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Intranasal administration of oxytocin in children with Prader-Willi Syndrome. A randomized, open-label, cross-over trial of different treatment regimens of oxytocin administration. Effects on eating behaviour and social behaviour.

To evaluate the effects of long-term intranasal oxytocin on social behaviour in children with PWS and to compare the effects of different doses and frequencies of oxytocin administration

Spinal Muscular Atrophy, SMN protein and Genetics; A population based study on spinal muscular atrophy in the Netherlands to explore the prevalence of SMA type 1-4 and their severity in the Netherlands by registrating all patients in a so called SMA-database, to elucidate the genetic factors determining disease severity and to determine the value of SMN protein concentrations as a surrogate marker for clinical trials.

The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…

Triple X syndrome in adults: cognitive, psychiatric and neuroanatomical profile

Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…

Cerebrovascular manifestations of vascular Amyloid deposition in HCHWA-D | An assessment of the cerebrovascular reactivity in Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) patients using Magnetic Resonance Imaging and transcranial Doppler.

The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…

Randomized, double-blind, placebo-controlled oxytocin trial in children with Prader-Willi syndrome.
Effects on social behaviour.

To evaluate the effects of intranasal oxytocin versus placebo on social behaviour and also on eating behaviour in children with PWS.

An outpatient phase 3 efficacy study of Ecopipam (PSYRX 101) in the symptomatic treatment of self-injurious behavior in subjects with Lesch-Nyhan disease.

The primary objective of this study is to assess the efficacy of Ecopipam to reduce self-injurious behaviors (SIB) in adults and children with Lesch-Nyhan Disease (LND) in an outpatient setting. The secondary objectives of this study are to assess…

Targeting Antibiotics to Pseudomonas Aeruginosa in Small airways (TAPAS) study in patients with cystic fibrosis: pharmacokinetics (PK)

Primary objective: To determine the safety of once daily inhalation of the recommended daily dose of tobramycin with the Akita® and the PARI-LC® Plus nebulizer in patients with CF. Systemic absorption can be used as surrogate parameter for safety.…

Brain Structure and Development in Children and Adolescents with Prader-Willi Syndrome: A Combined Structural and Functional MRI Study

We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…

Tobramycin nebulisation with I-neb (TONI) study in children with cystic fibrosis: pharmacokinetics and safety

Primary objective: To investigate whether pharmacokinetics of the recommended dose of inhaled tobramycin, defined as serum tobramycin Area Under the Curve (AUC0-24hr), with the I-neb (75 mg) is equivalent to the PariLCPlus (300 mg) nebuliser in…

Genetics of megacystis-microlon-intestinal hypoperistalsis syndrome

Identification of the underlying genes of MMIHS

Prevalence of bleeding disorders in women with menorrhagia

Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…

A Phase 1, Randomized, Double-Blind, Placebo Controlled, Single Dose Escalation Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of Migalastat Hydrochloride given Intravenously to Healthy Volunteers with an Open-Label, Randomized, Two-Way Crossover Arm

Primary Objectives:* To investigate the pharmacokinetics of migalastat following a single 2hr IV infusion in healthy subjects.* To investigate the safety and tolerability of a single migalastat HCl 2hr IV infusion in healthy subjects.Secondary…

Extreme Lipid Phenotypes in Autosomal Dominant Hypercholesterolemia: The ELePHANT Study

1) To investigate the underlying mechanisms of the variable ADH phenotypes in two extreme ADH populations. - Genetically homozygous patients with a phenotype resembling the phenotype encountered in heterozygous ADH patients. - Genetically…

A B2-agonist as a CFTR activator in CF

Primary objective of this pilot study is to evaluate the in vivo effect of a B2-agonists in CF patients with residual CFTR function, using dosages which are clinically used in patients with asthma. Secondary objective is to evaluate the difference…

Know Their Pain | Down Study 2011: Quantitative Sensory Testing and pain behaviour of subjects with Down*s syndrome compared to healthy controls

To compare discrimination ability for touch and temperature between subjects with Down*s syndrome and healthy controls. To compare thermal pain thresholds between subjects with Down*s syndrome and healthy controls

Identifying the gene causing Congenital Short Bowel Syndrome

Identification of the causative gene for CSBS.

BE-STRONG HCM:
Biomarkers, Exercise Stress Testing, and MRI to Obtain New InsiGhts in Hypertrophic CardioMyopathy

1) To demonstrate an elevated troponin concentration before exercise and a rise of troponin after exercise in both pre-clinical HCM mutation carriers and HCM patients with the hypertrophic phenotype, 2) To evaluate the troponin rise in relation to…

DNA testing for BRCA1/2 in breast cancer patients prior to genetic counseling: DNA-direct

Optimalisation of genetic counseling for patients with breast cancer, by also making use of other ways to provide information than the personal consultation.

Nipple sensitivity after prophylactic nipple-sparing mastectomy compared to healthy BRCA1/2 gene mutation carriers.

The aim of this study is to objectify nipple-areola complex sensitivity in women who underwent unilateral or bilateral prophylactic NSM in Erasmus MC-Daniel den Hoed Cancer Center and their satisfaction with this operation, compared to healthy women…

CFTR protein expression in cells from CF patients: correlation with clinical, functional, and inflammatory parameters.

Main objective is to assess CFTR protein expression in nasal epithelial cells and in different peripheral blood immune cell subsets from CF patients with different CFTR gene mutations. Secondary objective is to correlate these expression levels with…