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Plasma oxalate and glycolate levels in patients with chronic kidney disease (CKD stage 4 and 5).

The aim of this study is to establish reference values for plasma oxalate and plasma glycolate levels in patients with chronic kidney insufficiency. Values in patients with PH and secondary hyperoxaluria will be compared to values measured in…

A Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants with Hunter Syndrome

This study has been transitioned to CTIS with ID 2023-508619-22-00 check the CTIS register for the current data. The primary objective of the study is the following:• To characterize the safety and tolerability of DNL310 in pediatric subjects with…

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…

A PROSPECTIVE, LONGITUDINAL STUDY OF POTENTIAL TREATMENT-RESPONSIVE BIOMARKERS AND CLINICAL OUTCOMES IN HUNTER SYNDROME

The objective of this study is to identify and develop laboratory measurements and other tests that may help develop treatments for Hunter Syndrome and, potentially, related diseases. The information learned from this study may also help doctors,…

Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease

3.1 Primary ObjectiveTo evaluate the safety and tolerability of a single IV dose of SPK-3006 administered at escalating dose levels to participants with clinically moderate LOPD.3.2 Secondary ObjectivesTo evaluate potential efficacy and bioactivity…

Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid

This study has been transitioned to CTIS with ID 2024-519705-36-00 check the CTIS register for the current data. The primary objective will be to investigate if a two-year course of TPTD followed by antiresorptive treatment with a single infusion of…

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA*APOCIII*LRX Administered Subcutaneously to Patients with Familial Chylomicronemia Syndrome (FCS)

Primary objectiveTo evaluate the efficacy of ISIS 678354 as compared to placebo on the percent change in fasting triglycerides (TG) from BaselineSecondary objectives• Proportion of patients who achieve >= 40% reduction in fasting TG from…

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…

Transcranial Alternating Current Stimulation (tACS) as a novel treatment option: a proof of concept study in Adult Classic Galactosemia

Main objective: We propose a proof of concept study to apply noninvasive brain stimulation, specifically tACS, for the first time to adult CG patients with the aim to find stimulation protocols that improve their motor and language performance by…

Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects

This study has been transitioned to CTIS with ID 2024-518652-23-00 check the CTIS register for the current data. Investigating the long-term safety of personalized cholic acid treatment in patients with defects in bile acid synthesis based on…