PKU Skin Stripping

Completed

• Conditions: Phenylketonurias
• Interventions: Other: Skin Tape; Diagnostic Test: Blood Draw

• Registration Number: NCT04368624
• Lead Sponsor: Children's Hospital Medical Center, Cincinnati

Brief 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.

Study Timeline

• Study Start: 2015-10-12
• Study First Submitted: 2020-04-15
• Study First Submitted QC: 2020-04-29
• Study First Posted: 2020-04-30
• Primary Completion: 2020-12
• Study Completion: 2021-04
• Status Verified: 2021-07
• Last Update Submitted: 2021-07-26
• Last Update Posted: 2021-07-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 86

Inclusion Criteria

1. A clinical diagnosis of PKU that is confirmed by elevated serum phenylalanine.
2. Any age.
3. Subject or the subject's legal authorized representative has given written informed consent to participate in the study.

Exclusion Criteria

• Not applicable.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with PKU	Skin Tape	1. Patients with classical PKU phenotype (serum phenylalanine concentration \> 10 mg/dL on a normal diet at diagnosis) # \~25 2. Patients with hyperphenylalaninemia (serum phenylalanine concentration \< 10 mg/dL on a normal diet at diagnosis) # \~15 3. Patients with PKU on therapy with Kuvan # \~10
Non-PKU Control	Skin Tape	Study Controls: Up to 50 children and adults without a known metabolic disorder.
Participants with PKU	Blood Draw	1. Patients with classical PKU phenotype (serum phenylalanine concentration \> 10 mg/dL on a normal diet at diagnosis) # \~25 2. Patients with hyperphenylalaninemia (serum phenylalanine concentration \< 10 mg/dL on a normal diet at diagnosis) # \~15 3. Patients with PKU on therapy with Kuvan # \~10

Primary Outcome Measures

Name	Time	Method
Control Metabolomic Profile (skin)	5 years	The establishment of normative data for the skin metabolome will provide a baseline for assessing changes in the skin metabolome that occur during development and with disease.; By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.
PKU Metabolomic Profile (skin)	5 years	By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.
Metabolomic Profile Change	5 years	Determine if the metabolomic profile changes over time in patients with PKU. By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.

Trial Locations

Locations (1)

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States