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Effectiveness of L-serine dietary supplementation in children with a GRIN2B loss-of-function mutation: n-of-1 series

Assess the potential efficay of L-serine dietary supplementation in patients children with a GRIN2B LoS mutation.

Dietary oxalate absorption and microbiome diversity in patients with nephrolithiasis and hyperoxaluria: a stable isotope technique.

With this study, we aim to gain insight in the influence of dietary oxalate on urinary oxalate levels by quantification of the intestinal oxalate absorption in patients with recurrent idiopathic calcium oxalate stones, primary hyperoxaluria, and…

An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged >= 5 years.

This study has been transitioned to CTIS with ID 2024-518215-18-00 check the CTIS register for the current data. To explore safety, tolerability and efficacy of avalglucosidase alfa in previously treated alglucosidase alfa late-onset Pompe disease…

A Proof of Concept, Phase IIa, Open Label Study to Evaluate the
Safety and Efficacy of Afamelanotide in Patients with Variegate
Porphyria (VP)-related skin disease.

Main objective: determine whether afamelanotide implants can reduce the severity of the skin disease in patients with VPSecondary objectives: Evaluate the safety and tolerability of afamelanotide in patients with VP. Evaluate the impact of…

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 678354 Administered Subcutaneously to Patients with Severe Hypertriglyceridemia

This study has been transitioned to CTIS with ID 2024-510696-38-00 check the CTIS register for the current data. Primary objective: To evaluate the efficacy of olezarsen as compared to placebo on the percent change in fasting triglycerides from…

Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series

This study has been transitioned to CTIS with ID 2024-514012-28-00 check the CTIS register for the current data. Assess the neurological efficacy of ambroxol in adults and children with GD3.

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial: Multiple Independent Sub-studies of Setmelanotide in Patients with POMC/PCSK1, LEPR, NCOA1 (SRC1) or SH2B1 Gene Variants in the Melanocortin-4 Receptor Pathway

This study has been transitioned to CTIS with ID 2023-507634-24-00 check the CTIS register for the current data. To evaluate the efficacy of setmelanotide on changes in body weight.

An Open-Label Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Bempedoic
Acid in Pediatric Patients (6 to 17 Years of Age) with Heterozygous Familial Hypercholesterolemia

This study has been transitioned to CTIS with ID 2024-515864-30-00 check the CTIS register for the current data. Primary Objectives:• To assess the pharmacokinetics (PK) of bempedoic acid (ETC-1002 and ESP15228) in pediatric patients (6 to 17 years…

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Patients 1 Year of Age and Over with GSD III.

The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric patients with GSD III. The secondary objective of this study is to evaluate the sensitivity of various muscle strength and function measures to…

An Open-Label Extension Study of AKCEA-APOCIII-LRX Administered Subcutaneously to Patients with Familial Chylomicronemia Syndrome (FCS)

This study has been transitioned to CTIS with ID 2023-509029-29-00 check the CTIS register for the current data. In this study, we look at how safe the new medicinal product ISIS 678354 is for the treatment of FCS. And how well it works.