66 results
The aim of this study is to determine NET availability in patients with neurodegenerative diseases to characterize NA system degeneration in people with Alzheimer's disease, Parkinson's disease (with and without dementia) and with…
The objectives of the study are:• To understand the phenotypic heterogeneity and phenotype/genotype correlation and natural history of ALSP.• To develop and evaluate biomarkers for assessing disease progression in patients with ALSP.• To create the…
Primary Objective: We aim to provide a clear phenotype of the immune system in patients with FOXP1 syndrome. Secondary Objectives:We aim to correlate the immunophenotype of patients with FOXP1 syndrome with frequency and type of infections reported…
This study has been transitioned to CTIS with ID 2024-518989-27-00 check the CTIS register for the current data. Objective: Primary Aim (PHASE 1):To determine the prevalence of RLS in women with ALD.Secondary Aim (PHASE 2):To determine whether in a…
The aim is to obtain sufficient data about aortic hemodynamics and motion in MFS patients in different disease stages (e.g. native aorta, after conventional surgery and after PEARS procedure) and while receiving different medical treatments, to…
Assess the potential efficay of L-serine dietary supplementation in patients children with a GRIN2B LoS mutation.
Objective: The primary objective of this pilot project is to investigate the early course of motor development in children with DS. Secondary objectives are to investigate the relation between type of SCN1A mutation and developmental profile and to…
Primary Objective: To assess the safety of the single flap peritoneum vaginoplasty procedure by studying adverse events and complications during, directly after and within 90 days of the operation. Secondary Objectives: - To assess short- (12 weeks…
Main Objective:To evaluate the efficacy of REN001 in subjects with PMM treated for 24 weeks, assessed by the effect on exercise endurance.Secondary Objective:To evaluate the efficacy of REN001 in subjects with PMM treated for 24 weeks, assessed by…
Primary objective: The primary objective of the study is to evaluate the clinical efficacy of ISIS 721744 in patients with hereditary angioedema (HAE).Secondary objective: Evaluate the effects of ISIS 721744 on the quality and pattern of HAE attacks…
To evaluate the efficacy and pharmacodynamics (PD) of ELX/TEZ/IVA
The aim of this study is to investigate the effect of low-dose Lithium on stem cell dynamics, the number and size of polyps and, to assess safety outcomes of this drug in FAP patients.
Our main goal is to develop an in vitro model to investigate the function of wildtype and mutant KDM2B in neuronal development. We want to use this model to investigate genotype-phenotype correlations, elucidate isoform expression in neuronal…
The main objective is to identify the optimal management for patients with an asymptomatic CPAM, based on functional outcome measures. Furthermore, the primary objective is to stratify asymptomatic CPAM patients into a low and high risk group for…
We aim to further explore the role of decreased activity and stability of PK in several types of hereditary hemolytic anemia and non-regenerative anemia. Moreover, we will study the effect of restoring this instability using second generation (…
Primary objectives:To prospectively assess longitudinal changes in Proteolipid Protein 1 (PLP1) and additional disease-related biomarkers in cerebral spinal fluid (CSF) and blood and evaluate their utility in support of the development of therapies…
To examine the determinants of survival of donor RBCs in SCD patientsTo look into the effect of transfusion on the innate immune system of sickle cell patients, in particular, the phenotype of the neutrophils.
With this study, we aim to gain insight in the influence of dietary oxalate on urinary oxalate levels by quantification of the intestinal oxalate absorption in patients with recurrent idiopathic calcium oxalate stones, primary hyperoxaluria, and…
The aim of this exploratory study is to compare the effect of a lifestyle intervention program consisting of combined individual coaching and group sessions (CLI) with a lifestyle intervention program with individual coaching only (II).The program…
Connection Interrupted: Genetic causes and clinical characteristics of hereditary optic neuropathies
The goal of this study is to identify the genetic causes underlying hereditary optic neuropathies and establish genotype-phenotype correlations. This will lead to more reliable prognosis predictions, better genetic counselling and hopefully form a…