AVRO-RD-01-201 is a Phase 2, open-label, multinational clinical trial designed to evaluate the efficacy and safety of AVR-RD-01, an ex vivo, lentiviral vector-mediated gene therapy, in individuals with classic Fabry disease.
Key Eligibility Criteria
Individuals may be able to participate in this trial if they are males who are past puberty and:
The AVRO-RD-01-201 trial is being conducted around the world including at sites in Australia, Canada and the United States.
How to Participate
- Call 1 (844) 322-4363 or complete this form to speak with someone who can help you determine if you or a family member meet the eligibility requirements and for trial locations.
- Talk to your doctor and/or or a stem cell transplant specialist about the potential risks and benefits of participating in an investigational gene therapy trial.
AVR-RD-01 is an investigational, ex vivo lentiviral gene therapy being developed as a single-dose therapy with the potential to provide life-long therapeutic benefit for patients with Fabry disease. AVR-RD-01 employs a state-of-the-art lentiviral vector system that is designed to be an efficient gene transfer system with the goal of permanent integration of functional copies of the AGA transgene into an individual’s own stem cells. The safety and efficacy of AVR-RD-01 have not yet been established.
About Fabry Disease
Fabry disease is a rare, genetic disorder caused by a defect (mutation) in the GLA gene. The faulty GLA gene results in a deficiency of the enzyme, alpha-galactosidase A, more commonly referred to as α-Gal A. The lysosomal enzyme, α-Gal A, is an essential enzyme required to break down globotriaosylceramide (also known as Gb3 or GL-3). In people living with Fabry, Gb3 accumulates in various cells throughout the body, causing the progressive clinical signs and symptoms of the disease.1
Classic Fabry Symptoms2
- Red, raised lesions on the skin (angiokeratomas)
- Episodic crises of severe pain in the hands and feet (acroparesthesias)
- Alternating diarrhea and constipation
- Difficulty sweating (hypohidrosis or anhidrosis)
- Corneal opacities
As Fabry disease progresses, irreversible organ damage can result in potentially life-threatening kidney failure, cardiac disease, and early stroke.2
Fabry in Families
Fabry disease is inherited, which means that it is passed down from parents to children. If one person in the family is affected, additional family members may also be at risk.3
Fabry is passed down through an X-linked inheritance pattern.
Females inherit an X chromosome from each of their parents. Males inherit an X chromosome from their mother and a Y chromosome from their father.
Sons of affected males cannot inherit the disorder from their fathers, or said another way, there is no father-to-son transmission. All daughters of affected males will inherit the affected X chromosome. If a female is affected with Fabry disease, she has a 50/50 chance, with each pregnancy, of passing on Fabry disease to her children.4
1. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human α-galactosidase. Journal of Molecular Biology. 337(2): 319-335 (2004). 2. Germain DP. Fabry disease. Orphanet Journal of Rare Diseases. 5(30) (2010). https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-30. Accessed August 27, 2019. 3. Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. Journal of Genetic Counseling. 17(1): 79-83 (2008). 4. Genetics Home Reference. What are the different ways in which a genetic condition can be inherited? (2019). https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns. Accessed August 21, 2019.