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Effect of dietary suppletion with genestein in patients with the MPS III

The objective of the study is to establish the effect of genestein in patients with MPS III on urinary and serum GAGs levels, hair morphology, GAG accumulation in skinbiopsy, cognitive functions and behavior (Piotrowska et al, 2008).MPS III is a…

A Phase 2/3, double-blind, randomized, placebo-controlled, multi-center study to evaluate the efficacy and safety of OxabactTM to reduce urinary oxalate in subjects with Primary Hyperoxaluria.

Primary Objective:To evaluate the efficacy of OxabactTM to reduce urinary oxalate levels (molar oxalate to creatinine ratio) from Baseline to Week 24 in subjects with Primary Hyperoxaluria (PH).Secondary Objectives- To evaluate the safety of…

An Open-label (OL) Extension Study evaluating the Long-Term Safety of OxabactTM in Subjects with Primary Hyperoxaluria (PH) who participated in the Double-Blind (DB) Efficacy Study

Primary Objective:To evaluate the Safety of OxabactTM with continued exposure.Secondary Objectives:To obtain additional efficacy data with up to 48 weeks continuous exposure to Oxabact*.

Effects of short term increase of phenylalanine levels
on neuropsychological functions and well-being
in adults with phenylketonuria: the *diet for life* study

To evaluate the effects of short term supplementation of Phe to levels comparable to levels observed in adult patients who fully discontinued their diet on neuropsychological functions and wellbeing of adult patients with PKU.

Observational prospective study to evaluate the efficacy of Vitamin K Intravenously on the coagulopathy in patients with peroxisomal biogenesis disorders (PBD)

Primary objective: To evaluate the effect of intravenous vitamin K therapy on the vitamin K dependent coagulopathy in patients with peroxisomal biogenesis disorders measured with APTT, PT, FV, FVII, fibrinogen, d-dimer, thrombocytes and PIVKA.…

A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects with Mucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the human ARSB gene to Liver.

Primary safety objective: To evaluate the safety of systemic intravenous administration of the Investigational Medicinal Product (IMP) in pediatric and adult MPS VI patients.Primary efficacy objective: To investigate the efficacy of the IMP through…

KetoEasy meal plan for Ketogenic Diet Therapy in children 2-12 years with parmacoresistant epilepsy

Primary Objective: To evaluate whether KDT application as the KetoEasy meal plan induces ketosis and leads to seizure reduction in children 2-12 years with refractory epilepsy.Secondary Objective(s): To evaluate-Feasibility: application in daily…

Effectiveness of methylphenidate in adults with phenylketonuria and attention-deficit/hyperactivity disorder: An N-of-1 series

Primary Objective: To determine the effectiveness of methylphenidate in reduction of ADHD symptomatology, operationalized by personalized goals that are important to the patient and its environment, in individuals with late-diagnosed PKU. Secondary…

An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria

This study has been transitioned to CTIS with ID 2024-512260-54-00 check the CTIS register for the current data. PrimaryTo evaluate the effect of DCR PHXC on estimated glomerular filtration rate (eGFR) in participants with PH1Secondary:To identify…

An open-label, multicenter, multinational extension study of the long-term safety and pharmacokinetics of repeated biweekly infusions of neoGAA in patients with Pompe disease

Long-term safety and pharmacokinetics (PK) of neoGAA

KETOMY: trail, Safety, efficacy and feasibility of ketogenic diet in mitochondrial myopathy,

Objective: Our proposed pilot study explores the safety, feasibility and efficacy of ketogenic diet in adults with mitochondrial myopathy to improve exercise intolerence and look for biomarkers that might predict patient response to the MAD…

Oxytocin treatment in neonates and infants aged from 0 to 3 months with prader-willi syndrome: a study of the safety and efficacy on oral and social skills and, feeding behavior of intranasal administrations of oxytocin vs. placebo (phase iii clinical trial)

The primary objective is to demonstrate the superiority versus placebo of a 4 weeks intranasal OT administration on oral skills assessed by the Neonatal Oral-Motor Assessment Scale (NOMAS) in infants with PWS aged less than or equal to 3 months at…

Short-term safety and efficacy of ketohexokinase inhibition in patients with hereditary fructose intolerance

To study the effects of PF-06835919 on fructose tolerance and intrahepatic lipid content in patients with HFI.

Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study

This study has been transitioned to CTIS with ID 2023-510278-14-00 check the CTIS register for the current data. Primary Objective:In all jurisdictions except the United States (US), the primary objective is to evaluate the efficacy of N-Acetyl-L-…

A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) with a Crossover to Open-Label Once Weekly Setmelanotide in Patients with Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation

Primary: To compare the pharmacokinetics (PK) of the once daily (QD) and once weekly (QW) formulations of setmelanotideSecondary Objectives:To assess the safety of the QW formulation of setmelanotide with up to 6 months (26 weeks) of drug…

A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy

This study has been transitioned to CTIS with ID 2023-509715-91-00 check the CTIS register for the current data. Primary:•To compare the effect of venglustat with standard of care Fabry therapies on left ventricular mass index over 18 months in…

A Phase 1 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate
the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a
Single Dose of DCR-PHXC in Patients with Primary Hyperoxaluria Type 3

Primary objective:To evaluate the safety and tolerability of a single dose of DCR-PHXC in patients with PH3Secondary objectives:To characterize the plasma PK of a single dose of DCR-PHXC in patients with PH3To assess the efficacy of a single dose of…

A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria

Primary:To assess the efficacy of DCR-PHXC in reducing urinary oxalate burden in patients with PH (types 1 and 2)Key Secondary:To assess the efficacy of DCR-PHXC in reducing urinary oxalate burden over time in patients with PHSecondary:1. To…

Pharmacokinetic cross-over study of compounded chenodeoxycholic acid

To investigate the pharmacokinetics of hospital pharmacy compounded CDCA capsules, compared to the commercial alternative.

A phase III double-blind, randomized study to evaluate the long-term
efficacy and safety of Oxabact® in patients with primary hyperoxaluria

Primary:- To evaluate the efficacy of Oxabact® following 52 weeks treatment in patients with maintained kidney function but below the lower limit of the normal range (eGFR < 90 ml/min/1.73 m2) and a total plasma oxalate concentration &gt…