Clinical trials: Inborn Errors of Metabolism
Phenylketonuria
GenSci144 Tablets Phase I Clinical Trial
This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels.
- Trial name
- NCT07685210
- Testing
- GenSci144 tablets
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Gout, Hyperuricemia
The Diet Gout Trial
Unhealthy diet has long been associated with high uric acid levels and gout. The DASH diet may lower uric acid levels. This study will examine the effects of the DASH diet on uric acid in adults with a history of gout.
- Trial name
- DIGO (NCT03569020)
- Testing
- Subsidy for food purchases and dietitian education
- Where
- 2 sites in United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Gout and Hyperuricemia
PK Effects of SHR4640 on Repaglinide and Midazolam, and the Impact of SHR4640 on QT Interval
The purpose of this study is to evaluate the PK effects of SHR4640 tablets on repaglinide and midazolam, as well as the effects of SHR4640 tablets on the QT interval in healthy subjects.
- Trial name
- NCT06196580
- Testing
- repaglinide; midazolam; SHR4640
- Where
- China
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Functional Gastrointestinal Disorders, Lactose Intolerance
Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal Disorders
Background: The association of fructose and lactose intolerance and malabsorption with the symptoms of different functional gastrointestinal disorders (FGID) is unclear.
- Conditions
- Functional Gastrointestinal Disorders, Lactose Intolerance, Fructose Intolerance
- Trial name
- NCT02085889
- Testing
- no intervention: observational study
- Where
- Switzerland
- Volunteers
- 3,000 people
- Sponsor
- Brain-Gut Research Group
TTR-mediated Amyloidosis, Amyloidosis, Hereditary
APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis
The purpose of this study is to evaluate the safety and efficacy of patisiran (ALN-TTR02) in patients with transthyretin (TTR) mediated amyloidosis.
- Conditions
- TTR-mediated Amyloidosis, Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Familial Amyloid Polyneuropathies
- Trial name
- NCT01960348
- Testing
- patisiran (ALN-TTR02), Sterile Normal Saline (0.9% NaCl)
- Where
- 52 sites in United States, Argentina and 19 more
- Volunteers
- 225 people
- Sponsor
- Alnylam Pharmaceuticals
Gaucher Disease
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00478647
- Testing
- GA-GCB (velaglucerase alfa)
- Where
- 15 sites in United States, Israel and 3 more
- Volunteers
- 40 people
- Sponsor
- Shire
Hyperlipidemia; Mixed
Investigate the Effect of Ezetimibe, Simvastatin, and Omega 3- Fatty Acids on Dyslipidemia Patients: a Pharmacokinetics Based Study
This randomized controlled pharmacokinetic based study will be carried out on patients with both sexes and various ages, plasma triglycerides levels, clinical health disorders and using different agents for treatment of their…
- Trial name
- NCT05080140
- Testing
- Ezetimibe 10mg
- Where
- Egypt
- Volunteers
- 3 people
- Sponsor
- Misr University for Science and Technology
Gaucher Disease, Type 1, MRI
Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)
This study with standardized reading MRIs, will provide for the first time objective and quantified data on organomegaly (liver and spleen volumes) as well as bone alteration (Bone Marrow Burden11) of French patients treated with…
- Trial name
- EIROS (NCT03333447)
- Testing
- MRI
- Where
- France
- Volunteers
- 20 people
- Sponsor
- CEN Biotech
Hypercholesterolemia, Familial Hypercholesterolemia
A Study of the Efficacy and Safety of Enclitide Chloride (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-008)
The purpose of this study is to evaluate the efficacy and safety of enclitide chloride, an oral PCSK9 inhibitor, in lowering low-density lipoprotein cholesterol (LDL-C) in participants with hypercholesterolemia.
- Trial name
- NCT05261126
- Testing
- Enclitide Chloride
- Where
- 63 sites in United States, Germany and 6 more
- Volunteers
- 381 people
- Sponsor
- Merck Sharp & Dohme LLC
Gout, Hyperuricemia
Evaluate the PK, PD, and Safety of Arhalofenate in Combination With Febuxostat for Hyperuricemia in Patients With Gout
The purpose of this study is to evaluate pharmacokinetics, pharmacodynamics, safety and potential for drug-drug interaction of arhalofenate when combined with febuxostat in adult population with gout.
- Trial name
- NCT02252835
- Testing
- Arhalofenate, Febuxostat, Colchicine
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Gilead Sciences
Sly Syndrome, MPS VII
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans…
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02418455
- Testing
- UX003
- Where
- 5 sites in United States, Portugal and 1 more
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
MPS I
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I
The purpose of the study is to evaluate the safety, tolerability of ascending doses of SB-318. SB-318 is an intravenously delivered Zinc Finger Nuclease (ZFN) Therapeutic for genome editing.
- Trial name
- NCT02702115
- Testing
- SB-318
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Sangamo Therapeutics
Familial Hypercholesterolemia
Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018)
The primary objective of this study is to evaluate the efficacy and the safety of ezetimibe (SCH 58235) co-administered with either atorvastatin or simvastatin in participants with homozygous familial hypercholesterolemia (FH).
- Trial name
- NCT03884452
- Testing
- Atorvastatin, Simvastatin, Ezetimibe
- Volunteers
- 50 people
- Sponsor
- Organon and Co
Gaucher Disease Type 1
A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate…
- Trial name
- GD (NCT06818838)
- Testing
- LY-M001
- Where
- 3 sites in China
- Volunteers
- 12 people
- Sponsor
- Lingyi Biotech Co., Ltd.
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
- Trial name
- NCT03307304
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Malaria
Safety of Primaquine + Artemether-lumefantrine in G6PD Deficient Males With an Asymptomatic Malaria Infection (SAFEPRIM)
The purpose of this study is to evaluate the tolerability and safety of increasing doses of primaquine in combination with artemether-lumefantrine in G6PD deficient males with an asymptomatic P. falciparum malaria infection.
- Trial name
- NCT02174900
- Testing
- Artemether-Lumefantrine (AL) + 0.25 mg/kg primaquine, Artemether-Lumefantrine (AL) combination, Artemether-Lumefantrine (AL) + 0.4 mg/kg primaquine
- Where
- Burkina Faso
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- London School of Hygiene and Tropical Medicine
Low Vision, Retinitis Pigmentosa
Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision
Purpose: To validate a newly developed battery of performance-based tests of visual function to be presented using virtual reality.
- Conditions
- Low Vision, Retinitis Pigmentosa, Stargardt Disease 1, Stargardt Disease 3
- Trial name
- NCT04281732
- Testing
- Virtual Reality Headset based tests
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- Queen's University, Belfast
Pseudohypoparathyroidism, Growth Hormone Deficiency, Dwarfism
Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)
We have recently demonstrated resistance to GHRH leading to GH deficiency in patients with Pseudohypoparathyroidism type Ia (Mantovani et al., J Clin Endocrinol Metab, 2003. 88: 4070-4074).
- Trial name
- NCT00497484
- Testing
- recombinant human somatotropin
- Where
- Italy
- Sponsor
- University of Milan
Healthy, Hyperuricemia, Gout
Acute Effects of a Urate-lowering Bacterial Therapeutic on Small Intestinal Transcriptomics and Glycomics in Healthy Subjects
This is a pilot study investigating how a novel probiotic supplement (BEO001), with and without a dietary fiber (beta-glucan), affects the lining of the small intestine in healthy people.
- Trial name
- Bugs4U-MoA (NCT07366749)
- Testing
- BEO001 Probiotic, BEO001 Probiotic + Beta-Glucan
- Where
- Sweden
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Örebro University, Sweden
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.