AVROBIO has recently received the Orphan Drug designation for AVR-RD-04, a gene therapy for the treatment of cystinosis. This treatment takes the stem cells of those affected and modifies them so that they can create cystinosin, the protein that they lack. A clinical trial is currently being conducted to evaluate the effectiveness and safety of AVR-RD-04.
Cystinosis is an inherited condition that sees the accumulation of the enzyme cystine. This buildup can lead to damaged organs, kidney failure, and even death. There are three forms of this disorder: nephropathic, intermediate, and ocular. About one of every 100,000 to 200,000 people throughout the world are affected by cystinosis.
The CTNS gene is mutated in those with this condition, and it creates a problem with cystinosin, the protein used to transport the enzyme cystine. When this enzyme accumulates in the lysosomes it can cause cell death and organ damage. This gene is inherited in an autosomal recessive pattern.
People can experience a variety of symptoms, depending on the type and age of onset. Cystinosis has a major impact on the renal system, leading some to mistakenly label it as a kidney disorder. Kidney failure is a common symptom of this disorder, but other parts of the body may be damaged. The liver, central nervous system, muscles, white blood cells, and thyroid can all be affected.
Diagnoses should be quick and early in order to give patients the best treatment options. Doctors will look at one’s symptoms, family and patient history, and tests in order to provide a diagnosis. They may conduct tests to measure cystine levels in the white blood cells, urine tests, eye exams, and genetic testing.
After a diagnosis is obtained, treatment is aimed towards symptoms. Cystine depleting therapy is a treatment option as well, which is an oral medication that helps to lower crystine levels in the cells. Doctors will also treat the kidney issues depending on their severity. Dialysis and kidney transplants may be necessary.
AVR-RD-04 is a lentiviral-based gene therapy that is intended to stop or even reverse the progression of cystinosis. It takes one’s hematopoietic stem cells and transforms them so that they can create a functional version of the protein cystinosin. One dosage of this therapy has shown to be effective.
About the Clinical Trial
CTNS-RD-04 is open-label and single-arm. It will examine the safety and efficacy of the gene therapy. Six patients will participate in this study, which is being held at UCSD School of Medicine.
The Orphan Drug designation has given confidence to researchers, as well as financial incentives and seven years of market exclusivity. They hope that this trial is successful so that patients with cystinosis have a viable treatment.
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