NCT02212288

Brief Summary

To date, oxidative stress in PKU has been evaluated only with fragmented approaches.The aim of the present study is to investigate oxidative stress in PKU with more comprehensive methods.The relationship between oxidative stress and metabolic disturbances (hyperPhenylalaninemia) will also be studied.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Sep 2014

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 28, 2014

Completed
11 days until next milestone

First Posted

Study publicly available on registry

August 8, 2014

Completed
24 days until next milestone

Study Start

First participant enrolled

September 1, 2014

Completed
4 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2015

Completed
Last Updated

January 16, 2017

Status Verified

January 1, 2017

Enrollment Period

4 months

First QC Date

July 28, 2014

Last Update Submit

January 13, 2017

Conditions

PKUHyperphenylalaninemia

Outcome Measures

Primary Outcomes (1)

  • Plasma concentrations of oxidative stress markers

    The main purpose of this preliminary study is to characterize oxidative stress in patients with PKU adults through a comprehensive approach involving the assessment of a wide combination of characteristic markers of oxidative stress and metabolic parameters that may be involved. In this context, we propose to establish an anti-oxidant signing in adult patients PCU using an innovative and comprehensive technical involving 1. Quantification of intraleucocytaire hydrogen peroxide (Evaluated by flow cytometry and is expressed as relative fluorescence intensity between patients and the control group) 2. Study of the expression of 24 genes involved in oxidative stress response (anti-oxydogramme) 3. Comparison nuclear NRF2 translocation 4. Comparison of DNA breaks 5. Quantification of antioxidant vitamins and trace elements.(in difference from Normal values)

    First Day

Secondary Outcomes (1)

  • Plasma concentrations of amino acids and organic acids concentration

    First day

Study Arms (2)

PKU patients

Adult PKU patients;Blood samples;Urine sample only at inclusion

Other: Blood sampleOther: Urine sample

Healthy controls

Adult Healthy controls;Blood samples;Urine samples only at inclusion

Other: Blood sampleOther: Urine sample

Interventions

Blood sampleOTHER

Blood samples are for metabolic and genetic and biological investigation

Healthy controlsPKU patients
Urine sampleOTHER

Urine sample for biological investigation

Healthy controlsPKU patients

Eligibility Criteria

Age18 Years - 65 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

10 PKU patients and 10 healthy controls with age and sex match

You may qualify if:

  • PKU patients over 18 years of age with phenylketonuria not treated with a phenylalanine-controlled diet.
  • Affiliation to a social security scheme
  • Reading and signing the informed consent
  • Control subjects: all healthy subjects over 18 years of unfulfilled abnormal metabolism of whatever nature and associated symptoms

You may not qualify if:

  • Pregnancy of patients and control subjects women (confirmed by a negative pregnancy test)
  • Patients with diseases that may cause oxidative stress (neurodegenerative diseases, cancer)
  • Patients treated with drugs known to cause oxidative stress
  • Control subjects:controlled protein diet

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital of TOURS

Tours, I&L, 37044, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Phenylketonurias

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • François MAILLOT, MD-PhD

    University Hospital of TOURS, France

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 28, 2014

First Posted

August 8, 2014

Study Start

September 1, 2014

Primary Completion

January 1, 2015

Study Completion

January 1, 2015

Last Updated

January 16, 2017

Record last verified: 2017-01

Locations

FR(1)