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A study to evaluate the bioequivalence of Orfadin capsules 20 mg compared to Orfadin capsules 10 mg. An open-label, randomized, cross-over, single-dose study in healthy volunteers.

The primary purpose of the study is to investigate whether the new 20 mg capsule of Orfadin® (nitisinone) has a similar bioavailability in the body (gives the same concentration in the blood) as two of the marketed capsules of 10 mg. The secundary…

Bioequivalence of Orfadin suspension 4 mg/mL compared to Orfadin capsules 10 mg, and the effect of food on the bioavailability of the suspension.
An open-label, randomized, cross-over, single-dose study in healthy volunteers.

The primary objective of this study is to show bioequivalence between nitisinone oral suspension and nitisinone capsules.Secondary objectives of this study are:- To assess the effect of food on the bioavailability of nitisinone oral suspension.- To…

Effects of short term increase of phenylalanine levels
on neuropsychological functions and well-being
in adults with phenylketonuria: the *diet for life* study

To evaluate the effects of short term supplementation of Phe to levels comparable to levels observed in adult patients who fully discontinued their diet on neuropsychological functions and wellbeing of adult patients with PKU.

Effectiveness of L-serine dietary supplementation in children with a GRIN2B loss-of-function mutation: n-of-1 series

Assess the potential efficay of L-serine dietary supplementation in patients children with a GRIN2B LoS mutation.

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…

A phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency

The primary objective of this study is to evaluate the efficacy of olipudase alfa in adult patients with acid sphingomyelinase deficiency.

Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series

This study has been transitioned to CTIS with ID 2024-514012-28-00 check the CTIS register for the current data. Assess the neurological efficacy of ambroxol in adults and children with GD3.

The effect of a low carbohydrate- high fat diet on clinical symptoms and gut microbiome in m.3243A>G related mitochondrial disease

To explore the effect of a LCHF diet on clinical symptoms and gut microbiome in MD patients due to the m.3243A>G mutation in mitochondrial DNA.