Avrobio has received rare pediatric disease designation from the US Food and Drug Administration (FDA) for its investigational gene therapy, AVR-RD-04, designed to treat cystinosis.

AVR-RD-04 works by genetically modify a patient’s hematopoietic stem cells (HSCs) to express the gene that encodes the cystinosin protein. Cystinosis patients have a high deficiency of this protein.

Having earlier obtained orphan drug designation from the regulatory agency, AVR-RD-04 is now the company’s second gene therapy programme to receive rare pediatric disease status.

According to initial findings from the Phase I/II clinical trial, which is underway at the University of California San Diego, the therapy was found to be well tolerated.

Additionally, no adverse events (AEs) linked to the drug have been reported so far. 

All AEs seen were linked to myeloablative conditioning, stem cell mobilisation, underlying ailment or already existing conditions. 

According to the clinical findings obtained so far, the investigational approach was shown to offer benefits in various tissues assessed, including the eyes, skin, gastrointestinal mucosa and neurocognitive system. 

The FDA’s rare pediatric disease designation and Voucher Program aid the development of new drugs and biologics to prevent and treat rare paediatric ailments. 

If a company is approved for New Drug Application (NDA) or Biologics License Application (BLA) for a rare pediatric disease, they can get a voucher for priority review of a later marketing application for another product.

A rare and fatal ailment, cystinosis is characterised by cystine buildup in cellular organelles called lysosomes. 

It leads to progressive damage to various organs, including early, acute kidney disease advancing to end-stage kidney disease.

In July, Avrobio obtained orphan drug designation from the US FDA for AVR-RD-05 to treat mucopolysaccharidosis type II (MPSII) or Hunter syndrome.

Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.

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