A breakthrough revelation has been made by a collaborative study which has paved way for people reeling under the muscle-wasting disease Duchenne muscular dystrophy. The initial symptoms of the disease are seen in boys between the age of 1 and 3 eventually leading them to spend their life till thirties on wheelchair from the age of 12.
Moreover, the drug, SMT C1100, is targeted at quelling the need of a protein called utrophin instead of pricking the problem of dystrophin that’s found in muscle fibers. Apparently, doctors have been recommending steroids and growth hormones in order to manage the dithering health condition.
Apparently, the team of researchers from Oxford University and the University of Bari in Italy has asserted that a single pill instead of any complicated therapy can prove to be beneficial for people under the effect of Duchenne muscular dystrophy.
Responding to the news, Professor Dame Kay Davies of the Department of Physiology, Anatomy and Genetics at Oxford University, who led the research, claimed, “We’ve shown that the drug can dramatically reduce muscle weakness in mice. These results give us everything we need to go forward into initial clinical trials in humans”.
Meanwhile, experts from the Muscular Dystrophy Campaign and the Medical Research Council have reportedly welcomed the effort made by the team.
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Wednesday, May 25, 2011
Thursday, May 19, 2011
Gene Therapy
Scientists have succeeded in using gene therapy to restore some muscle function in patients with a certain type of muscular dystrophy.
This is the first time such a feat has been performed in humans, state the authors, who are presenting their findings at the annual meeting of the American Society of Gene & Cell Therapy in Washington, D.C.
"This study provides additional information regarding the feasibility of gene therapy for the treatment of muscular dystrophy," said Dr. Valerie Cwik, executive vice president and research and medical director of the Muscular Dystrophy Association, which helped fund the research. "Specifically, it provides proof of principle, in people, for sustained gene expression [for at least six months] following treatment."
"This study has shown that a normal gene packed into a virus and injected directly into a muscle can actually produce the protein that is either defective or missing in this particular form of muscular dystrophy," added Dr. Rabi Tawil, a professor of neurology at the University of Rochester Medical Center. "Similar studies have been done in animal models, and this is the first to show a similar result in humans."
If replicated, the findings could provide hope for people with this and other forms of muscular dystrophy.
"Reversing or significantly blunting the severity of this weakness and wasting will give these patients major improvement in their quality of life, enhance their independence, and increase the likelihood that they can obtain employment," said Dr. Richard Moxley, director of the Neuromuscular Disease Center, also at the University of Rochester Medical Center.
The patients in this study had limb-girdle muscular dystrophy (LGMD), which is characterized by muscle weakness around the hips and shoulders. The condition results from an inherited deficiency of alpha-sarcoglycan, a muscle protein.
"There is no effective therapy to prevent the progressive weakness and loss of muscle that occurs in LGMD type 2D," Moxley explained. "The disease typically begins between 2 and 15 years of age, and many patients become wheelchair-bound by their teens. They have marked weakness of their shoulder and thigh muscles, and have difficulty performing many of the activities of daily life."
"Treatments are needed urgently," stated Cwik.
A previous study of the same gene transfer procedure had been successful in three patients with levels of the protein staying elevated for at least three months after treatment.
Here, a prominent group of muscular dystrophy researchers from the Center for Gene Therapy at the Research Institute at Nationwide Children's Hospital in Columbus, Ohio, injected three LGMD patients with a healthy gene, which succeeded in increasing both gene expression and muscle fiber levels. The effect persisted for six months, the longest yet.
Next, the researchers hope to inject the gene directly into a leg artery to see if those muscles will take up and use the protein.
But several obstacles remain.
"For gene therapy to be clinically beneficial -- meaning an improvement in strength -- multiple muscle groups will need to be treated simultaneously," Cwik said. "To do this will require regional [to an entire limb] or systemic delivery [to the entire body, such as intravenously]."
"This technique delivers the gene directly into the muscle through a needle. It is not practical to do this on large muscles, let alone several muscles, as it would require hundreds of injections," Tawil added. "To make this treatment viable, a system has to be devised where the virus-plus-normal gene can be injected into the circulation and have it deposited into all the muscles. The other obstacle is making sure that injecting the virus containing the normal gene does not induce the immune system to attack the virus."
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
This is the first time such a feat has been performed in humans, state the authors, who are presenting their findings at the annual meeting of the American Society of Gene & Cell Therapy in Washington, D.C.
"This study provides additional information regarding the feasibility of gene therapy for the treatment of muscular dystrophy," said Dr. Valerie Cwik, executive vice president and research and medical director of the Muscular Dystrophy Association, which helped fund the research. "Specifically, it provides proof of principle, in people, for sustained gene expression [for at least six months] following treatment."
"This study has shown that a normal gene packed into a virus and injected directly into a muscle can actually produce the protein that is either defective or missing in this particular form of muscular dystrophy," added Dr. Rabi Tawil, a professor of neurology at the University of Rochester Medical Center. "Similar studies have been done in animal models, and this is the first to show a similar result in humans."
If replicated, the findings could provide hope for people with this and other forms of muscular dystrophy.
"Reversing or significantly blunting the severity of this weakness and wasting will give these patients major improvement in their quality of life, enhance their independence, and increase the likelihood that they can obtain employment," said Dr. Richard Moxley, director of the Neuromuscular Disease Center, also at the University of Rochester Medical Center.
The patients in this study had limb-girdle muscular dystrophy (LGMD), which is characterized by muscle weakness around the hips and shoulders. The condition results from an inherited deficiency of alpha-sarcoglycan, a muscle protein.
"There is no effective therapy to prevent the progressive weakness and loss of muscle that occurs in LGMD type 2D," Moxley explained. "The disease typically begins between 2 and 15 years of age, and many patients become wheelchair-bound by their teens. They have marked weakness of their shoulder and thigh muscles, and have difficulty performing many of the activities of daily life."
"Treatments are needed urgently," stated Cwik.
A previous study of the same gene transfer procedure had been successful in three patients with levels of the protein staying elevated for at least three months after treatment.
Here, a prominent group of muscular dystrophy researchers from the Center for Gene Therapy at the Research Institute at Nationwide Children's Hospital in Columbus, Ohio, injected three LGMD patients with a healthy gene, which succeeded in increasing both gene expression and muscle fiber levels. The effect persisted for six months, the longest yet.
Next, the researchers hope to inject the gene directly into a leg artery to see if those muscles will take up and use the protein.
But several obstacles remain.
"For gene therapy to be clinically beneficial -- meaning an improvement in strength -- multiple muscle groups will need to be treated simultaneously," Cwik said. "To do this will require regional [to an entire limb] or systemic delivery [to the entire body, such as intravenously]."
"This technique delivers the gene directly into the muscle through a needle. It is not practical to do this on large muscles, let alone several muscles, as it would require hundreds of injections," Tawil added. "To make this treatment viable, a system has to be devised where the virus-plus-normal gene can be injected into the circulation and have it deposited into all the muscles. The other obstacle is making sure that injecting the virus containing the normal gene does not induce the immune system to attack the virus."
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
Thursday, May 12, 2011
Muscular Dystrophy by Race
White Americans with muscular dystrophy live longer than blacks with the disease, but the reason why remains unclear, says a new study.
Death at an early age from respiratory or heart failure is common among people with muscular dystrophy, a group of inherited diseases that weaken muscles.
In this study, researchers looked at 18,315 muscular dystrophy patients who died between 1986 and 2005, a period marked by advances in the care of people with muscular dystrophy.
During that time, the average age at death increased by 1.09 years annually for white men, compared to 0.25 years for black men. Among men who had no muscular dystrophy-related weakening of the heart (cardiomyopathy), the average age at death increased by 1.3 years annually for white men, compared to 0.3 years for black men.
The study also found that white women with muscular dystrophy live an average of 12 years longer than black women with the disease.
The findings appear in the Sept. 14 issue of the journal Neurology.
"More research is needed to determine the causes of this difference between whites and African-Americans with muscular dystrophy so it can be addressed," study author Aileen Kenneson, who conducted the research while at the U.S. Centers for Disease Control and Prevention, said in a journal news release.
"Possible contributing factors could be differences in the types of muscular dystrophy, environmental or genetic factors, other health conditions such as high blood pressure, individual social and economic factors or access to and use of treatment options," she said.
In an accompanying editorial, Dr. Nicte Mejia of Massachusetts General Hospital offered another opinion. "Inequities in the health care delivery system and the multiple ways in which race constrains access to care seem the most likely explanation for this racial disparity," Mejia wrote. "Decades of research show that African-American patients have worse access to health care and inferior outcomes than white patients. This study reminds us that we must work to minimize social barriers and provide excellent care to all patients."
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
Death at an early age from respiratory or heart failure is common among people with muscular dystrophy, a group of inherited diseases that weaken muscles.
In this study, researchers looked at 18,315 muscular dystrophy patients who died between 1986 and 2005, a period marked by advances in the care of people with muscular dystrophy.
During that time, the average age at death increased by 1.09 years annually for white men, compared to 0.25 years for black men. Among men who had no muscular dystrophy-related weakening of the heart (cardiomyopathy), the average age at death increased by 1.3 years annually for white men, compared to 0.3 years for black men.
The study also found that white women with muscular dystrophy live an average of 12 years longer than black women with the disease.
The findings appear in the Sept. 14 issue of the journal Neurology.
"More research is needed to determine the causes of this difference between whites and African-Americans with muscular dystrophy so it can be addressed," study author Aileen Kenneson, who conducted the research while at the U.S. Centers for Disease Control and Prevention, said in a journal news release.
"Possible contributing factors could be differences in the types of muscular dystrophy, environmental or genetic factors, other health conditions such as high blood pressure, individual social and economic factors or access to and use of treatment options," she said.
In an accompanying editorial, Dr. Nicte Mejia of Massachusetts General Hospital offered another opinion. "Inequities in the health care delivery system and the multiple ways in which race constrains access to care seem the most likely explanation for this racial disparity," Mejia wrote. "Decades of research show that African-American patients have worse access to health care and inferior outcomes than white patients. This study reminds us that we must work to minimize social barriers and provide excellent care to all patients."
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
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