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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 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…

Effectiveness of Eye Movement Desensitization and Reprocessing on Post Traumatic Stress Disorder in persons with mild intellectual disability and psychosis: A multiple baseline study

The main purpose of this study is to find out whether EMDR is a safe and effective treatment to reduce the symptoms of PTSD in people with mild intellectual disability and borderline intellectual functioning. In addition, it is expected to reduce…

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 Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase deficiency

The primary objective of this study is to evaluate the safety of sebelipase alfa in a more broad population of subjects with LAL Deficiency than have been previously studied.The secondary objectives of this study are (1) to evaluate effects of…

Ga-68-DOTA-(RGD)2 PET/CT: imaging angiogenesis in patients with low-flow vascular malformations

The primary objective of this study is to measure whether αvβ3 integrin expression and tracer uptake values of 68Ga-DOTA-(RGD)2 change in patients with (recurrent) low-flow vascular malformations after embolization therapy.

A B2-agonist as a CFTR activator in CF - Part 2

Primary objective of this study is to evaluate the clinical effect of a long term treatment (8 weeks) with oral B2-agonists in CF patients with residual CFTR function, especially on lung function (spirometry and airway resistance). Secondary…

Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial.

1. Normalization of the abnormal serum TH parameters and thereby improving the clinical condition of the AHDS patients2. Observation of changes in cognitive and motor function.

Modifying Orphan Disease Evaluation (MODE) Study: A multicenter, open-label study of the
effects of CER-001 on plaque volume in subjects with Homozygous Familial
Hypercholesterolemia

The purpose of the study is to assess the effects of CER-001, given by intravenous infusion with regards to plaque burden of the carotid arteries and the descending thoracic aorta using 3T magnetic resonance imaging (3TMRI).The objective of the…

A Multicenter, Open-label Study to Assess the Long-term Safety,
Tolerability, and Efficacy of AMG 145 on LDL-C in Subjects With Severe Familial
Hypercholesterolemia

Primary Objective: To characterize the safety and tolerability of long-term administration ofAMG 145 among subjects with severe familial hypercholesterolemia

Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects.

To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder

The effect of curcumin and genistein in CF patients with a class III mutation

Primary objective:To investigate the clinical response to treatment with curcumin and genistein in CF-patients with a class III S1251N mutation.. Secondary objectives:1.To evaluate the correlations between individual curcumin+genistein induced CFTR…

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…

Pilot study of everolimus in the treatment of advanced malignancies in patients with Peutz-Jeghers syndrome

To determine the efficacy (as measured by objective tumor response) of single agent everolimus in the treatment of advanced malignancies or high risk polyps of patients known with PJS .

The Pharmacokinetics of an oral uracil dose in patients with colorectal carcinoma.

To compare the pharmacokinetic profile of uracil in cancer patients and healthy volunteers

CER-001 Infusions in Subjects with Familial HDL-c Deficiency

Evaluate the effects of CER-001 - adminstered as iv infusion - on plaque size/burden in arteries, plaque inflammation in the artery wall and the rate of cholesterol transport in the body

An open-label study to evaluate the long-term safety and tolerability of AFQ056 in adolescent patients with Fragile X Syndrome

PrimaryTo evaluate the long-term safety and tolerability of AFQ056 in adolescent patients with FXS as assessed by:* Incidence and severity of adverse events and serious adverse events* Changes in vital signs, laboratory assessments, and ECGs*…

Evaluation of the oral uracil loading test as a sensitive, simple and cheap method to detect DPD deficiency.

The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency

A Phase 2a, Single-Center Study Investigating the Short-Term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects with Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function

The purpose of the trial is to determine the effect of multiple doses of tolvaptan on renal function in patients with autosomal dominant polycystic kidney disease (ADPKD) at various stages of renal function. Additionally, the short-term renal…