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A feasibility study to evaluate PDE MAX, a food for special medical purposes (FSMP) for use in the dietary management of Pyridoxine Dependent Epilepsy (PDE) with regards to acceptability, tolerability, adherence and effect on metabolic control.

To evaluate product acceptability, tolerance and adherence during an 8-week intake of PDE MAX in patients with Pyridoxine Dependent Epilepsy.To evaluate the effects on metabolic control by comparing the changes from baseline after an 8-week intake…

Effectiveness of methylphenidate in adults with phenylketonuria and attention-deficit/hyperactivity disorder: An N-of-1 series

Primary Objective: To determine the effectiveness of methylphenidate in reduction of ADHD symptomatology, operationalized by personalized goals that are important to the patient and its environment, in individuals with late-diagnosed PKU. Secondary…

Responsiveness of the PRPP (Perceive-Recall-Plan-Perform System of Task Analysis and Intervention)
in children with mitochondrial disease

Exploring the responsiveness of the PRPP-Assessment in children with mitochondrial disorder

Pharmacokinetic cross-over study of compounded chenodeoxycholic acid

To investigate the pharmacokinetics of hospital pharmacy compounded CDCA capsules, compared to the commercial alternative.

COVID-19 Antibody Responses in Cystic Fibrosis

Our overall aim is to assess the seroprevalence of SARS-CoV-2 antibodies in an international population of pwCF and to examine associations between SARS-CoV-2 infection and clinical risk factors for infection, as well as subsequent clinical outcomes…