NCT04368624

PKU Skin Stripping

A Novel Approach Integrating Non-invasive Skin Tape-stripping to Evaluate and Monitor Patients With Phenylketonuria (PKU)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 86 (actual)
• Sponsor: Children's Hospital Medical Center, Cincinnati · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.

Detailed description

This study will determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time. To do this 50 children and adults with phenylalanine abnormalities and up to 50 unaffected controls will be recruited to this study. The 50 affected individuals will have their metabolomic profile analyzed from up to 3 skin-stripping samples over time and compared to their serum amino acid profile in both dried blood spots and a typical blood sample. The unaffected controls will provide one skin-stripping sample. Clinical data regarding compliance with dietary therapy and other medications will be collected to determine other effects on the metabolome.

Conditions

• Phenylketonurias

Interventions

Type	Name	Description
OTHER	Skin Tape	Skin sample collection: samples of human stratum corneum will be obtained with squame adhesive tape disks typically at the time of their clinic appointment. The tape will be placed on the inside of the forearm and the procedure will be repeated up to five times per patient to have sufficient corneocytes for analysis. This type of sampling is non-invasive.
DIAGNOSTIC_TEST	Blood Draw	Blood specimens: blood will be obtained for serum amino acids/phenylalanine levels. This sample is obtained for disease monitoring as part of routine standard of care. Results from up to three clinic visits will be correlated with the tape sample obtained on the same day.

Timeline

• Start date: 2015-10-12
• Primary completion: 2020-12-01
• Completion: 2021-04-01
• First posted: 2020-04-30
• Last updated: 2021-07-28

Locations

1 site across 1 country: United States