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A Phase III, Multicentre, Randomised, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Bioresorbable CUV1647 Implants in Patients with Erythropoietic Protoporphyria (EPP)

The objectives of the study are to evaluate the following in patients with a documented history of EPP:•determine whether CUV1647 can reduce the number of phototoxic reactions in patients with EPP•determine whether CUV1647 can reduce the severity of…

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 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.

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));…