What is the treatment and prognosis of Acid maltase deficiency?

April 21 22:58 2019 Print This Article

There are certain cardiac and respiratory problems which are treated according to the symptoms. There is a physical and occupational therapy which is very beneficial. The temporary improvement occurs due to the changes in diet. It does not have impact on the course of disease. There is a genetic counseling which helps the families in providing the information related to the risk in pregnancies. In the year 2006, Food and Drug Administration approved a biologics license application known as BLA. It was approved for the myozyme which helped in the treatment of Pompe disease. It was developed by Dr. Y.T Chen at the Duke University.

The FDA orphan drug contains the myozyme and is approved by a priority review. The myozyme is made by Genzyme corp. in Cambridge. The myozyme was approved by the FDA so that it can be administer intra venously into the vein. In the two different clinical trials the safety and efficacy of myozyme was assessed. It was done in the 39 infantile onset patients of this disorder. The infants ranged from 1 month to 3.5 years at the time of first infusion. Its cost is around 300,000 dollar annually and must be taken throughout the life time. There are very few insurers who support this.

In the year 2006, Health Canada has approved the use of myozyme in the treatment of this disorder. In the year 2007, the Canadian Common Drug Review made some changes related to the public funding for myozyme therapy. It included the use of money to treat few patients suffering from this disorder. It includes the infants which are less than 1 year of age and have cardio myopathy. Most of the developed countries are providing access to this therapy for all the patients.

In the year 2007, the Zystor therapeutics develops an enzyme replacement therapy for this disorder. It was done by the glycosylation of independent lysosomal targeting technology known as GILT. The prognosis of this disorder varies according to the symptoms and onset. If this condition is not treated it may lead to the death of infants and young children. The glucose is broken down by the myozyme and is also used to replace the missing enzyme. The myozyme is a combined form of human enzyme acid alpha glucosidase.

A study was done which included the cohort of patients with this disorder and were treated with the enzyme replacement therapy known as ERT. It showed that the myozyme treatment increases the ventilator free survival in the patients with infantile onset disorder as compared to the untreated control population. The study also revealed that the initiation of ERT prior to 6 months of age helps in the new born screening. It gives a good idea about the reduction in mortality and disability associated with this disorder. In the year 2007, another study was conducted which was known as the LOTS that means Late Onset Treatment Study.

The Genzyme released its initial results. The safety and efficacy of the myozyme was evaluated. It was done in the juvenile as well as adult patients who were suffering from this disorder. The LOTS was a randomized and a double blind placebo controlled study. It enrolled around 100 patients at the eight primary stages. It occurred in the United States and Europe. The participants receive the myozyme or a placebo each week for one and a half year. The average age of the participant is nearly 45 years. The primary efficacy of the study helps in the determination of the effect of myozyme on the functional endurance. It is measured by the 6 minute walk test and helps to determine the effect of myozyme on the pulmonary function. It is also measured by the percent predicted forced vital capacity.

The results revealed that the patients which were treated with the myozyme increase their walking distance by an average of 30 meters. The time was same of around 6 minutes. It was compared with the placebo group. The placebo group hardly shows any improvement from the baseline. The average distance walked in the 6 minutes by both of the groups was same. The percent predicted forced vital capacity of the patients treated with the myozyme increased by 1 percent in one and a half year. However, it decreased by 3 percent in the placebo group. The baseline predicted forced vital capacity in both the groups was almost the same. The results for both the efficacy endpoints were similar at multiple defined sub groups.

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