58 results
Main objectivePart A: To evaluate the safety and efficacy of treatment with VX-371, administered with and without 4.2% hypertonic saline (HS) in subjects with primary ciliary dyskinesia (PCD) who are *12 years of age.Part B: To evaluate the safety…
To demonstrate whether hydrochlorothiazide or metformin can diminish aquaresis in patients with ADPKD who are treated with tolvaptan as measured by 24-hour urine volume.
The main objective of this (pilot) study is to investigate the role of glutamate in cognitive functioning in adults with 22q11DS using a glutamatergic challenge (riluzole )and high-field MRS. We will relate glutamate concentrations in the striatum…
Primary objectives:To characterize the pharmacokinetics of the 300 mg trientine capsule with a fast dissolution profile.To assess the effect of dissolution rate on the pharmacokinetics of trientine.To assess the effect of food on the…
- To assess the pharmacokinetic profile of cysteamine base after single dose administration of the new sustained-release cysteamine bitartrate (PO-001) to healthy volunteers, in comparison with Cystagon® and Procysbi®.- To collect safety/…
The primary objective is to evaluate the effect of UDCA and ezetimibe on cholesterol elimination assessed as total faecal sterol concentration. Secondary objective is to assess the effect of UDCA and ezetimibe on plasma lipid profile/composition.
The primary purpose of the study is to investigate whether the new 20 mg capsule of Orfadin® (nitisinone) has a similar bioavailability in the body (gives the same concentration in the blood) as two of the marketed capsules of 10 mg. The secundary…
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…
to evaluate the effects of GH versus withdrawal of GH, after final height is reached, on weight, body composition, psychosocial functioning, carbohydrate metabolism, circulating lipids, and respiratory function during transition period until the age…
The purpose of this trial is primarily to assess the efficacy of inhaled mannitol compared with a true placebo in subjects with cystic fibrosis aged 6 to 17 years.We hypothesize that inhaled mannitol will improve the overall health and hygiene of…
Primary objective:To compare the change in small airways obstruction (FEF75%) in patients with CF when inhaling one ampule of inhaled tobramycin with the Akita® compared to standard of treatment (twice daily nebulization of one ampule using standard…
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 (…
To investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…
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
to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA.
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.…
We hypothesize that hypertonic saline nebulizations improve respiratory symptoms and quality of life in PCD patients.
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…
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…
To evaluate the effects of intranasal oxytocin compared to placebo administration on appetite, satiety and food intake.Also effects on social behavior, BMI, body composition, IGF-I levels and genetic differences (deletion / mUPD). To assess oxytocin…