Rubius Therapeutics is a biopharmaceutical company that focuses on cellular medicines. They have recently dosed the first patient in Phase 1b of their clinical trial of RTX-134. This therapy is meant for the treatment of phenylketonuria (PKU). This phase of the trial will evaluate the safety, effectiveness, and longevity of RTX-134. The timing of the presentation of this information will be released further into this study when researchers have a better understanding.
About Phenylketonuria (PKU)
Phenylketonuria (PKU) is a genetic condition that is characterized by a buildup of the amino acid phenylalanine. Without proper treatment, this accumulation can lead to serious health problems. PKU affects one of every 10,000-15,000 births.
As symptoms only begin to show after the amino acid has built up, they do not show immediately after birth. Instead, it takes a few months for the onset of symptoms to occur. It is important that these symptoms are noticed immediately so that treatment can begin; permanent damage is possible if there is no intervention. Symptoms include:
- Developmental delays
- Intellectual delays
- Decreased bone strength
- Abnormally small head (microcephaly)
- Fair skin and eyes due to poor melanin production
- Skin rashes such as eczema
- Musty odor to breath, skin and/or urine
- Heart defects
The gene responsible for the enzyme phenylalanine hydroxylase is mutated in those affected by PKU. This enzyme breaks down the amino acid, so its absence leads to the accumulation that causes symptoms. The gene is inherited in an autosomal recessive pattern, meaning both parents must pass down the mutated form in order for a child to be affected.
Early detection is necessary for the treatment of this disorder. Without it, there will be permanent damage. Treatment typically consists of dietary adjustments, such as specialized baby formula, adult formula supplements, and avoiding foods high in protein. Monitoring levels of phenylalanine is also important, as is Kuvan, which is a medication that can lower the levels.
RTX-134 is a red blood cell therapeutic candidate. It was made to express an enzyme called PAL. This therapy travels through the blood stream and breaks down the buildup of phenylalanine.
Medical professionals believe that RTX-134 may have a more lasting effect than current treatments. They also hope that there will be less adverse effects associated with the immune system, making this therapy better tolerated and convenient for patients.
About the Clinical Trial
The first patient was dosed in Phase 1b of the study of RTX-134. It is an open-label, single-dose safety study of 12 people with PKU. Researchers hope to evaluate the safety and tolerability of this treatment, as well as the pharmacodynamics. There will be four dose cohorts, and two patients will be treated per cohort. It is a flexible study, allowing for more patients to be added during the trial if necessary.
Researchers hope that this treatment will be more effective, safer, and better tolerated in those affected with PKU.
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