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AAV8-mediated Low Density Lipoprotein Receptor (LDLR) Gene Replacement in Subjects with Homozygous Familial Hypercholesterolemia (HoFH)

The primary objective will be to determine the safety of AAV8.TBG.hLDLR administration in this patient population. The secondary objective is to assess the efficacy of LDL-C reduction achieved with AAV8.TBG.hLDLR administration.

An exploratory matched case-control study to measure blood nutrient levels of adult PKU patients on a protein substitute.

The study*s main objective is to measure blood micro- and macronutrient and amino acid levels in adults with PKU on a protein substitute and compare with age- and sex-matched non-PKU comparison subjects.

An open-label, explorative, post launch, multicenter, multi-country intervention study of PKU Synergy (an amino-acid mixture) to evaluate change in nutrient intake in PKU subjects with an increased Phe-tolerance/intake.

The study*s main objectives are to investigate change in nutrient intake after a 24-week intervention with PKU Synergy in PKU subjects with an increased Phe-tolerance/intake and to evaluate product acceptability.

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…

Empowering children with mitochondrial myopathy in dealing with fatigue.

The PowerMe study will analyse fatigue characteristics and severity in children and adolescents with mitochondrial myopathy and their families. Then a blended personalized cognitive behaviour therapy program for fatigue will be designed and tested,…

An Open-Label, Single-Arm, Multicenter Pilot Study to Evaluate Safety, Tolerability, and Efficacy of ALN-PCSSC in Subjects with Homozygous Familial Hypercholesterolemia

PrimaryTo characterize the effect of 90 and 180 days of subcutaneous ALN-PCSSC on the percentage change from Day 1 inlow-density lipoprotein cholesterol (LDL-C) in subjects with homozygous familial hypercholesterolemiaSecondary* To assess the effect…

A Phase 1/2, Single-Blind, Placebo-Controlled, Single- and Multiple-Ascending Dose Safety, Tolerability, Pharmacokinetic and Pharmacodynamics Study of Subcutaneously Administered
ALN-GO1 in Healthy Adult Subjects, and Patients with Patients with Primary Hyperoxaluria Type 1

Primary* Evaluate the safety and tolerability of single- and multiple-ascending doses of ALN-GO1, respectively, in healthy adult subjects and in patients with PH1Secondary* Characterize the pharmacokinetics (PK) of ALN-GO1* Evaluate the…

A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment naïve Patients with Late-onset Pompe Disease

The overall objective of this study is to evaluate the efficacy and safety of neoGAA in treatment-naïve patients with LOPD as compared to alglucosidase alfa, when this is administered biweekly for a period of 49 weeks. Also, there is an open-label…

The phenylalanine eat or diet study: direct effects of high or low phenylalanine values on cognitive functioning in adults with PKU.

Primary objective: To accurately assess the direct functional consequences of high versus low phenylalanine levels in adult patients with PKU, using eye-hand coordination testing in tasks of different cognitive complexity. Secondary objective: To…