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Validity and feasibility of accelerometers for assessing habitual physical activity in children with mitochondrial disease.

Study i)Select the most valid and feasible accelerometer for measuring habitual physical activity in children with a mitochondrial disorderStudy ii)Measure the test-retest reliability of this instrument

A pilot study to explore plasma abnormalities as possible biomarkers in patients with acid sphingomyelinase deficiency (ASMD)

Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…

Cardiometabolic consequences of Hereditary Fructose Intolerance

Based on the gaps in our knowledge (as stated above), we have formulated the following objectives:- To quantify the degree of hepatic fat accumulation and fibrosis in patients with HFI. - To gain more insight in the mechanism leading to NAFLD in…

Function and body composition of patients with mitochondrial disease

1. Determine body composition of MD patients;2. Determine physical function of MD patients;3. Determine the association of body composition and physical function of MD patients.

AAV8-mediated Low Density Lipoprotein Receptor (LDLR) Gene Replacement in Subjects with Homozygous Familial Hypercholesterolemia (HoFH)

The primary objective will be to determine the safety of AAV8.TBG.hLDLR administration in this patient population. The secondary objective is to assess the efficacy of LDL-C reduction achieved with AAV8.TBG.hLDLR administration.

A Phase 1/2, Single-Blind, Placebo-Controlled, Single- and Multiple-Ascending Dose Safety, Tolerability, Pharmacokinetic and Pharmacodynamics Study of Subcutaneously Administered
ALN-GO1 in Healthy Adult Subjects, and Patients with Patients with Primary Hyperoxaluria Type 1

Primary* Evaluate the safety and tolerability of single- and multiple-ascending doses of ALN-GO1, respectively, in healthy adult subjects and in patients with PH1Secondary* Characterize the pharmacokinetics (PK) of ALN-GO1* Evaluate the…

A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment naïve Patients with Late-onset Pompe Disease

The overall objective of this study is to evaluate the efficacy and safety of neoGAA in treatment-naïve patients with LOPD as compared to alglucosidase alfa, when this is administered biweekly for a period of 49 weeks. Also, there is an open-label…

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));…

Study of gut microbiota profile in children with propionic acidemia

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