15 results
The goal of this research project comprises two important components that are intricately related:1) To define the pathophysiological state of the peripheral motor pathway in patients with SMA and to determine the contribution of the constituting…
This study has been transitioned to CTIS with ID 2024-516123-13-00 check the CTIS register for the current data. Part I:Primary Objective: Evaluate the effects of tiratricol on neurodevelopment in young MCT8 deficiency patients, as measured by the…
The primary objective is to study the association between maternal TL and the risk of SB in offspring. The secondary objectives are to investigate the relation between maternal TL and obstetrical (pregnancy course and outcome), environmental risk…
The main objective of the study is to investigate MEG-based hippocampal and whole brain neuronal hyperactivity in preclinical DIAD mutation carriers and to find proof-of-concept for the translatability of findings from preclinical AD mouse models to…
The aim of this study is to assess the feasibility and efficacy of respiratory muscle training (RMT) in patients with SMA and respiratory muscle weakness.
The purpose of this Phase 3 study is to further evaluate the effect of pridopidine 45*mg BID on functional capacity, as well as motor and behavioral features of HD in early-stage participants (TFC*713).
Primary Objective: • To chart longitudinal disease progression rates for SPG7 and ARSACS by a multisite, prospective natural history study. Secondary Objective(s): • Development of a new clinical SPAX composite scale.• To identify (a combined set of…
Primary Objective- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dutch SCA1 mutation carriers. Secondary Objectives:- To quantify the annual change in disease-relevant clinical scales and…
The primary objective is to demonstrate the superiority versus placebo of a 4 weeks intranasal OT administration on oral skills assessed by the Neonatal Oral-Motor Assessment Scale (NOMAS) in infants with PWS aged less than or equal to 3 months at…
The aims of this study are to examine the degree of systemic inflammation in ALSP patients, and whether there is a change in the degree of systemic inflammation after treatment with an allogeneic HCT.Primary research questions:1. Are cytokine…
To gain insight into how people with CP of 40 years or older experience their citizenship and how these adults can be supported in their citizenship. How their citizenship has changed over time. To develop posters for rehabilitation practice to gain…
The primary objective of this study is to investigate the feasibility of several promising outcome measures in children with AS, which may later serve as potential outcome measures for treatment studies and other research. The study*s secondary…
Identifying the genotype-phenotype-imaging correlates in GBA mutation carriers with and without Parkinson*s disease using functional and structural magnetic resonance imaging (MRI).
To investigate plasticity in the visual cortex in NF1 patients, we will compare the VEPs evoked by checkerboard reversals at baseline and after a modulation block at T1, T2 and T3 of NF1 patients with those of controls.
The purpose of this explorative study is to investigate whether treatment with lactate has any positive effect on the symptoms of GLUT1DS, especially the drug-resistant epilepsy.Primary Objective: - To assess changes in EEG during and shortly after…