Amicus Therapeutics: New Hope on the Horizon for Fabry Disease Patients

Amicus Therapeutics: New Hope on the Horizon for Fabry Disease Patients

October 6, 2017 0 By Stephen Callahan

Amicus Therapeutics recently announced that they are seeking FDA approval for a new drug therapy designed to provide effective treatment for the rare condition called Fabry disease. What is Fabry disease and what does this rare condition entail? How does this new medication help control bothersome symptoms associated with Fabry disease? What is Amicus Therapeutics and what do they specialize in? The following information has been designed to answer these important questions.


Fabry Disease Facts


Fabry disease is a very rare genetic condition present from birth in those affected. It is considered a lysosomal storage disease and can result in a wide array of full body symptoms ( The mechanism involved in Fabry disease is a faulty metabolism of a specific type of lipids found in the body. This either leads to an overproduction of these lipids or an inability of the body to effectively clear excess amounts of them that accumulate over time, leading to sometimes severe symptoms.

Symptoms associated with Fabry Disease


Since Fabry disease is present from birth, symptoms will normally appear in early childhood. Due to the exceptional rarity of this condition, symptoms can be mistaken for other more common illnesses. This leads to a delayed diagnosis and a prolonged period of suffering without appropriate medical treatment. Signs of Fabry disease can include the following.

* Pain

Full body or localized pain is common in patients with Fabry disease. Gastrointestinal pain can also result from an accumulation of stored lipids in the GI tract.

* Kidney Disease

Kidney complications are also common in Fabry disease patients, and these issues can eventually lead to end-stage kidney failure. This is a common Fabry disease feature to occur in the patient’s third decade of life.

* Heart Problems

Cardiomyopathy and high blood pressure are quite common complications with Fabry disease. These problems result from an over-accumulation of stored lipids around the heart.

* Skin Conditions

Minor skin conditions such as angiokeratomas, Raynaud’s disease, and issues involving the sweat glands can also occur.


Amicus Therapeutics Seeks Approval for Migalastat


For those affected by Fabry disease, there simply aren’t enough treatment options on the market that provide effective relief. Migalastat is a precision oral medication designed by Amicus Therapeutics to effectively fight Fabry disease repercussions. Amicus Therapeutics is seeking FDA approval for this drug, having already had success getting the medication approved in other countries. The European Commission, Switzerland, and Israel have already given this medication the green light. Amicus Therapeutics is now attempting to seek approval in the United States, Canada, Australia, and Japan.

How Migalastat Works to Fight Fabry Disease


Migalastat is a monotherapy oral medication designed to treat Fabry disease patients that have amenable mutations. Migalastat is designed to work by preventing the overproduction of lipids within the patients. It also helps the patient to effectively get rid of excess accumulations of these lipids. Amenable mutations are those that respond favorably to treatment during clinical trials and other phases of the drug testing process. Out of over 800 known mutations, it has been estimated that over 330 of them are amenable to treatment with Migalastat. This number could potentially be far too low, and subsequent studies indicate as many as half of Fabry disease patients could experience drastic benefits from Migalastat treatment.


Contraindications for Migalastat


Due to the way the drug works, Migalastat cannot be combined with enzyme replacement therapy. It is not recommended for patients who are already experiencing renal disease and has not been studied in children or pregnant women. Pregnancy during the course of treatment should be avoided, so women of reproductive years should be on an appropriate form of birth control while taking this medication.


Kidney and heart functioning, as well as blood markers, should be periodically tested and monitored through the course of treatment with Migalastat. It is preferable that these steps should be taken every six months. Adverse reactions associated with Migalastat were relatively minor, with the most common being headaches.


What is Amicus Therapeutics?


Amicus Therapeutics is a globally recognized biotechnology company focused on discovering and providing effective treatment protocols for rare conditions such as Fabry disease, Epidermolysis Bullosa, and many other orphan illnesses. The advent of genetic testing has paved the way for companies such as Amicus Therapeutics to use detailed data compiled from patient DNA to develop effective treatments for conditions that are so rare that most doctors have never seen an official case during their career.


Being diagnosed with a rare medical condition is an isolating and traumatizing event. Patients are sometimes left feeling that they have no support from their medical treatment team or their well-meaning loved ones and the community at large. Amicus Therapeutics believes in fighting rare diseases through treatment advances, first and foremost. However, they also recognize the need to provide emotional support to patients dealing with these types of conditions. Therefore, Amicus Therapeutics puts a great deal of effort into providing top-notch patient advocacy programs to provide empowerment to patients and their family members.


Amicus Therapeutics combines science and technology with the compassion they’ve found for sufferers of rare diseases in order to provide one source of all-encompassing medical care for these individuals. As leaders in the biotechnology field, Amicus Therapeutics helped design a promising new drug therapy for the treatment of Fabry disease. This medication, known as Migalastat, has been proven effective in controlling Fabry disease-related symptoms.


As the notion of personalized medicine based on genetic information obtained from patients continues to grow, companies such as Amicus Therapeutics offer promising insight into the wealth of knowledge that can be obtained from genetic research. Believing that the powerful combination of modern technology, as a passion for helping those affected by rare illnesses, and an effective support system for all involved is what has kept Amicus Therapeutics on the forefront of this exciting wave of developments.


Amicus Therapeutics continues to stand up as a united front against the devastation that can come from a rare disease diagnosis and they look forward to the additional drug therapies that will continue moving down the pipeline in the coming years. Together with other dedicated medical professionals, Amicus Therapeutics is sure to continue making a big difference in the lives of those affected by orphan diseases and their loved ones.

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