Dosing Complete in Phase 1/2 Cystinosis Study


According to a late October 2022 news release from gene therapy company AVROBIO, the sixth patient has been dosed in a Phase 1/2 clinical study evaluating AVR-RD-04 for patients with cystinosis. The sixth patient being dosed means that dosing is complete for this trial. This is particularly exciting given that this trial is the first to investigate a gene therapy for cystinosis.

A prior investor release from AVROBIO describes AVR-RD-04 as:

an investigational, lentiviral-based gene therapy designed to potentially halt or reverse the progression of cystinosis with a single dose of the patient’s own hematopoietic stem cells. Before being transplanted into the patient, the stem cells are collected and genetically modified to express functional cystinosin, a transport protein which reduces the cystine build-up in the lysosomes of cells that cause the symptoms of cystinosis.

AVR-RD-04 has been granted Orphan Drug, Fast Track, and Rare Pediatric Disease designations in the U.S., as well as Orphan Medicinal Product designation in Europe. 

Within this particular Phase 1/2 study, researchers are evaluating the pharmacodynamics, safety, and efficacy of AVR-RD-04 in adults with cystinosis who were previously treated with cysteamine. Researchers aim to understand how AVR-RD-04 impacts kidney function and muscle strength, among other endpoints. So far, preliminary findings suggest that AVR-RD-04 is relatively safe and well-tolerated. AVROBIO looks to continue its research and hopefully launch an additional trial next year. 

What is Cystinosis? 

Cystinosis is a rare inherited metabolic and lysosomal storage disease. In patients with cystinosis, cystine (an amino acid) accumulates and crystallizes in cells throughout the body. This can cause kidney failure, organ damage, or even death without treatment. Cystinosis may be considered nephropathic, non-nephropathic (ocular), or intermediate. The former is the most severe. Symptoms and age of manifestation do vary based on specific clinical type. Potential symptoms related to cystinosis can (but do not always) include:

  • Excessive thirst
  • Corneal crystals
  • Failure to thrive
  • Difficulty swallowing
  • Muscle deterioration
  • Male infertility
  • Dehydration
  • Acidosis
  • Rickets
  • Nutrient loss through urine
  • Kidney failure
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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