A pharmaceutical company has announced that the drug it created to treat Fabry disease will be delayed. This doesn’t mean the drug will never make it to market. Instead, it has to pass the analysis of health regulators first. This could be disappointing news for people who have a family member that has Fabry disease.
Fabry disease is a genetically heritable disease. It is caused by a defective gene on the X-chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. A female could inherit one X chromosome that has a defective gene. However, if her other X chromosome is normal, this could prevent her from developing Fabry disease.
Fabry disease is passed on by X-linked inheritance. All children, whether they are male or female, have a 50% chance of inheriting an X chromosome that has a defective gene that causes Fabry disease from their mother. (This is, of course, assuming the mother does have an X chromosome with a defective gene).
Fathers that have an X chromosome with a defective gene will have daughters that have Fabry disease. Their sons, who receive a Y chromosome from the father who has an X chromosome with a defective gene, will not have Fabry disease.
Fabry disease results from abnormal deposits of particular fatty substances in blood vessel walls throughout the body. Those deposits are called globotriaosylcera-mide. This happens because people who have Fabry disease inherited a deficiency of an enzyme that can break down globotriaosylcera-mide. The enzyme is called glalctosidase A.
The buildup causes signs and symptoms that can effect various parts of the body. Some symptoms include: pain in hands and feet, clusters of small, dark red spots on the skin, a decreased ability to sweat, gastrointestinal problems, and more.
Amicus Therapeutics Inc. is working on a drug called migalastat. It will be the first oral treatment for patients with Fabry disease. It was tailored to treat 30% – 50% of Fabry patients who have a specific cellular mutation. The drug must be taken daily. It would replace the need for a bi-weekly infusion (which is the current treatment for Fabry disease).
Originally, the plan was for Amicus Therapeutics Inc. to be able to have migalastat on the market by the end of 2015. However, after a meeting with the Food and Drug Administration (FDA), that date was delayed. The FDA wants Amicus Theraputics Inc. to integrate data from both of their late-stage studies and to conduct further analyses first.
Overall, this means that migalasta will be delayed from being released in the United States by the end of 2015. There is still the possiblity that it will be released to the market in coming years.
Image by Zappy’s Technology Solutions on Flickr.
Related Articles at FamilyTree.com:< Return To Blog