Clinical trials: Metabolism, Inborn Errors
Mucopolysaccharidosis II
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
A Phase II open-label, parallel group, 2 sites (Brazil), designed to evaluate the long term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT03708965
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 19 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Atherosclerotic Cardiovascular Disease, Symptomatic Atherosclerosis
An Extension Trial of Inclisiran in Participants With Cardiovascular Disease and High Cholesterol
This clinical study was designed to assess the efficacy, safety, and tolerability of long-term dosing of inclisiran and evolocumab given as subcutaneous injections in participants with high cardiovascular risk and elevated…
- Conditions
- Atherosclerotic Cardiovascular Disease, Symptomatic Atherosclerosis, Type2 Diabetes, Familial Hypercholesterolemia
- Trial name
- ORION-3 (NCT03060577)
- Testing
- Inclisiran, Evolocumab
- Where
- 52 sites in United States, Canada and 3 more
- Volunteers
- 382 people
- Sponsor
- Novartis Pharmaceuticals
Cardiac Amyloidosis
PET Imaging With [18F]Fluselenamyl in People With Cardiac Amyloidosis
This observational study will evaluate the imaging performance of the investigational positron emission tomography (PET) radiotracer[18F]Fluselenamyl (FSA) in individuals with cardiac amyloidosis.
- Trial name
- FSA-CA (NCT07771621)
- Testing
- [18F]Fluselenamyl (FSA)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Washington University School of Medicine
Hyperlipoproteinemia Type III
Type III Dysbetalipoproteinemia
Evaluation of the efficacy of rosuvastatin 10mg, rosuvastatin 20mg and pravastatin 40mg in subjects with dysbetalipoproteinemia.
- Trial name
- NCT00214604
- Testing
- Rosuvastatin, pravastatin
- Where
- 2 sites in Norway, South Africa
- Volunteers
- 30 people
- Sponsor
- AstraZeneca
Gout Flares
A Proof-of-Concept Study of AC-201 to Prevent Gout Flares
Initiation of ULT for gout increases the occurrence of acute gouty arthritis flares due to mobilization of urate from tissue deposits. IL-1β plays a key role in mediating the inflammatory response in gouty arthritis.
- Trial name
- NCT01712204
- Testing
- AC-201, Febuxostat
- Where
- Taiwan
- Volunteers
- 82 people
- Sponsor
- TWi Biotechnology, Inc.
X-linked Hypophosphatemia (XLH)
Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Paediatric Patients from Birth to Less than 1 Year of Age with X-linked Hypophosphatemia…
- Trial name
- NCT04188964
- Testing
- Burosumab
- Where
- 9 sites in Austria, France and 4 more
- Volunteers
- 16 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Left Ventricular Hypertrophy
Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy
The purpose of this study is to determine the prevalence of Fabry mutations in patients with left ventricular hypertrophy (moderate to severe), as measured by echocardiography.This study is a screening study
- Trial name
- NCT01198899
- Testing
- blood sampling
- Where
- 9 sites in Belgium
- Volunteers
- 540 people
- Sponsor
- University Hospital, Ghent
Homozygous Familial Hypercholesterolemia (HoFH)
A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
The purpose of the study is to establish the efficacy, safety and tolerability of rosuvastatin in children and adolescents with homozygous familial hypercholesterolemia.
- Trial name
- HYDRA (NCT02226198)
- Testing
- Rosuvastatin 20mg
- Where
- 9 sites in Belgium, Canada and 5 more
- Volunteers
- 20 people
- Sponsor
- AstraZeneca
Familial Partial Lipodystrophy Type 2
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
Familial partial lipodystrophic syndromes are characterized by an increase in visceral adipose tissue and an atrophy of subcutaneous adipose tissue.
- Trial name
- LIPOCORT (NCT04845165)
- Testing
- Biopsy
- Where
- France
- Volunteers
- 25 people
- Sponsor
- University Hospital, Lille
Epilepsy, Metabolic Acidosis
Use of Sodium Bicarbonate in Patients Treated With Topiramate
Effect of oral sodium bicarbonate therapy on renal tubular acidosis in epilepsy patients taking topiramate.
- Conditions
- Epilepsy, Metabolic Acidosis, Tubular Acidosis; Renal
- Trial name
- NCT03354507
- Testing
- Sodium bicarbonate
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- McMaster Children's Hospital
Fabry Disease
Evaluate the Safety and Exploratory Efficacy of GC1119
The purpose of this study is to evaluate the safety and exploratory efficacy of GC1119 (recombinant human α-galactosidase A) for enzyme replacement therapy in Fabry disease patients.
- Trial name
- NCT01653444
- Testing
- GC1119
- Where
- 3 sites in South Korea
- Volunteers
- 8 people
- Sponsor
- Green Cross Corporation
Inborn Errors of Metabolism, Epilepsy (Treatment Refractory)
Metabolites in Blood and Breath in Metabolic Conditions
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood…
- Trial name
- NCT07704606
- Testing
- Observational Study
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Homozygous Familial Hypercholesterolemia, HoFH
HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia
Assess the effect on coronary atheroma of serial infusions of autologous selectively delipidated HDL/preβ enriched plasma following use of HDL Therapeutics PDS-2™ System
- Trial name
- NCT03135184
- Testing
- HDL Therapeutics PDS-2 System
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- HDL Therapeutics
Metabolic Diseases
Hepatocyte Transplantation for Liver Based Metabolic Disorders
The purpose of this research study is to determine whether partial irradiation of the liver and liver cell transplantation can provide help for patients with life-threatening liver-based metabolic diseases who are unlikely to…
- Trial name
- NCT01345578
- Testing
- human hepatocyte transplantation, Preparative Radiation Therapy
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ira Fox
Phenylketonuria
Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
This multicenter, open label study is designed to evaluate the safety of Kuvan® and its effect on neurocognitive function, blood Phe concentration, and growth in children with PKU who are 0-6 years old.
- Trial name
- PKU-015 (NCT00838435)
- Testing
- sapropterin dihydrochloride
- Where
- 19 sites in United States, Canada
- Volunteers
- 95 people
- Sponsor
- BioMarin Pharmaceutical
Gout
Study of Safety, PK, and Efficacy of Multiple Ascending Doses of HZBio1 in Patients With Gout
Study YDHY (HZBio1)-001 (Ib/Ⅱ) is an open-label, dose-escalation and expansion, multicenter Phase Ib/II clinical trial conducted in China.
- Trial name
- NCT07752810
- Testing
- Phase 1b: HZBio1 3mg, Phase 1b: HZBio1 6mg, Phase 1b: HZBio1 12mg
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Hangzhou Grand Biologic Pharmaceutical, Inc.
Pseudohermaphroditism, Congenital Adrenal Hyperplasia
Mutation Analysis of 17α-Hydroxylase
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
- Conditions
- Pseudohermaphroditism, Congenital Adrenal Hyperplasia, Hypertension
- Trial name
- NCT00172510
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 25 people
- Sponsor
- National Taiwan University Hospital
Wilson Disease, Liver Failure
Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease-related Liver Failure
This study is to investigate the clinical efficacy of artificial liver support system using combination of plasma exchange and continuous hemodiafiltration in treatment of Wilson's Disease - related liver failure.
- Trial name
- NCT03589820
- Testing
- artificial liver support system
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Third Affiliated Hospital, Sun Yat-Sen University
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
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