Clinical trials: Metabolism, Inborn Errors
Primary Hyperoxaluria
Phase 2/3 Oxabact Study
The purpose of this study is to determine if Oxalobacter formigenes is effective at lowering urinary oxalate levels in patients with primary hyperoxaluria.
- Trial name
- NCT01037231
- Testing
- Oxalobacter formigenes
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- OxThera
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
Metabolic Syndrome, Familial Hypertriglyceridemia
Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism
The purpose of this study is to determine whether chenodeoxycholic acid decreases de novo hepatic lipogenesis, hepatic fat content, hepatic triglyceride production and plasma triglyceride concentrations and improves hepatic…
- Conditions
- Metabolic Syndrome, Familial Hypertriglyceridemia, Familial Combined Hyperlipidemia
- Trial name
- NCT00465751
- Testing
- chenodeoxycholic acid
- Where
- Switzerland
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Vivax Malaria, G6PD Deficiency
Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in G6PD Deficient Patients
A clinical study to assess the safety and efficacy of alternative regimens of primaquine for radical cure of vivax malaria in glucose 6-phosphate dehydrogenase (G6PD) deficient. G6PD deficient patients with P.
- Trial name
- NCT03529396
- Testing
- Chloroquine, Primaquine
- Where
- 2 sites in Brazil
- Volunteers
- 106 people
- Sponsor
- Fundação de Medicina Tropical Dr. Heitor Vieira Dourado
Hyperuricemia, Gout
Safety and Efficacy Study of MBX-102 in Treatment of Hyperuricemia in Patients With Gout
The purpose of the study is to evaluate the safety and effectiveness of MBX-102 compared to placebo when given orally once daily for 4 weeks for the treatment of hyperuricemia in patients with gout.
- Trial name
- NCT01336686
- Testing
- Arhalofenate, Colchicine
- Where
- 12 sites in United States
- Volunteers
- 67 people
- Sponsor
- Gilead Sciences
Cytomegalovirus Retinitis, HIV Infections
A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy
AMENDED: 04-12-91 Population of patients changed FROM those who are intolerant of systemic therapy with NON-sight-threatening CMV retinitis TO those AIDS patients intolerant of systemic therapy with CMV retinitis.
- Trial name
- NCT00000673
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 38 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Homozygous Familial Hypercholesterolemia
A Study to Evaluate Safety and Efficacy of IBI306, a PCSK9 Monoclonal Antibody in Chinese Subjects With Homozygous Familial Hypercholesterolemia
A study to evaluate safety and efficacy of IBI306 in subjects with homozygous familial hypercholesterolemia.
- Trial name
- NCT04031742
- Testing
- IBI306
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Innovent Biologics (Suzhou) Co. Ltd.
Pompe's Disease
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue.
- Trial name
- POPS (NCT00830583)
- Testing
- blood test
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Gout, Hyperuricemia
The Effect of Colchicine on the Pharmacokinetic Profile of LC350189 in Healthy Aldults.
This is a Phase 1, open-label, fixed-sequence, 3-period, 2-way drug interaction study designed to assess the PK, PD, safety, and tolerability of LC350189 and colchicine when administered alone and in combination in healthy…
- Trial name
- NCT03927677
- Testing
- Xanthine Oxidase Inhibitor
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- LG Chem
Healthy
Bioequivalence Study of Terbinafine Hydrochloride Tablets, 250 mg of Dr. Reddy's Under Fed Conditions
The purpose of this study is to compare the rate and extent of absorption of terbinafine hydrochloride 250 mg tablets versus Lamisil® 250 mg tablets administered as 1 x 250 mg tablet under fed conditions.
- Trial name
- NCT01286701
- Testing
- Terbinafine Hydrochloride Tablets, 250 mg
- Where
- Canada
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Metachromatic Leukodystrophy
Single Patient Expanded Access Protocol: Metabolic Boost
This is a single patient expanded access protocol to investigate the effects of a second dose of facilitating cell-enhanced hematopoietic stem cell product.
- Trial name
- Boost (NCT02021266)
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Smith-Lemli-Opitz Syndrome
SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
- Trial name
- NCT01434745
- Testing
- Simvastatin, Lactose
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
Gaucher Disease
Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease
The primary purpose of this study is to evaluate the effect of VPRIV therapy (60 units per kilogram [U/kg] every other week [EOW]) in treatment-naive participants with type 1 Gaucher disease on change from baseline in lumbar…
- Trial name
- NCT02574286
- Testing
- Velaglucerase alfa, Vitamin D
- Where
- 15 sites in United States, Israel and 2 more
- Volunteers
- 21 people
- Sponsor
- Shire
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Epiretinal Membrane
Epiretinal Membrane in Patients With DR.
To report the prevalence of ERM among patients with diabetic retinopathy, and the possible associated risk factors.
- Trial name
- NCT07241845
- Testing
- OCT
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Assiut University
Gaucher Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang
Left Ventricular Hypertrophy
Frequency of Cardiac Amyloidosis in the Caribbean's. (TEAM Amylose)
The frequency of cardiac amyloidosis among patients presenting with a so-called left ventricular hypertrophy remains unknown. This problem is especially relevant in the Caribbean's, where an amyloidosis-prone mutation of…
- Trial name
- NCT03322319
- Testing
- Tissue biopsies
- Where
- 2 sites in Guadeloupe, Martinique
- Volunteers
- 175 people
- Sponsor
- University Hospital Center of Martinique
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