87 results
The primary objective of TRIHEP 3 is to evaluate the efficacy of triheptanoin in (i) increasing the short term energy response in the metabolic profile of the brain of early affected HD patients, as captured by 31P-MRS, and (ii) slowing atrophy in…
Primary objective: - 50% seizure reduction or more at 3 months of dietary treatment .Secondary objectives: -level of ketosis on KD and MAD.-number of patients maintaining >50% seizure reduction on MAD.-number of withdrawals (not able to…
Primary Objective: The primary objective of this study is to evaluate safety and tolerability of pridopidine in patients with HD.Secondary Objectives: The secondary objectives of the study are to assess the effects of long-term, open-label dosing…
Primary objective: The main objective of this pilot study is to gain more insight into the effects of tVNS: to assess if the ABVN and consecutively the NTS are really stimulated by tVNS. Therefore this study investigates the effects of tVNS on the…
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
Primary Study Objective: The primary objective of this study is to assess the efficacy of laquinimod 0.5 mg and 1.0 mg qd in patients with HD after 12 months of treatment using the UHDRS-TMS.Secondary Study Objectives:• To assess the effect of…
The main purpose of this study is to find out whether EMDR is a safe and effective treatment to reduce the symptoms of PTSD in people with mild intellectual disability and borderline intellectual functioning. In addition, it is expected to reduce…
This study aims to demonstrate the clinical efficacy of patisiran and to establish the safety of chronic dosing in ATTR patients with FAP.The primary objective of the study is to determine the efficacy of patisiran by evaluating the difference…
The primary objective is to measure the longitudinal changes of PDE10A enzyme availability in the caudate, putamen, and globus pallidus of Huntington*s Disease Gene Expansion Carrier (HDGECs) by comparison of the follow-up and initial Positron…
The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).
To determine the safety and efficacy of Dimebon in patients with mild-to-moderate Huntington Disease
To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly
(1) Identification of novel loci and genes in which mutations are responsible for the development of inherited epileptic syndromes. (2) Establishing genotype-phenotype correlations; defining the yield of mutation screenings in specific patient…
1) What is the long-term course of tics and comorbid OCD, ADHD and Quality of life in patients with GTS? 2) What are determinants of favourable versus unfavourable course?
The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA.
The primary objective is to measure the availability of the PDE10A enzyme in Huntington*s Disease (HD)gene expansion carriers (HDGECs) by estimating and comparing the distribution volume (VT) of the radioligand [18F]MNI-659 in the striatum (caudate…
Our objective is to obtain insight into whether and how the visual and auditory systems of hemispherectomized patients have adapted after brain damage and brain surgery in early life. For this purpose we will perform psychophysical tests and (…
To investigate the underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…