantation Symposium, June 6-7 in Los Angeles.
Potential therapy discovered for hypophosphatasia, a congenital form of rickets
Researchers at the Burnham Institute for Medical Research, led by José Luis Millán, Ph.D., have demonstrated in mice the first successful use of enzyme replacement therapy to prevent hypophosphatasia (HPP), a primary skeletal disease of genetic origin. This discovery lays the foundation for future clinical trials for HPP patients.
Common bacteria activating natural killer T cells may cause autoimmune liver disease
A bacteria commonly found in soil and water triggered autoimmune symptoms in mice similar to those found in an incurable liver disease called Primary Biliary Cirrhosis (PBC). Reporting their findings in the May 15
Cell Host & Microbe, the multi-institutional research team said injecting laboratory mice with the bacterium – Novosphingobium aromaticivorans – prompted activation of Natural Killer T (NKT) cells, which were critical to initiating autoimmune processes that led to liver disease.
In blood vessel stents, innovative materials allow better control, delivery of gene therapy
Before gene therapy becomes practical for treating human diseases, researchers must master the details of safe and effective delivery. Cardiology researchers at The Children’s Hospital of Philadelphia have advanced delivery techniques by creating a versatile synthetic material that can bind to a variety of gene therapy vectors and can be custom-designed for controlled local release of therapeutic genes at a disease site.