Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation...

Area of Science:

• Genetics
• Pharmacogenomics
• Neonatal Medicine

Background:

• Aminoglycosides are crucial for neonatal sepsis treatment but carry ototoxicity risks.
• The m.1555A>G mitochondrial DNA variant significantly increases this risk.
• Current genetic testing is too slow for acute neonatal care.

Purpose of the Study:

• To evaluate a rapid point-of-care test (POCT) for the m.1555A>G variant in neonates.
• To enable timely, personalized antibiotic prescribing.
• To prevent aminoglycoside-induced hearing loss in newborns.

Main Methods:

• Prospective-observational trial integrating genedrive POCT into clinical pathways.
• Testing performed on buccal swabs, yielding results in 26 minutes.
• Primary outcome: successful variant testing rate; Secondary outcome: impact on clinical timings.

Main Results:

• The genedrive POCT successfully detected the m.1555A>G variant in neonates.
• Rapid testing facilitated quicker, tailored antibiotic decisions.
• Clinical timings were analyzed to assess real-world impact.

Conclusions:

• Rapid POCT for m.1555A>G variant is feasible in neonatal settings.
• This technology supports personalized antibiotic therapy to prevent ototoxicity.
• Implementation can significantly improve safety in neonatal sepsis management.