6 results
The aim of this project is to validate the hypothesis that intranasal insulin improves development and behaviour in children with Phelan-McDermid syndrome.
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.
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…
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));…
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…
Primary: To evaluate safety and tolerability of sepofarsen in subjects with LCA10 <8 years of age.Secondary: To evaluate the effect of sepofarsen on structural and functional ophthalmic outcome measures.