PKU Skin Stripping

NCT ID: NCT04368624

Last Updated: 2021-07-28

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 86 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-10-12
• Study Completion Date: 2021-04-30

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.

Conditions

Phenylketonurias

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Participants with PKU

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

Skin Tape

Intervention Type: OTHER

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.

Blood Draw

Intervention Type: DIAGNOSTIC_TEST

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.

Non-PKU Control

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

Skin Tape

Intervention Type: OTHER

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.

Interventions

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.

Intervention Type: OTHER

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.

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

BioMarin Pharmaceutical

INDUSTRY

Sponsor Role: collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Carlos E Prada, MD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Locations

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Countries

United States

References

Holleran WM, Ziegler SG, Goker-Alpan O, Eblan MJ, Elias PM, Schiffmann R, Sidransky E. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin Genet. 2006 Apr;69(4):355-7. doi: 10.1111/j.1399-0004.2006.00589.x. No abstract available.

Reference Type: BACKGROUND

PMID: 16630170 (View on PubMed)

Other Identifiers

2015-3664

Identifier Type: -

Identifier Source: org_study_id