PKU Skin Stripping

Cincinnati Children's Hospital Medical Center

Status: Completed

Conditions: Phenylketonurias

Treatments: Other: Skin Tape; Diagnostic Test: Blood Draw

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT04368624

2015-3664

Details and patient eligibility

About

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.

Full 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.

Enrollment: 86 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Trial design

86 participants in 2 patient groups

Participants with PKU

Description:

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

Treatment:

Diagnostic Test: Blood Draw

Other: Skin Tape

Non-PKU Control

Description:

Study Controls: Up to 50 children and adults without a known metabolic disorder.

Treatment:

Other: Skin Tape