64 results
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
The purpose of this study is to compare two different braces in idiopatic scoliosis, by means of body brace interface pressure measurements and conventional spinal x-rays (anterior-posterior).
To evaluate the two procedures for lengthening of the mandible.
- To gather long-term data on the safety and tolerability of idebenone inFriedreich*s Ataxia- To explore the effect of idebenone after longer term administration onneurological symptoms and signs as assessed by the InternationalCooperative Ataxia…
Objective of the study is to evaluate the long term results of the interventions of the above mentioned deformities.
The objectives of this study are to gain more insight in the efficacy of splinting therapy for correction of the anatomy and answering the followig questions:1.What are the effects of conservative splinting therapy in children with congenital hand…
The aim of this study is to determine the feasibility and energy expenditure of adults with a spastic bilateral CP playing Wii-Sports.
The goal of this study is to answer the following questions:1. Is the chance of detecting mtDNA mutations in blood or urine sediment as high as in a (much more invasive) skeletal muscle biopsy sample?2. What is the prevalence of renal failure in…
Long term follow up is lacking in this database. A follow up study in which patients in the database are invited to a follow up exam and imaging would be a much more complete picture of the development of TLK in achondroplasten.
- To determine the long-term results of Salter pelvic osteotomies.- To determine the differences in outcome between an open reduction at a relatively young age and an open reduction at the time of the pelvic osteotomy.
The primary objective is to describe the clinical characteristics of infantile FSHD. The secondary objectives are: - To determine the incidence and prevalence of infantile FSHD- To describe the genetic characteristics of infantile FSHD. - To…
To investigate if difference in fiber type and/or oxygen supply are the underlying cause for the difference in PCr recovery along the length of the tibialis anterior muscle.
Primary Objective: Further delineation of the natural history and phenotype/genotype relation of vEDS pateints with a heterozygous pathogenic variant in the COL3A1 gene. Secondary Objectives: 1. reasons for referral for genetic analysis; 2. all…
- to compare the skeletal phenotypes of each OI-type obtained at the standard scan region (i.e. using the fixed offset distance) with a recently published sex- and site-specific normative dataset of a general adult population, obtained with the same…
The primary objective of this study is to further discribe the natural course and clinical characteristic of infantile FSHD.The secondary objectives are: - To identify (epi)genetic and environmental disease modifying factors that contribute to…
To test if tamoxifen treatment, compared to placebo, reduces the progression of the disease in 6.5-12 years old ambulant DMD patients by at least 50% (using the MFM D1 subscore as primary clinical endpoint in group A patients).To test if tamoxifen…
This study has been transitioned to CTIS with ID 2023-506739-14-00 check the CTIS register for the current data. Primary ObjectivesThe primary objectives of this study are as follows:• To evaluate the safety and tolerability of risdiplam.• To…
To describe and investigate safety and tolerability of the intradermal delivery of two fractional doses of 20 µg mRNA-1273 in patients with Fibrodysplasia Ossificans Progressiva.To compare the immunogenicity of patients with FOP after intradermal…
In this study we will investigate how quickly and to what extent the new compound IPN60130 is absorbed, transported, and eliminated from the body (this is called pharmacokinetics). IPN60130 is radioactively labelled with carbon-14 (14C). In this way…
1) Improving the (physical) daily functioning of children with HCTD2) Testing feasibility of intervention for child / parents and therapists