Amicus Therapeutics: New Insights into the Treatment of Fabry Disease

Fabry disease is a relatively rare genetic lysosomal storage disease that currently affects as many as one in every 117,000 people in the general population. Although it is rare, the side effects for those afflicted with Fabry disease can be severe and begin at an early age. Limited treatment options are available for patients suffering from Fabry disease, resulting in few options for the control of life-altering symptoms that affect many aspects of daily living. Amicus Therapeutics has recently announced their plans to submit an application to the Food and Drug Administration to get approval for a new medication designed to treat the devastating effects of Fabry disease.


What is Migalastat?


Using existing data from several clinical trials studying the effects of Migalastat in the control of symptoms associated with Fabry disease, Amicus Therapeutics plans to submit a new drug application to the FDA. Thousands of Americans are currently affected by Fabry disease and the resultant side effects that can impact daily life. The possibility of a new medication to treat these bothersome side effects is exciting news for those suffering from this rare disease, as treatment options up to this point have been quite limited. Migalastat is an oral medication specifically designed to successfully treat Fabry disease and its side effects in patients that have specific genetic mutations.

How does Migalastat work?


Migalastat is an oral medication designed to treat Fabry disease in patients that have a common genetic mutation linked to this illness. This genetic mutation allows for the excessive production of a specific enzyme within these patients that worsens their illness. Migalastat is designed to stabilize the patient’s production of this enzyme, allowing for effective treatment of the disease and a reduction in associated side effects.


Migalastat will be useful for patients with what is considered an amenable genetic mutation. Amenable genetic mutations are those that receptive to treatment variables including treatment with Migalastat. Researchers estimate that as many as 50% of those suffering from Fabry disease may have these types of amenable mutations, making Migalastat a promising treatment option for many patients. Initial studies and clinical trials for this drug have already shown promising results and gained interest for its approval in countries such as Switzerland, Japan, and Australia. It is hoped that its approval within the United States can serve to benefit the estimated 3,000 Americans currently affected by Fabry disease.


Safety Information Regarding Migalastat


As with any prescription medication, treatment with Migalastat should always be performed under the care of a qualified physician. Supervision by medical professionals who are experienced in the treatment of Fabry disease is always recommended. The following are a few of the special considerations associated with Migalastat, also called Galafold.


* Migalastat should not be combined with enzyme replacement therapies due to the way the drug affects the patient’s enzyme production.

* Migalastat is not currently recommended for use in patients with existing kidney disease.

* The effectiveness of Migalastat in children from infancy through the age of 15 years has not yet been evaluated.

* Use of Migalastat in pregnant women has not been studied. Doctor’s should carefully weigh the benefits involved for a pregnant patient on a case by case basis.

* The elderly population or those with liver issues do not need dosage adjustments.

* Effective birth control methods should be used while taking Migalastat.

* Consideration should be given to the idea of monitoring each patient’s kidney and heart functioning periodically while taking Migalastat.

* A review of the side effects that are possible should be discussed with each patient. The most common side effect experienced during clinical trials was headaches.

The trade name for Migalastat is Galafold. Galafold is the first medication approved as a monotherapy by the European Union for the treatment of Fabry disease. It is the first drug of its kind designed to clear disease substrates in patients who have specific genetic mutations that cause them to create and store abnormal amounts of a related enzyme within their body.


More about Fabry Disease


Fabry disease is a genetic lysosomal storage condition that is quite rare. It results in a wide range of full-body symptoms, some of which can be quite severe and impact daily life for the patient. Fabry disease is a form of sphingolipidosis and involves abnormal storage and metabolism of specific sphingolipids within the body.


Symptoms associated with Fabry disease are broad, and many are systemic in nature. The following is a list of some of the most common associated symptoms.

* Pain

Both limited and full body pain is common in patients with Fabry disease. Pain in the extremities and GI tract are especially common. This is expected to result from nerve damage in these areas.

* Kidney Problems

Kidney insufficiency and kidney failure are relatively common issues in patients with Fabry disease. Late stage kidney failure typically only occurs in the third decade of life.

* Cardiovascular Problems

Fabry disease can cause glycolipids to build up in the tissues of the heart, resulting in a variety of cardiovascular complaints. High blood pressure and cardiomyopathy are common in Fabry disease patients.

* Skin Problems

The overproduction of angiokeratomas is commonly seen in Fabry disease patients. A lack of sweat production leading to overheating is also a common problem. The reverse, an overproduction of sweat, is a less common occurrence with Fabry disease patients. Clouding of the cornea of the eyes is relatively common and can result in vision problems requiring treatment.


About Amicus Therapeutics


Amicus Therapeutics is a global biotechnology company that is currently leading the way in developing scientifically advanced treatment options for a wide variety of rare diseases.


Migalastat, a personalized treatment for Fabry disease, is a leading product developed by Amicus Therapeutics (Yahoo Finance). However, the company has many treatment options in the works for the treatment of other uncommon diseases such as Epidermolysis Bullosa, Pompe disease, and much more.


Amicus Therapeutics is a company dedicated not only to the development of state-of-the-art treatments for rare diseases but also to patient advocacy. Amicus Therapeutics works hand in hand with patients, caregivers, family members, patient support groups, and other organizations to provide the deepest level of care for these individuals as possible.


Amicus Therapeutics will continue striving to bring about successful and targeted treatment options for a wide variety of diseases. They accomplish this while providing the support and camaraderie that those experiencing rare diseases need. The vision of Amicus Therapeutics goes much deeper than simply creating new therapeutic modalities. While this is an important endeavor on its own, the company also strives to provide healing that goes beyond the physical aspects of those suffering. Amicus Therapeutics currently has several new therapies in the works and will continue to provide superior and all-encompassing help to all of those affected by rare medical conditions.

More about Amicus Therapeutics on Facebook | CrunchBase