E70.0
Conditions
Interventions
Group 1: In this observational study children and adults with PKU who had a sepiapterin responsiveness test or with a sepiapterin responsiveness test planned in the future can be enrolled.
Sponsors
Universitästsklinikum Heidelberg
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: •Children and adults with a confirmed diagnosis of phenylketonuria (PKU). •Sepiapterin treatment has already started or is planned following clinical routine measures •A sepiapterin responsiveness test was already conducted or is planned in the future •Written informed consent from patients, parents or legal guardians
Exclusion criteria
Exclusion criteria: •The individual, in the opinion of the investigator, is unwilling or unable to adhere to the requirements of the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Assessment of sepiapterin responsiveness in patients with PKU under routine clinical care using proposed standardized test protocols once at the time of switching to sepiapterin in routine practice in all participating metabolic centers without follow-up. | — |
Secondary
| Measure | Time frame |
|---|---|
| • To assess changes in blood Phe concentrations and dietary Phe tolerance. • To explore predictors of sepiapterin responsiveness (genotype, age, baseline Phe levels (10 last values before the test), result of previously conducted BH4 tests, daily phenylalanine intake at the timepoint of sepiapterin responsiveness test, comorbidities, non-PKU related medications). • To document safety and tolerability of Sepiapterin in different patient groups. • Establishment of uniform responsiveness criteria. | — |
Countries
Austria, Germany, Switzerland
Contacts
Public ContactThomas Opladen
Universitätsklinikum Heidelberg
Outcome results
None listed