79 results
The primary purpose of the study is to investigate whether the new 20 mg capsule of Orfadin® (nitisinone) has a similar bioavailability in the body (gives the same concentration in the blood) as two of the marketed capsules of 10 mg. The secundary…
1. To obtain knowledge about the nutritional status of adult patients with mitochondrial disease and the determinants that contribute to this.2. Evaluate the effect of dietary intervention in adult patients with mitochondrial disease on nutritional…
The aim of the current study is to evaluate the added value of quantitative sensory testing and intraepidermal nerve fiber density in individuals with a AGAL deficiency and/or variation in the GLA gene of unknown clinical significance. These…
To test the reliability and validity of the IPMDS in children with mitochondrial disorders.
The primary objective of this study is to show bioequivalence between nitisinone oral suspension and nitisinone capsules.Secondary objectives of this study are:- To assess the effect of food on the bioavailability of nitisinone oral suspension.- To…
The aim of this study is to develop a better understanding of the clinical phenotype of LAL Deficiency/CESD phenotype to support the design and interpretation of planned clinical studies with SBC-102 and to inform and enhance the evaluation and care…
The main objective: to evaluate the prescribed intake of micronutrients and fatty acids from natural protein and amino acid mixtures, and to correlate it to blood levels of these micronutrients and fatty acids, in patients with PKU. Secondary…
The purpose of this study concerns at a standardized way identifying the phenotype of patients with mt.3243A>G mutation, and relatives in the maternal line of patients with the mt.3243A>G mutation
The trial is designed as an open-label pilot study. The main goal is to investigate if bezafibrate can reduce VLCFA in vivo in patient with X-ALD. If there is indeed a biochemical effect, a large follow-up study will be initiated with clinical…
Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).
1. Primary Objective(s) The primary objective(s) of this study are to:* Evaluate the course of disease progression in patients with MPS IIIA who are untreated with any investigational products to inform possible future treatment studies * Determine…
To determine the frequency of symptoms and signs of a neuromuscular disorder (myopathy, neuropathy) in patients with haemochromatosis. To evaluate in these patients the impact of these symptoms and signs on the quality of life. To assess in patients…
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. What proportion of X-ALD carriers have symptoms en what are those symptoms (as evaluated by history, neurologic examination and electrophysiology)?2. At what age did symptoms fist manifest themselves and how is the progression of those symtpoms?3…
Primary objective of this study is: To assess the efficacy of adjuvant therapy of ALD-101 in accelerating platelet engraftment in patients also receiving a standard unrelated UCBT for treatment of inborn errors of metabolismThe secondary objective…
The first aim of this study is to extend clinical knowledge on Sanfilippo syndrome. This has several important reasons:*Clinical knowledge helps the physician to provide better care to patients diagnosed with this incurable disease and to counsel…
To determine the prevalence of α-Galactosidase A deficiency in male patients presenting with renal failure, proteinuria or micro-albuminuria of unknown cause, at the outpatient clinic of the department of internal medicine of a large teaching…
Since the first description of FPLD it is becoming increasingly evident that lipodystrophy is often misdiagnosed as diabetes with extreme insulin resistance. With this project, we want to find out the prevalence of lipodystrophy in patients with…
The objective is to get insight in the pathophysiology of small fibre neuropathy in Fabry patients. Insight in the pathophysiology will be obtained by:1. Describing results obtained by the QST protocol, skin biopsies and autonomic function tests in…
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.