Patient Advocacy

General Disease Information

Fabry Disease: General Disease Information

Fabry disease is an inherited Lysosomal Storage Disorder (LSD) caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A). The function of alpha-Gal A is to degrade glycosphingolipids, or sugary-fat material, in lysosomes, including globotriaosylceramide (GL-3, also known as Gb3). Progressive accumulation of GL-3 is believed to lead to the morbidity and mortality of Fabry disease, including pain, kidney failure, heart disease, and stroke.

For more information, view our mechanism of disease video and download our Fabry disease awareness brochure and Fabry disease infographic.

Epidermolysis Bullosa: General Disease Information

EB is a rare genetic connective tissue disorder that typically manifests at birth or early childhood. It is chronic, debilitating and potentially disfiguring, as patients with EB typically have painful wounds and blisters affecting a substantial percentage of their bodies that can lead to infection and scarring. There are many genetic and symptomatic variations of EB, but all forms share the common symptom of fragile skin that blisters and tears from the slightest friction or trauma. There is no cure or approved therapies for EB.

For more information, download our Epidermolysis Bullosa (EB) infographic.

Pompe Disease: General Disease Information

Pompe disease is a Lysosomal Storage Disorder (LSD) that results from a deficiency in an enzyme, GAA. Signs and symptoms of Pompe disease can be severe and debilitating and include progressive muscle weakness throughout the body, particularly the heart and skeletal muscles. This leads to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease. Pompe disease ranges from a rapidly fatal infantile form with severe cardiac involvement to a more slowly progressive, late-onset form primarily affecting skeletal muscle. All forms are characterized by severe muscle weakness that worsens over time. In the early-onset form, patients are usually diagnosed shortly after birth and often experience enlargement of the heart and severe muscle weakness. In late-onset Pompe disease, symptoms may not appear until late childhood or adulthood and patients often experience progressive muscle weakness. It is estimated that Pompe disease affects approximately 5,000 to 10,000 people worldwide.

For more information, download our Pompe disease infographic.

CDKL5 Deficiency: General Disease Information

CDKL5 (cyclin-dependent kinase-like 5) is a gene on the X-chromosome encoding the CDKL5 protein that regulates the expression of several essential proteins for normal brain development. Genetic mutations in the CDKL5 gene result in CDKL5 protein deficiency and the disorder manifests clinically as persistent seizures starting in infancy, followed by severe impairment in neurological development. Most children affected by CDKL5 deficiency cannot walk or care for themselves and may also suffer from scoliosis, visual impairment, sensory issues, and gastrointestinal complications.

CDKL5 mutations have been found in children diagnosed with cerebral palsy and autism, among other conditions, and the disorder was previously classified as atypical Rett Syndrome, an early seizure variant of Rett Syndrome. There are more than 1,200 documented cases of CDKL5 deficiency worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common.1