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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…

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.

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)

Genomics of Persistent ADHD

To investigate the underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…

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…

Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum.

The main objective is to determine if bisphosphonate therapy with etidronate leads to stabilization or attenuation of ongoing calcification in the leg arteries as quantified by 18F-sodium fluoride(18F-NaF) PET-CT imaging in patients with PXE.…

The role of the pulmonary vasculature in the Fontan circulation

Primary Objectives:- Determine the effect of pulmonary vasodilatation on indexed cardiac output during simulated exercise.- Characterization of structural properties of small pulmonary arteries.Secondary Objectives: - Investigate the effect of…

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…

Semen analysis in males with IGSF1 deficiency syndrome

Primary objective: 1) To examine the effect of IGSF1 deficiency syndrome on semen quality when compared to WHO reference ranges;2) The comparison of semen quality of these patients to that of healthy controls.To investigate the association between…

SCN1A-related seizure disorders: prediction of clinical course based on advanced genotyping

The objective of the study is to investigate if it is possible to predict the clinical outcome of a patient with SCN1A related epilepsy based on the findings of advanced genotyping. We aim to answer the following questions:1. Can clinical outcome in…

Phenotype prediction in patients with X-linked adrenoleukodystrophy: a prospective study.

The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…

Influence of menarche and menstrual cycle on QTc interval in girls with genotype positive LQT1 and LQT2

Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).

The bilious bowel: the relation between bile and bowel in development of biliary atresia and liver fibrosis. An explorative study

To investigate the origin of BA we will assess which TLR(s) is/are activated. To test the hypothesis that during development of BA and associated liver fibrosis there is a *leaky gut* and/or a change in microbiome we will use human material to…

An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease.

Primary Objective(s): To evaluate long-term safety in patients with mucopolysaccharidosis type IIIA disease (MPS IIIA or Sanfilippo Type A) who received HGT-1410Secondary Objective(s):To evaluate:• The long-term cognitive function as measured by the…

A Phase 1, Randomized, Double blind, Placebo Controlled, Single and Multiple Dose Escalation Study Evaluating Safety and Pharmacokinetics of VX 152 Alone and in Combination with VX 661/Ivacaftor, and Bioavailability and Food Effect of VX 152 in Healthy Adult Subjects

The purpose of Part A is to investigate how safe the study compound VX-152 is and how well the study compound is tolerated. The study will also investigate how quickly and to what extent the compound is absorbed into and eliminated from the body (…

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Crossover Study to Evaluate the
Efficacy and Safety of Ivacaftor and VX-661 in Combination With Ivacaftor in Subjects Aged
12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation, and a
Second Allele With a CFTR Mutation Predicted to Have Residual Function

To evaluate the efficacy of VX-661 in combination with ivacaftor and ivacaftormonotherapy through 8 weeks of treatment in subjects with cystic fibrosis (CF)who are heterozygous for the F508del mutation on the CF transmembraneconductance regulator (…

HOMERUN
Initiation of HOme MEchanical ventilation at home in a selective group of patients with chronic hypercapnic Respiratory failUre in the Netherlands

Patients with chronic respiratory failure currently start their ventilatory support in hospital as stated in national guideline. However, as these patients are severely disabled, a stay at the hospital for several days is experienced by many as very…

A Phase 1, Randomized, Double-blind, Placebo-Controlled, Single- and Multiple-Dose Escalation Study Evaluating Safety and Pharmacokinetics of VX-440 Alone and in Combination with VX-661/Ivacaftor, and Bioavailability and Food Effect of VX-440 in Healthy Adult Subjects

The purpose of Part A is to investigate how safe the study compound VX-440 is and how well the study compound istolerated. The study will also investigate how quickly and to what extent the compound is absorbed into and eliminatedfrom the body (this…