154 results
The primary objective of the study is to assess the pharmacokinetics (PK) of PXL770 in AMN subjects at the dose of 500mg once daily (OD) and 250mg twice daily (BID) after 4 weeks of treatment.
Primary objective:- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dtuch SCA7 mutation carriers.Secondary objectives:- To quantify the annual change in disease-relevant clinical scales and…
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…
To develop a feasible assessment protocol to quantify the impaired upper extremity function in terms of muscle weakness, spasticity, synergy and viscoelastic properties around the elbow.To evaluate the reliability (test-retest, measurement error)…
To evaluate to what extent primary headache disorders are caused by genetic factors and to identify genes and pathways involved in the pathophysiology of these disorders.
To assess the safety and efficacy of long-term dosing with patisiran in transthyretin-mediated amyloidosis (ATTR) patients with familial amyloidotic polyneuropathy (FAP)
This study aims to assess metabolism in patients with DM1, in resting state, in the normal situation and during exercise, taking into account muscle mass, and compared to healthy age- and gender-matched subjects. We hypothesize that DM1 is…
To date, non-clinical and clinical data have been generated to support further investigation of RO7234292 in patients with early manifest HD. Building on the recently completed Phase I/IIa study and the ongoing OLE study, this Phase Ia study (…
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 primary aim of this study is to investigate the safety and feasibility of ultra-high field magnetic resonance imaging (MRI) of the brain in neonates and to optimize scan protocols.
The primary objective of the study is to develop new sensitive and quantitative outcome measures for clinical trials in ALD. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.
The overall goal of this study is to accelerate the development of new therapies for DM1 by validating new clinical assessments for measuring disease status and collecting data and biological samples to help understand disease progression and…
To investigate the feasibility and usefulness of various MR techniques as a quantitative biomarker for SMA severity and disease progression. Two different MR protocols will be used. The first to investigate muscle tissue in the upper leg of both SMA…
Primary Objective:To characterize a cohort of STXBP1-encephalopathy patients in a standardized, integrative manner, including in-depth clinical profile characterization and EEG recordings. Moreover, for a subgroup of patients, iPSC-derived induced…
The present study aims to investigate whether a standardized 8-week group MBSR treatment can significantly reduce symptoms of stress, anxiety and depression, and improve quality of life in at-risk mutation carriers for FTD. The primary objective is…
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…
The goals of this study are to examine the aetiology and daily impact of peripheral neuropathy in MLD patients over time, and to identify dynamic biomarkers that correlate with the severity of peripheral neuropathy over time, and might predict…