Amicus Therapeutics: The Fight Against the Rare Diseases


In a recent written communication by FDA, it has informed Amicus Therapeutics that it may now submit an NDA for migalastat. This comes after Amicus Therapeutics Ltd and U.S. FDA held sequence discussions on the matter following Amicus Therapeutics plans to submit an NDA (New Drug Application) for migalastat, an oral precision medicine, for Fabry disease. This submission was meant to take place in the fourth quarter of 2017.

Amicus Therapeutics has prepared the New Drug Application through Subpart H ( The purpose in so doing is to accelerate its approval. The intentions of Amicus Therapeutics with the New Drug Application is to have it based on existing data, including the totality of the data in previous clinical studies and additionally reducing the disease-causing substrate( GL-3). Ongoing accumulation of the disease-causing substrate is seen to lead to the mortality and morbidity of Fabry disease including stroke, pain, heart disease and kidney failure. Before the NDA submission, the Phase 3 study requested by U.S. FDA previously is not required.

In his statement John F. Crowley, the CEO and chairperson of Amicus Therapeutics quoted that the guidance offered by FDA was a significant milestone for the many people living with Fabry disease in the United States. John further added that it was a great honor for everyone who worked so hard to foresee that migalastat is developed and he additionally felt that it is a great achievement for the team behind it. The Chief Medical Officer, Jay Barth of Amicus Therapeutics added that their clinical trial data had supported approval for migalastat in Israel, EU and Switzerland and their pending regulatory submissions in Australia, Japan, and Canada. The clinical data that supports this medicine include the two biggest pivotal studies on Fabry Disease that was done by Amicus Therapeutics. Jay Barth believes that the willingness of U.S. FDA to review their data on migalastat shows that Amicus Therapeutics is based on patient-centric therapeutic development that is data driven and science based. He further mentioned that on behalf of Amicus Therapeutics team, he believed their data package for the submission was huge and they hope that migalastat will be approved soon.

Currently, around 3000 people in the U.S are battling Fabry Disease, and Amicus Therapeutics believes that this is a good number for the development of migalastat. These people have amenable mutations, and Amicus Therapeutics believe that through their medicine development, they will influence many lives. Fabry disease is an X linked inherited disease that results from rare lysosomal storage. It is often caused by lack of an alpha galactosidase A, an enzyme, which results from mutations in the GLA gene. The symptoms of Fabry Disease begin at either an early stage or later stage and its continuous leading to organ damage. Thus, migalastat is a drug meant to treat patients with Fabry Disease, only those with amenable genetic mutations. It is prescribed in oral means. According to Amicus Therapeutics, migalastat performs through stabilizing the body’s dysfunctional enzyme.This way, it is supposed to remove accumulated disease substrate in patients with amenable mutations. It can only be administered to adults and teenagers aged 16 or above.

About Amicus Therapeutics

Amicus Therapeutics is biotechnology company, with its dealings globally. It was founded in 2002 and went public in 2007 with FOLD as its trading symbol. FOLD is under NASDAQ. It develops advanced therapies for orphan or rare diseases. They develop medicines and technologies meant to assist people with the rare diseases. Among the rare diseases, include Fabry diseases, Epidermolysis Bullosa, a genetic connective skin disorder as well as Pompe disease. Its headquarters are located in Cranbury, New Jersey in the United States.

They have developed various products, migalastat being their lead product so far, which is in its late stage development. They have another product in the late stage as well known as SD-101, which is a potential therapy for the connective genetic skin disorder, Epidermolysis Bullosa. They have a lead biologics program, for the Pompe Disease Therapy, known as ATB200/AT2221. Amicus Therapeutics seeks to combine this with a pharmacological chaperone during administration. Most of the development of this product are based on Chaperone-Advanced Replacement Therapy platform. Amicus Therapeutics further concentrates majorly on enzyme replacement therapies.

Amicus Therapeutics has been on the forefront of treating most rare genetic disorders. This company is focused on giving hope to patients with the rare diseases. Their primary objective is to meet the needs of the rare disease community. Migalastat is the first approved medicine for Fabry disease. It has been approved by EMA and awaiting approval by FDA this year. This is a significant achievement for Amicus Therapeutics. This company has three primary goals in 2017 that is the submission of J-NDA for migalastat, developing a clinical plan ATB200/AT2221 for Pompe disease and finally yet importantly completing the clinical trial, in phase 3 for Epidermolysis Bullosa.

Their program ATB200/AT221 uses a unique treatment mechanism where ATB200 is a functional recombinant alpha-glusosidase enzyme, which carries mannose-6 phosphate moieties for uptake increment. On the other hand, AT221 is a chaperone that is treated alongside ATB200 for stabilizing the compound. Amicus Therapeutics, believe that this program will make it a world leading rare disease company by 12%. The company estimates a market of $1.2 billion with this Pompe program.

Amicus Therapeutics is enriched with a large team who ensure that the technology platforms; deliver the right treatment for human genetic diseases (CrunchBase). Amicus Therapeutics majorly target the mutated proteins while developing their medicines. The company is made up of scientists who are dedicated to what they do, and it is their passion that makes it possible for the development of these programs. They believe in using biotechnology together with a passion for healing the rare diseases.
Amicus Therapeutics has shown further support for the rare disease community through collaborating with the health care practitioners, individual patients, caregivers and organizations in assisting the rare disease community. This has been achieved through the Amicus Patient and Professional Advocacy platform. They have different initiatives that have been used to show support to these individuals. These initiatives include searching for better therapies, providing educative information on the rare diseases to those living with it, listening to the individuals with this disease as well as seeking for the patient’s input before developing in therapy. Amicus Therapeutics believes in more support, care for their patients, and seek to organize events that assist them.

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