Study to evaluate the reliability and practicability of the PKU Sensor and PKU App in home settings of patients with phenylketonuria
- Conditions
- E70.0E70.1Classical phenylketonuriaOther hyperphenylalaninaemias
- Registration Number
- DRKS00031972
- Lead Sponsor
- niversity Hospital Heidelberg
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- All
- Target Recruitment
- 50
•Genetically confirmed phenylalanine hydroxylase deficiency
•Patients or their parents are capable to give informed consent (written informed consent, signed and dated)
•Willing and able to comply with the protocol and study procedures
•Male/ female/diverse patients
•Newborns (after birth until the end of the 4th week of life
or
•Toddlers (5th week of life to the end of the 1st year of life)
or
•Infants (1st to the end of the 5th year of life)
or
•Children (6th to the end of the 11th year)
or
•Adolescents (from the age of 12 to the end of 17)
or
•Adults (18-99 years)
or
•Pregnant women
•The individual, in the opinion of the investigator, is unwilling or unable to adhere to the requirements of the study
•Any other know genetic disorder in amino acid metabolism
•Participation in interventional clinical studies
•Mentally disabled persons that are needing a legal representative
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Evaluation of the reliability of phenylalanine (PHE) measurements as point-of-care analyses in patients with phenylketonuria (PKU) at home compared to the standard flow injection analysis using tandem mass spectrometry (FIA-MS-MS)
- Secondary Outcome Measures
Name Time Method •To evaluate the differences in duration between blood sampling and result, measured by PoC analyses and FIA-MS-MS.<br>•To assess the safety of PKU Sensor use in subjects with PKU. <br>•To evaluate the practicability of the PKU Sensor and the app via survey for the total collective and subgroups (age groups)