14th ICIEM Conferences: Data to be Presented on Fabry Disease and Gaucher Disease Trials

From November 21st until the 23rd, medical professionals and others involved in the metabolic field will come together for the 14th International Congress of Inborn Errors of Metabolism (ICIEM). It will be held in Sydney, Australia.

At the conference, AVROBIO plans to present data on its clinical trials for Gaucher disease and Fabry disease, two rare genetic disorders.

14th ICIEM

The ICIEM was created to bring together people from the metabolic team. Knowledge, innovation, and information are shared in an effort to help those with inborn errors of metabolism.

AVROBIO plans to present data on its pipeline of lysosomal disorder programs, which includes safety data from clinical trials investigating gene therapies for Gaucher disease and Fabry disease. This information will be presented across one oral presentation and two poster presentations.

The presentations are:

  • Clinical data trends from Phase 1 and Phase 2 studies for AVR-RD-01, an investigational lentiviral gene therapy for Fabry disease
    • This is the oral presentation
  • The Guard1 clinical trial: A first in-human, open-label, multinational Phase 1/2 study of AVR-RD-02 ex vivo lentiviral vector, autologous gene therapy for Gaucher disease
  • Long-term outcomes of brain-targeted stem cell gene therapy for Mucopolysaccharidosis type II in a pre-clinical MPSII mouse model

AVROBIO also plans to sponsor a symposium, titled “Advancing the patient experience during ex vivo lentiviral gene therapy for lysosomal disorders.” Experts from the field will come together to discuss lentiviral gene therapy and how to use it to help manage the patient experience.

About Gaucher Disease

Gaucher disease is a lysosomal storage disorder. The enzyme beta-glucocerebrosidase has extremely low or no activity, and it leads to the accumulation of a lipid called glucocerebroside. This buildup causes damage to the tissue and organs. The GBA gene is mutated in those who have this disease, and it is responsible for the production of beta-glucocerebrosidase. It is passed down in an autosomal recessive pattern, meaning a child must inherit the mutated version of the gene from both parents. The incidence of the general population is one of every 60,000 people, but it is more common within the Ashkenazi Jewish population.

Gaucher disease comes in multiple different types, which vary in symptoms and severity. Type I is characterized by an enlarged liver or spleen, anemia, easy bruising, and various bone issues like pain, fracturing, and arthritis. Lung disease is a less common symptom of this type. Types II and III affect the central nervous system (CNS), and they present all of the symptoms of type I. Along with these effects, those with types II and III may also experience unusual eye movements, seizures, and brain damage. Type II is the most severe of the three, as it progresses rapidly and is fatal. While many symptoms are present in all types, it is important to remember that different individuals present various symptoms with differing severity.

About Fabry Disease

Fabry disease is a lysosomal storage disorder that occurs when globotriaosylceramide, a type of fat, builds up in the cells. It typically affects males. This accumulation can affect multiple organs throughout the body, but typically affects the kidneys and heart. As the buildup usually begins in childhood, symptoms will worsen as one ages. These symptoms include pain in the hands and feet, dull and cloudy vision, the inability to sweat, clusters of red spots on the skin, tinnitus, loss of hearing, and gastrointestinal issues. Heart attacks, strokes, and acute kidney damage may be complications. This disease is usually diagnosed after birth, as it is picked up in newborn screening exams. Treatments are symptomatic.

Read more about the conference here.

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