Although each disease on its own may be rare, a huge number of people are living with a rare disease-- and half of these people are children. About 30 percent of these children…
According to a story from pm360online.com, the biotechnology company Amicus Therapeutics recently announced that the first patient has received treatment in the company's Phase 3 clinical trial testing the company's…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
According to a story from Vietnam News, mother Huyen Trang has seen two of her children face death's door within mere months of being born. Her first child died at…
Late-onset Pompe disease is associated with many features, one of which is a change to the voice, which may be noticeable in speech and voice quality. To investigate how this…
According to a story from PR Newswire, a new program called The Lantern Project is working to provide a free testing program that allow doctors to more quickly diagnose patients…
According to a story from Endpoints News, the Chief Science Officer for Spark Therapeutics is close to finishing up his first year with the company. His name is Federico Mingozzi,…
Amicus Therapeutics has met with the United States Food and Drug Administration to discuss the investigational drug AT-GAA, which is being researched as a potential treatment for Pompe disease.…
According to a story from Science Trends, a recent trial of an experimental treatment demonstrates that it could be a potential treatment for Pompe disease. There are very limited treatment…
According to a story from Stat News, The US Food and Drug Administration (FDA) has recently sent a message to the pharmaceutical company Amicus Therapeutics in which they denies the…
The Malaysia Lysosomal Diseases Association (MLDA) was formed in 2011 by the hands of eight families. Their goal was to raise awareness and funds for those diagnosed with lysosomal storage…
Is there a genetic condition in your family? Are you concerned about the potential for passing this on to your children one day? Do you know if you are a…
According to The Hindu, the Institute of Child Health (ICH) in Egmore, India is soon going to be able to offer more medical options to children with lysosomal storage disorders…
Amicus Therapeutics is developing a treatment for Pompe disease through its AT-GAA program. They have recently announced that they have met with regulators from the European Union and Germany who…
Lawmakers in the U.S. state of North Carolina have expanded the state’s newborn screening testing to include three more conditions. These are Pompe disease, Mucopolysaccharidosis type 1 (MPS 1), and…
My name is Stephanie. I am Tristan's older sister and a Registered Nurse. I spend a lot of time with him as he requires nursing care around the clock. I…
It is international Pompe Day! “Together we are Strong” Today is meant to help create awareness for the Lysosomal Storage Disorder Pompe Disease, which is both rare and underdiagnosed. Pompe…
In an effort to better understand patient experiences, researchers at the Massachusetts General Hospital are surveying people with lysosomal storage diseases about how they view their treatments, reports CheckOrphan. The…
Researchers have developed a new screening test for Pompe disease that is more sensitive than other options, says a report from January. Pompe disease is a muscular disorder caused by…
A gene therapy for Pompe disease is the first treatment of its kind to be clinically tested, reports Duke University. Researchers at the University, working with NCATS Therapeutics for Rare…
An advocacy group for people with Pompe disease in New Zealand has criticised the government for failing to uphold an election pledge, reports Scoop Independent News. Candidates from all major…
According to a story from macleans.ca, after beginning to develop problems with mobility such as climbing stairs, Julie Mason of Montreal endured years of confusing tests before doctors were able…
Haley Hayes is a normal pre-teen, yet she suffers from Pompe disease. Pompe disease is a genetic condition, which causes muscle and organ impairment. Early diagnosis and enzyme replacement therapy…
Pompe disease affects roughly one person in every 40,000. One form of the disease specifically develops within the first months of birth, or early on in childhood. Now, the first…
RespireRx Pharmaceuticals announced last month it was cleared to resume its ampakine CX717 clinical trials to evaluate the drug’s efficacy in several central nervous system and respiratory disorders, including Pompe…
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