Katelynn, Age 10
Living with CDKL5 Deficiency Disorder (CDD)
Programs & Pipeline
To Our Patient Community Partners:
First and foremost, your safety and welfare and that of your families always has been and continues to be our number one priority. This is especially true in view of the global COVID-19 outbreak. Amicus remains committed to open and frequent communications to address any questions. We are in this fight together. We will maintain consistent monitoring of this unprecedented situation, provide updates of any changes and remain available to you.
Given current information, we have a high degree of confidence that all Amicus-sponsored clinical studies across all programs are continuing as planned, and that supply of Galafold® will continue uninterrupted.
Resources:
Clinical study participants and their family members can bring specific questions to their respective study site staff, as well as to Amicus Patient & Professional Advocacy at patientadvocacy@amicusrx.com or 1-866-9-AMICUS (926-4287) toll-free in the US and Canada or +1.609-662.2000. For more information, visit the links by disease community below.
For those prescribed Galafold® in the US, you can call Amicus assist toll free at 1-833-AMICUS-A (1-833-264-2872), or reach out to your healthcare provider.
Our Programs
Fabry Disease
Fabry disease is a rare, progressive genetic disorder characterized by a defective gene (GLA) that causes an enzyme deficiency. This enzyme is responsible for breaking down disease substrate that, when deficient in patients with Fabry disease, builds up in the kidneys, one of the organ systems impacted by Fabry disease.
❯ COVID-19 Frequently Asked Questions
❯ Disease Overview
❯ Clinical Trials
❯ Preclinical Gene Therapy Program
Pompe Disease
Pompe disease is an inherited Lysosomal Disorder (LD) caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced or absent levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues.
❯ COVID-19 Frequently Asked Questions
❯ COVID-19 Message for the Pompe Community
❯ Disease Overview
❯ AT-GAA
❯ Clinical Trials
❯ Preclinical Gene Therapy Program
Batten Disease
Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules.
❯ COVID-19 Frequently Asked Questions
❯ Disease Overview
❯ Clinical Trials
❯ Preclinical Gene Therapy Program
Preclinical Programs
In addition to our clinical programs, a number of preclinical gene therapy programs are currently underway as we further expand our pipeline.
Our Pipeline
Our Science and Technology
Science that’s powered by passion
We are leveraging our innovative technology platforms to develop treatments for human genetic diseases. The scientists researching these methods are dedicated to finding enhanced treatments for patients suffering from these rare diseases. Their passion fuels progress as we work to deliver meaningful benefits. We are proud to take this bold approach towards these developments, in the hope of offering healing beyond disease. ❯ Clinical Trials ❯ Platform Technologies ❯ Publications & Posters ❯ Journal Articles
Rare Stories
Be inspired by people living with rare disease across the globe.