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Sleep problems in children with Angelman syndrome: the effect of a behavioral treatment.

Primary Objective:To evaluate the effect and sustainability over time of behavioural treatment for sleep problems in children with AS on the actual hours of sleep and sleep behaviour of the children.Secondary Objectives:To evaluate the effect and…

[LONGPDE10] Follow-up measurement of brain phosphodiesterase 10 A (PDE10A) enzyme levels in Huntington*s disease gene expansion carriers, 18 to 28 months after initial PET measurement in CHDIKI1201/PET-HD-PDE10A

The primary objective is to measure the longitudinal changes of PDE10A enzyme availability in the caudate, putamen, and globus pallidus of Huntington*s Disease Gene Expansion Carrier (HDGECs) by comparison of the follow-up and initial Positron…

Dietary treatment of children with Angelman Syndrome and refractory epilepsy

Primary objective: - 50% seizure reduction or more at 3 months of dietary treatment .Secondary objectives: -level of ketosis on KD and MAD.-number of patients maintaining >50% seizure reduction on MAD.-number of withdrawals (not able to…

A phase IIa, open-label study of two doses of GLPG1837 in subjects with cystic fibrosis and the S1251N mutation

Primary Objectives*To evaluate the safety and tolerability of multiple oral doses of GLPG1837 in subjects with CF and at least one copy of the S1251N mutation.Secondary Objectives*To assess changes in sweat chloride from baseline (Day 1) as the…

A comparative phase2 study assessing the efficacy of triheptanoin, an anaplerotic therapy in Huntington's Disease (HD)

The primary objective of TRIHEP 3 is to evaluate the efficacy of triheptanoin in (i) increasing the short term energy response in the metabolic profile of the brain of early affected HD patients, as captured by 31P-MRS, and (ii) slowing atrophy in…

Optical coherence tomography in non-syndromic craniosynostosis patients

The primary objective is to obtain OCT data for children aged 4 to 10 diagnosed with non-syndromic craniosynostosis and to compare these to the normal reference values.

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

Multi-center, Randomized, Open-label, Parallel-arm, Single-dose, Pharmacokinetic Study of rVIIa-FP (CSL689) in Subjects with Congenital Factor VII Deficiency

- to evaluate the FVIIa activity PK of 2 CSL689 dose levels in subjects with congenital FVII deficiency- to determine the PK characteristics of FVIIa activity of CSL689- to evaluate the safety and tolerability of intravenous administration of CSL689

A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Biodistribution, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

To evaluate the safety and tolerability of IV administration of SBC-103 in subjects with MPS lllB, Sanfilippo B.

National observational study to monitor the new guideline concerning treatment of atypical hemolytic uremic syndrome

Monitoring and evaluation of the Dutch guideline for treatment of aHUS in children and adults during two years.

A Multi-Center, Open-Label Study Evaluating the Safety, Tolerability, and
Efficacy of Pridopidine in Patients with Huntington's Disease

Primary Objective: The primary objective of this study is to evaluate safety and tolerability of pridopidine in patients with HD.Secondary Objectives: The secondary objectives of the study are to assess the effects of long-term, open-label dosing…

A Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 1 Study to Determine the Safety, Tolerability, Pharmacokinetics and Effect on Circulating Alpha-1 Antitrypsin Levels of ARC-AAT in Healthy Volunteer Subjects and in Patients with Alpha-1 Antitrypsin Deficiency (AATD)

The primary objective of the study is Study to determine the Safety, Tolerability, Pharmacokinetics and Effect on Circulating Alpha-1 Antitrypsin Levels of ARC-AAT in Patients with Alpha-1 Antitrypsin Deficiency (AATD)

APC & Behaviour

The above anounced studies suggest that some abnormalities in the Wnt pathway can be expected to affect development and function of the brain, potentially leading to recognizable behavioural phenotypes. Given the key role of APC in the Wnt pathway,…

Prospective comparative study between Deflux® and Vantris® for endoscopic treatment of vesico-ureteral reflux in children.

Primary Objective: The treatment result expressed as the proportion of successful treatments per treatment arm (successful = VUR <= grade 1 and/or no urinary-tract infections 6 months after the operation) does at least not show a significant…

Small bowel surveillance in patients with Peutz-Jeghers syndrome: comparing MR enteroclysis with double balloon enteroscopy.

The aim of this prospective study is 1) to evaluate the diagnostic efficacy of DBE in comparison to MRE as surveillance technique of the small-bowel in PJS patients, 2) to analyze patient burden and quality of life with DBE and MRE, and 3) to…

Determination whether the lack of functional AQP2 in kidneys of patients suffering from nephrogenic diabetes insipidus induces cyst formation

Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?

Cerebrovascular manifestations of Hereditary Hemorrhagic Telangiectasia: a look beyond AVMs | A study of the prevalence of structural brain changes in HHT and an assessment of the MR cerebrovascular reactivity of HHT patients

The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…

The effect of Ivacaftor in CF patients with a class III mutation

Primary objective is to objectively investigate the therapeutic potential of Ivacaftor in Dutch CF patients carrying a mutation associated with residual CFTR function. A secondary objective is to evaluate the correlations between individual…

A phase 3 prospective, uncontrolled, multicenter study evaluating pharmacokinetics, efficacy, safety, and immunogenicity of BAX 855 (PEGylated full-length Recombinant FVIII) in previously treated pediatric patients with severe hemophilia A

7.2 Primary ObjectiveThe primary objective is to assess the incidence of FVIII inhibitory antibodies(>=0.6 Bethesda units [BU] using the Nijmegen modification of the Bethesda assay).7.3 Secondary Objectives1. To evaluate the PK parameters of…

Long term results of the surgical treatment of bilateral undescended testis with special interest in the fertlity potential.

1. To assess the long term outcome of surgical treatment for bilateral undescended testes with special regard for the fertility potential. 2. In the past 2 different techniques have been used for orchidopexy (with or without involving of the tunica…