Clinical trials: Metabolism, Inborn Errors
Acute Gouty Arthritis, Gout Flare
Safety and Efficacy of ABP-745 in Participants With an Acute Gout Flare
A randomized, double-blind, international multicenter, colchicine and placebo-controlled study to evaluate the efficacy and safety of ABP-745 in subjects with acute gout.
- Conditions
- Acute Gouty Arthritis, Gout Flare, Gout Flares, Acute Gout Flare
- Trial name
- NCT07145229
- Testing
- ABP-745 Dose A, ABP-745 Dose B, Colchicine
- Where
- 38 sites in United States, Australia and 1 more
- Volunteers
- 479 people
- Sponsor
- Atom Therapeutics Co., Ltd
Pompe Disease
Extension Study for Patients Who Have Participated in a BMN 701 Study
This is a Phase 2 open-label, multiple dose study of BMN 701 administered by IV infusion every 2 weeks (qow) to patients with late-onset Pompe disease.
- Trial name
- NCT01435772
- Testing
- BMN 701
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- BioMarin Pharmaceutical
Primary Hyperoxaluria
Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1
The purpose of this study is to provide expanded access to lumasiran for adults and pediatric patients with Primary Hyperoxaluria Type 1 (PH1),
- Trial name
- NCT04125472
- Testing
- Lumasiran
- Sponsor
- Alnylam Pharmaceuticals
Gout
Safety and Efficacy of Oral Febuxostat in Subjects With Gout
The purpose of this study is to compare febuxostat allopurinol in subjects with gout.
- Trial name
- NCT02082769
- Testing
- Febuxostat, Allopurinol
- Volunteers
- 504 people
- Sponsor
- Xijing Hospital
Hyperuricemia, Gout
Open Label Safety/Efficacy Study of Arhalofenate in Combination With Febuxostat for Hyperuricemia in Gout Patients
The purpose of this study is to determine whether arhalofenate is safe and effective when dosed in combination with febuxostat in lowering serum uric acid in patients with gout.
- Trial name
- NCT01416402
- Testing
- Arhalofenate, Febuxostat, Colchicine
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Gilead Sciences
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
Amyloidosis
Impact of a Cardiac Rehabilitation Program on Patients With Cardiac Amyloidosis
The goal of this clinical trial is to learn if a structured cardiac rehabilitation program can help people with cardiac amyloidosis improve their ability to exercise and their quality of life.
- Trial name
- RECARDA (NCT07494942)
- Testing
- Cardiac Rehabilitation Program
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Montpellier
Pelizaeus-Merzbacher Disease, PMD
Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)
The purpose of this study is to determine the long term safety and preliminary effect of HuCNS-SC cells transplanted in subjects with Connatal Pelizaeus-Merzbacher Disease (PMD).
- Trial name
- NCT01391637
- Testing
- HuCNS-SC transplant in the lead-in phase
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- StemCells, Inc.
Acne Vulgaris
Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency
The purpose of this study is to gather more information about the safety of ACZONE Gel, 5% in treating subjects with acne who have certain blood disorders.
- Trial name
- NCT00243542
- Testing
- ACZONE Gel, 5%, Vehicle
- Where
- 29 sites in United States
- Volunteers
- 64 people
- Sponsor
- Allergan
Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate…
- Trial name
- NCT00004356
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Phenylketonuria
SNAP: Study Nutrients in Adult PKU
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cardiac Amyloidosis
Cardiac Uptake of 18F Florbetapir in Patients Undergoing Chemotherapy
This is a pilot study designed to assess for relative change in cardiac 18F Florbetapir uptake in patients with AL cardiac amyloidosis after appropriate chemotherapy.
- Trial name
- NCT03333551
- Testing
- F18 Florbetapir (amyvid) cardiac PET/CT imaging
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Medical College of Wisconsin
HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease
Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes
This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes…
- Conditions
- HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease, Cardiac Magnetic Resonance Imaging, Amyloid Cardiomyopathy
- Trial name
- MyoPerf-HCM (NCT07382128)
- Where
- Italy
- Volunteers
- 250 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
A prospective, randomized, double-blind, placebo controlled therapeutic study in participants with confirmed diagnosis of Niemann-Pick disease type C (NPC).
- Trial name
- NCT02612129
- Testing
- arimoclomol
- Where
- 14 sites in United States, Denmark and 7 more
- Volunteers
- 50 people
- Sponsor
- ZevraDenmark
Wilson Disease
A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease
The assumption is that in some of the carriers, the increase in enzymes reflects tissue damage due to excess copper. The reduction of the amount of copper absorbed will decrease excess copper in the liver, which will result in a…
- Trial name
- NCT03659331
- Testing
- Zinc
- Volunteers
- 50 people
- Sponsor
- Prof. Elon Pras
Wilson's Disease and COVID-19
Impact of the Lockdown Due to the COVID Pandemic in French Wilson's Disease Patients
Wilson's disease is a rare genetic disorder that causes copper to build up in the body. This overload is initially localized in the liver and the brain, but can spread throughout the body and cause systemic damage if copper…
- Trial name
- WILL-Ecco (NCT05004701)
- Where
- France
- Volunteers
- 120 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
This is phase 2/3 study to evaluate the safety, pharmacokinetics, pharmacodynamics, and efficacy of the investigational product GNR-055 in MPS II (Hunter syndrome) patients of different age groups.
- Trial name
- NCT05208281
- Testing
- GNR-055 1.0-2.0-3.0 mg/kg, GNR-055 2.0 mg/kg, GNR-055 3.0 mg/kg
- Where
- 5 sites in Russia
- Volunteers
- 32 people
- Sponsor
- AO GENERIUM
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