PhenylketonuriasNCT04368624
PKU Skin Stripping
An observational study of Phenylketonurias, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Phenylketonurias
- What is being tested?
- Skin Tape and Blood Draw
- How many people
- 86 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Oct 2015to Apr 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Phenylketonuria (PKU) is a serious metabolic disorder characterized by intolerance to the dietary intake of phenylalanine. When untreated, older children can show the following clinical manifestations: microcephaly, epilepsy, a musty body odor, decreased skin and hair pigmentation, eczema, severe intellectual disability, and behavioral problems.
Who may be able to join
- A clinical diagnosis of PKU that is confirmed by elevated serum phenylalanine.
- Any age.
- Subject or the subject's legal authorized representative has given written informed consent to participate in the study.
Who cannot join
- Not applicable.
Trial locations and contacts
1 site in 1 country.
United States1 site
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
About this study
Official title: A Novel Approach Integrating Non-invasive Skin Tape-stripping to Evaluate and Monitor Patients With Phenylketonuria (PKU)
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.
Read the 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
- Being tested
- Skin Tape, Blood Draw
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin TapeOther
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 DrawDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: Skin Tape; Diagnostic Test: Blood Draw | |
| Non-PKU Control | Study Controls: Up to 50 children and adults without a known metabolic disorder. Receives: Other: Skin Tape |
What is being measured
The primary outcome is the main question the study is designed to answer.
Control Metabolomic Profile (skin)
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.
Measured: 5 years
PKU Metabolomic Profile (skin)
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.
Measured: 5 years
Metabolomic Profile Change
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.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2020
- Study start12 Oct 2015
- Primary completionDec 2020
- Study completionApr 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 86 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Sponsor
- Investigators
- Carlos E Prada, MD, Principal investigator, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04368624
- Sponsor's protocol ID
- 2015-3664
- Status last verified
- Jul 2021
- First submitted
- 15 Apr 2020
- Last updated
- 28 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 16630170
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Novel Approach Integrating Non-invasive Skin Tape-stripping to Evaluate and Monitor Patients With Phenylketonuria (PKU)
- ClinicalTrials.gov ID
- NCT04368624
- Acronym / sponsor ID
- 2015-3664
- Conditions
- Phenylketonurias
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 86 participants (actual)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- 12 Oct 2015 (actual)
- Primary completion
- Dec 2020 (actual)
- Study completion
- Apr 2021 (actual)
- First posted
- 30 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Participants with PKU | – | Other: Skin Tape, Diagnostic Test: Blood Draw1. 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 | – | Other: Skin TapeStudy Controls: Up to 50 children and adults without a known metabolic disorder. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Phenylketonuria (PKU) is a serious metabolic disorder characterized by intolerance to the dietary intake of phenylalanine. When untreated, older children can show the following clinical manifestations: microcephaly, epilepsy, a musty body odor, decreased skin and hair pigmentation, eczema, severe intellectual disability, and behavioral problems.
Key inclusion criteria (3 listed)
- A clinical diagnosis of PKU that is confirmed by elevated serum phenylalanine.
- Any age.
- Subject or the subject's legal authorized representative has given written informed consent to participate in the study.
Key exclusion criteria (1 listed)
- Not applicable.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin TapeSkin 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. | Other | Non-PKU Control, Participants with PKU |
| Blood DrawBlood 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. | Diagnostic test | Participants with PKU |
Primary outcome
Control Metabolomic Profile (skin)
Time frame: 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)
Time frame: 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
Time frame: 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2021.
- Background: PubMed 16630170Holleran 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.
- Individual participant dataSharing planned: No
Related trials for Phenylketonurias
RecruitingPhase 1
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
Phenylketonuria
RecruitingPhase 2
A Study of MZE782 in Adults With PKU
Phenylketonuria (PKU)
RecruitingPhase 3
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Phenylketonuria
Recruiting
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Carrier of Phenylketonuria, Healthy
RecruitingPhase 3
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
Phenylketonuria
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Carlos E Prada, MD principal investigator
Children's Hospital Medical Center, Cincinnati
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Control Metabolomic Profile (skin) (time frame: 5 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04368624, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jul 2021.