Search for a trial

A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of High Doses of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping

This study has been transitioned to CTIS with ID 2024-511492-15-00 check the CTIS register for the current data. Part 1:to evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately…

Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK 015 in Patients with Later onset Spinal Muscular Atrophy (TOPAZ)

Objectives for both the Treatment Period and Extension Period:Primary Objectives: - To assess safety and tolerability of the study medicine in patients with later onset (e.g., Type 2 and Type 3) spinal muscular atrophy (SMA)- To assess the efficacy…

Ultrasound and magnetic resonance imaging to assess muscle contractile performance in FSHD.

Hoofddoel: We aim to assess the utility of ultrasound-defined contractile performance as a biomarker for monitoring disease progression and treatment effects in patients with FSHD.Stage I:Primary Objective:To establish the feasibility, optimal…

The use of MRI-scans to assess velopharyngeal insufficiency in cleft palate patients

The key objective of this study is to determine the clinical significance of using MRI scans as a diagnostic tool to assess velopharyngeal insufficiency in cleft palate patients.

Effectiveness of early use of the mechanical insufflation- exsufflation compared to air stacking to reduce respiratory tract infections in patients with Duchenne muscular dystrophy.

The aim of this study is to determine whether MI-E leads to a lower number of RTIs as compared to AS combined with MAC in DMD patients with a PECF< 270 l/min over a period of two years.

A study of the in-vitro thermal stability of the ryanodine receptor-1 in patients with RYR1 variants

The primary objective is to investigate the effect of a variant in RYR1 on the thermal stability of RyR-1. The secondary objective of the study is to investigate whether there is difference in clinical characteristics between patients with a…

Effects of Exercise in Children with a chronic illness: Inflammatory Bowel Disease

The study focuses on children and young people with IBD from 6-18 years old. These children have lower levels of physical activity and a limited endurance compared to healthy children. Through this research we want to improve the endurance of…

Genetic analysis of Café-au-Lait skin cells and their potential to develop into FD/MAS affected bones

Objectives: (1) To find out in which skin layer (epidermis or dermis) and which skin cell type the Gs* mutation resides.(2) To determine osteogenic transdifferentiation- and mineralization characteristics of osteogenic cells that result from…

Spinal Muscular Atrophy Randomized Controlled Trial on Cough Techniques
(Patient tailored airway clearance in patients with Spinal Muscular Atrophy: a randomized controlled trial comparing air stacking and mechanical insufflation-exsufflation.)

The aim of this study is to compare the effect of twice daily MI-E to twice daily AS with MAC on increase of PECF in patients with SMA with weak cough over a period of 3 years.

Patient-specific cutting blocks to improve tibial tubercle transfer surgery for patients with patellar instability

The primary goal of the current research is to determine the accuracy of the procedure using patient-specific cutting guide. Secondary endpoints are surgical time needed and the guides* fit onto the patients* tibia.

Musculoskeletal pain in adolescents with Generalized Joint Hypermobility in the context of activity impairment

To determine the contribution of musculoskeletal pain to activity limitations corrected for the impact biomechanical factors (joint biomechanics, proprioception, physical fitness) and psychological comorbidity. The secondary objective is to identify…