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Effect of dietary suppletion with genestein in patients with the MPS III

The objective of the study is to establish the effect of genestein in patients with MPS III on urinary and serum GAGs levels, hair morphology, GAG accumulation in skinbiopsy, cognitive functions and behavior (Piotrowska et al, 2008).MPS III is a…

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.

Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease type IIIa.

To investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…

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…

Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study

This study has been transitioned to CTIS with ID 2023-510278-14-00 check the CTIS register for the current data. Primary Objective:In all jurisdictions except the United States (US), the primary objective is to evaluate the efficacy of N-Acetyl-L-…

A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) with a Crossover to Open-Label Once Weekly Setmelanotide in Patients with Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation

Primary: To compare the pharmacokinetics (PK) of the once daily (QD) and once weekly (QW) formulations of setmelanotideSecondary Objectives:To assess the safety of the QW formulation of setmelanotide with up to 6 months (26 weeks) of drug…

The phenylalanine eat or diet study: direct effects of high or low phenylalanine values on cognitive functioning in adults with PKU.

Primary objective: To accurately assess the direct functional consequences of high versus low phenylalanine levels in adult patients with PKU, using eye-hand coordination testing in tasks of different cognitive complexity. Secondary objective: To…

A comparison of Glycosade® and Uncooked Cornstarch (UCCS) for the dietary management of hepatic glycogen storage diseases (GSD)

In light of the variability in response between UCCS and Glycosade® in patients with hepatic GSD (personal communication from authors and published data (Bhattacharya et al. 2007; Correia et al. 2008; Corrado M et al, 2013; Hubert A et al, 2013));…