14 results
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
Primary Objective - To determine if afamelanotide can reduce the severity of PLE related pruritis.Secondary Objectives- To determine if afamelanotide can reduce the frequency of PLE episodes;- To determine if afamelanotide can reduce the duration of…
Primary objective: - To determine whether afamelanotide can reduce the severity of phototoxic reactions in patients with EPPSecondary objectives:- To determine whether afamelanotide can reduce the number of phototoxic reactions in patients with 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…
This study will evaluate the effect of approximately 10 years of pravastatin treatment on IMT in young adults with FH. Furthermore, safety parameters and psychological aspects with respect to early treatment initiation will be investigated.
Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).
In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…
The study aims at examining the effect of an individual tailored lifestyle intervention to reduce the cardiovascular disease risk in people with FH.Secundary, the study aims at promoting a healthy lifestyle (no smoking, proper nutritional pattern,…
The aim of this study is to evaluate the efficacy, safety, compliance and tolerability of 15 years of pravastatin therapy initiated during childhood in young adult FH patients.
To evaluate product acceptability, tolerance and adherence during an 8-week intake of PDE MAX in patients with Pyridoxine Dependent Epilepsy.To evaluate the effects on metabolic control by comparing the changes from baseline after an 8-week intake…
The aim of this study is to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH). In addition, breast milk composition and the transfer of statins to breast milk…
This study has been transitioned to CTIS with ID 2024-519705-36-00 check the CTIS register for the current data. The primary objective will be to investigate if a two-year course of TPTD followed by antiresorptive treatment with a single infusion of…
Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…
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));…