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, the scientific journal of the American Academy 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.
Scientists enlist engineered protein to battle the MERS virus
22.05.2017 | University of Toronto
Insight into enzyme's 3-D structure could cut biofuel costs
19.05.2017 | DOE/Los Alamos National Laboratory
Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.
Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...
An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...
In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.
In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...
Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...
For the first time, scientists have succeeded in studying the strength of hydrogen bonds in a single molecule using an atomic force microscope. Researchers from the University of Basel’s Swiss Nanoscience Institute network have reported the results in the journal Science Advances.
Hydrogen is the most common element in the universe and is an integral part of almost all organic compounds. Molecules and sections of macromolecules are...
22.05.2017 | Event News
17.05.2017 | Event News
16.05.2017 | Event News
22.05.2017 | Materials Sciences
22.05.2017 | Life Sciences
22.05.2017 | Physics and Astronomy