Amicus Therapeutics Seeks FDA Approval for Drug to Treat Fabry Disease


Amicus Therapeutics is a biopharmaceutical company based in New Jersey that puts an extraordinary amount of focus on developing advanced treatments for rare diseases and disorders. Amicus Therapeutics specializes particularly in liposomal storage diseases, such as Fabry disease.


Among the many treatment options created by Amicus Therapeutics over the past few years has been several advancements in enzyme replacement therapies that target specific rare diseases and their effects. In recent months, Amicus Therapeutics has announced that they are currently in the process of seeking FDA approval for a new drug called Migalastat. This medication is designed to effectively treat patients all over the United States who suffer from Fabry disease, a very rare variation of liposomal storage disorders.


Amicus Therapeutics Seeks FDA Approval of Migalastat


Migalastat, also known as Galafold, is a new medication therapy designed for those who suffer from Fabry disease. More specifically, Fabry disease patients with what are considered amenable genetic mutations are the target audience for this new drug therapy. The European Commission has already granted approval for the use of Migalastat in the treatment of Fabry disease patients over 16 years of age. The medication has already been successfully approved in Switzerland and Israel. Approval applications are still being reviewed in an attempt to get the drug therapy approved in Australia, Canada, and Japan. As a means to provide additional information to interested parties, Amicus Therapeutics hosted a conference call relating to specific details about this drug back in July. Potential investors and other interested parties can still access the information covered in this call on the corporate website for Amicus Therapeutics.


Additional Information Regarding Fabry Disease


Fabry disease is a very rare form of a liposomal storage disorder that is inherited genetically. As a form of sphingolipidoses, Fabry disease is believed to be caused by the improper metabolism of specific sphingolipids in the sufferer. The disease is named after the individual who discovered it, Johannes Fabry (YahooNews). Fabry disease results in a wide range of very troublesome systemic symptoms that usually manifest very early in the sufferer’s life since the individual is born with the disease.


Symptoms Associated with Fabry Disease


Symptoms of Fabry disease can be alarming since they can affect so many different systems of the body. The fact that the disease is so rare often only adds to the confusion since many doctors have never officially been presented with a case of Fabry disease. Some of the main symptoms associated with the illness are covered below.


* Pain


Pain is one of the most common features of Fabry disease. The pain experienced by sufferers can affect just the extremities, or it can be widespread throughout the body. Pain is believed to result from nerve dysfunction resulting from the disease. Pain in the gastrointestinal system is also common, but it typically results from an excess accumulation of lipids in the digestive tract.


* Kidney Dysfunction


Reduced kidney functioning and eventual kidney failure requiring dialysis are also common features of Fabry disease. Physicians will periodically check for the presence of protein in the urine of Fabry disease patients to determine if kidney dysfunction is occurring.


* Heart Problems


When various types of lipids build up in the heart and surrounding tissues, cardiovascular symptoms can manifest. High blood pressure, irregular heartbeat, and other similar symptoms are common.


* Skin Problems


One of the most common skin manifestations of Fabry disease is the development of angiokeratomas. These are small, red, and painless papules that can appear all over the body. A lack of sweating or too much sweating due to a malfunction of the sweat glands can also occur. Finally, various forms of neuropathy or Raynaud’s disease are also fairly common features of Fabry disease.


* Other Common Issues


Full body fatigue, nerve pain, ringing in the ears, and dizziness are also fairly common for patients with Fabry disease. Chemical imbalances can also lead to a variety of physical symptoms.


How Does Migalastat Help Treat Fabry Disease


Migalastat, also known as Galafold, is an oral monotherapy drug designed for use in Fabry disease patients who have been determined to have amenable genetic mutations that make the treatment more likely to be effective. Fabry disease patients have a dysfunctional metabolism of a particular substrate that then accumulates in their body leading to troublesome symptoms. Migalastat helps to stabilize the production and metabolism of this disease substrate, allowing the patient to effectively assimilate it. With the help of the medication, the patient can clear excess amounts of the disease substrate from their body more effectively, reducing related symptoms.

What are Amenable Genetic Mutations?


Over 800 known genetic mutations associated with Fabry disease have been identified by researchers who study the illness. Out of these 800 mutations, over 330 of them have been found to be receptive to the use of Migalastat. This means that anywhere from 30 percent to 50 percent of Fabry disease patients could benefit from treatment using Migalastat.


Safety Information Regarding Migalastat Use


Treatment with Migalastat should always be medically supervised, preferably by a physician who has experience in assisting patients with this rare condition. The following safety considerations should be taken into account when considering Migalastat as a possible treatment option.


* Migalastat cannot be combined with enzyme replacement therapy.

* Migalastat is not recommended for children aged 0 to 15 years or for those with existing kidney disease.

* Migalastat has not been carefully studied in pregnant women, so caution should be exercised if considering treating a pregnant woman with this drug.

* Pregnancy during the course of treatment is not recommended. Therefore, effective birth control should be used by female patients capable of becoming pregnant.

* Adverse reactions with Migalastat are usually self-limiting. The most commonly experienced adverse reaction during testing of the drug was headaches.


More Information on Amicus Therapeutics


Amicus Therapeutics is an advanced biotechnology company that combines the latest in scientific advancements in the treatment of rare diseases with the passionate and personalized care of a team of professionals who really want to make a difference.


Amicus Therapeutics is so much more than a drug company. With a huge passion for patient advocacy, Amicus Therapeutics helps bridge the gap that can exist between patients, caregivers, and medical professionals. Amicus Therapeutics understands how isolating it can be to have a rare medical condition. This is why they put so much energy and focus into creating an effort of teamwork that combines all aspects of patient care.


Amicus Therapeutics prides themselves on reaching the following goals in relation to patient management:

* Truly listening to patients and learning from their experiences with the disease

* Relentlessly searching for new and improved treatment options

* Getting patient input and using it to improve future therapies

* Providing useful resources for patients, caregivers, and the community overall


Amicus Therapeutics believes that there is hope for all patients faced with rare diseases. The team of professionals behind Amicus Therapeutics continues to utilize advancements in technology to provide personalized care of the highest quality for patients everywhere affected by rare diseases. By using innovation, compassionate care, and technological advancements, Amicus Therapeutics continues to remain at the forefront of paving the way for the future treatment of rare disorders.

More about Amicus Therapeutics at


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