Metabolic Diseases, Phenylketonuria
Conditions
Brief summary
The aim is to demonstrate a new application for a blood collection device. This device is already widely used in pharmacology. It is not currently used for metabolic diseases. Its ease of use enables repeated sampling at home. What's more, the device can be sent by post, making it ideally suited to the needs of this cohort of children, whose phenylalanine levels need to be monitored very regularly.
Interventions
DIAGNOSTIC_TESTDM-DIV MITRA®
Comparison of phenylalanine concentrations in the new device with those in the current device (blotter).
Sponsors
University Hospital, Grenoble
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Months to 18 Years
Healthy volunteers
No
Inclusion criteria
* Children aged 3 months to 18 years * suffering from phenylketonuria or hyperphenylalaninemia * who have had a capillary and blood test including a phenylalanine assay at CHUGA * Whose parents or legal guardians are affiliated to the social security system. * For whom parents or legal guardians have not objected to the MitrAlanine study.
Exclusion criteria
* Parents or legal guardians opposed to the MitrAlanine study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of phenylalanine concentrations | Day 1 | Comparison of phenylalanine concentrations in the new device with those in the current device (blotter). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Ease of use of research device | Day 1 | ease of use of DM-DIV MITRA® and DM-DIV HemaPEN® via a 3 questions-and-answer guide for samplers |
| sample conformity | Day 1 | Conformity of blood sample on DM-DIV MITRA® and DM-DIV HemaPEN® versus DM-DIV Perkin Elmer |
| comparison of concentrations of tyrosin | Day 1 | comparison of concentrations of other amino acids (tyrosin) dosed at the same time as phenylalanine |
| comparison of concentrations of total leucin | Day 1 | comparison of concentrations of other amino acids (total leucin) dosed at the same time as phenylalanine |
| comparison of concentrations of methionin | Day 1 | comparison of concentrations of other amino acids (methionin) dosed at the same time as phenylalanine |
Countries
France
Contacts
Primary ContactChristelle CORNE, MD
Backup ContactCaroline TOURNEGROS, CRA
Outcome results
None listed