Clinical trials: Metabolism, Inborn Errors
Gout
Efficacy and Safety of Oral Febuxostat in Participants With Gout
The purpose of this study is to compare the efficacy and safety of febuxostat, once Daily (QD), to allopurinol in subjects with hyperuricemia and gout.
- Trial name
- CONFIRMS (NCT00430248)
- Testing
- Febuxostat, Allopurinol
- Where
- 258 sites in United States
- Volunteers
- 2,269 people
- Sponsor
- Takeda
Mucopolysaccharidosis II
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant…
- Trial name
- COMPASS (NCT05371613)
- Testing
- tividenofusp alfa, idursulfase
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 65 people
- Sponsor
- Denali Therapeutics Inc.
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Gout
A Study of Persons With Gout Who Do Not Respond to or Are Allergic to Conventional Therapy
This is a randomized, open-label, multicenter, parallel-groups study of multiple intravenous doses of Puricase, administered intravenously, in 40 patients with symptomatic gout.
- Trial name
- NCT00080210
- Testing
- Puricase
- Where
- 9 sites in United States
- Volunteers
- 40 people
- Sponsor
- Savient Pharmaceuticals
Juvenile Neuronal Ceroid Lipofuscinosis
Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
The purpose of this study is to evaluate the safety and efficacy of multiple doses of PLX-200 in patients with CLN3 disease.
- Trial name
- NCT04637282
- Testing
- PLX-200
- Sponsor
- Polaryx Therapeutics, Inc.
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with…
- Conditions
- Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Xi
- Trial name
- NCT07459582
- Testing
- Lactate Meter, Accu Chek
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Connecticut Children's Medical Center
Hypoparathyroidism
Effects of a Liquid Meal and Gut Hormones (GIP and GLP-2) on Bone Remodeling in Participants With Hypoparathyroidism.
Hypoparathyroidism (hypoPT) is characterized by low levels of PTH. In this study we will test the effects of a liquid meal on the bone remodeling in participants with hypoparathyroidism.
- Trial name
- KS-4-HypoPT (NCT03728959)
- Testing
- Liquid meal (Nutridrink), GIP, GLP-2
- Where
- Denmark
- Volunteers
- 7 people
- Sponsor
- University of Copenhagen
Gout
Open-Label Lesinurad Monotherapy Extension Study in Gout
This study will assess the serum uric acid lowering effects and safety of lesinurad over a long-term timeframe.
- Trial name
- NCT01650246
- Testing
- lesinurad
- Where
- 75 sites in United States, Australia and 5 more
- Volunteers
- 143 people
- Sponsor
- Ardea Biosciences, Inc.
G6PD Deficiency
Effects of N-acetyl Cystein (NAC) Supplementation in G6PD Deficient Individuals After Acute Exercise
The purpose of this study is to investigate the effects of N-acetyl Cystein (NAC) supplementation on redox status, physiological and biochemical parameters in G6PD deficient individuals after acute exercise.
- Trial name
- NCT02937376
- Testing
- N-acetyl cystein
- Where
- Greece
- Volunteers
- 12 people
- Sponsor
- University of Thessaly
Cardiovascular Diseases, Coronary Disease
Genetic Epidemiology of Hypertriglyceridemia
To determine prospectively the role of elevated plasma triglyceride (TG) as a risk factor for 20-year coronary heart disease (CHD) mortality in familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG), the…
- Conditions
- Cardiovascular Diseases, Coronary Disease, Hyperlipidemia, Familial Combined, Hyperlipoproteinemia Type iv
- Trial name
- NCT00005368
- Sponsor
- University of Washington
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Lysosomal Storage Diseases
NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations
LYSO-NEXT uses genetic sequencing to identify undiagnosed lysosomal storage disorders in adults with unexplained neurological symptoms.
- Trial name
- LYSO-NEXT (NCT07863479)
- Testing
- NGS-based genetic testing
- Where
- Italy
- Volunteers
- 1,000 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Severe Combined Immunodeficiency, Malignancy, Hematologic
Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
This protocol (GENEFU) provides a mechanism for the 15-year followup period that the FDA requires for all participants in gene transfer protocols and assures that adequate followup can be maintained for a wide variety of…
- Conditions
- Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm
- Trial name
- NCT00695279
- Testing
- Venipuncture
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- St. Jude Children's Research Hospital
Pseudotumor Cerebri, Cystinosis
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC).
- Trial name
- NCT00071903
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Non-celiac Wheat Sensitivity
Lactose Intolerance and Cow's Milk Protein Allergy in Non-celiac Wheat Sensitivity Patients
In the last few years a new clinical entity has emerged which includes patients who consider themselves to be suffering from problems caused by wheat and/or gluten ingestion, even though they do not have celiac disease (CD) or…
- Trial name
- NCT03008252
- Testing
- Lactose breath test, DBPC cow's milk protein challenge
- Where
- 2 sites in Italy
- Volunteers
- 300 people
- Sponsor
- University of Palermo
Wilson Disease
A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy…
- Trial name
- NCT04884815
- Testing
- UX701, Standard of Care (SOC)
- Where
- 16 sites in United States, Portugal and 2 more
- Volunteers
- 82 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonuria
Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Familial Chylomicronemia, High Risk Severe Hypertriglyceridemia (SHTG)
Treatment Protocol of Plozasiran in Adults With High-Risk Severe Hypertriglyceridemia (SHTG) and in Adults and Adolescents With FCS
This is a treatment program for the use of plozasiran in adults (AROAPOC3-EAP-002) and adolescents (AROAPOC3-EAP-003) with familial chylomicronemia syndrome (FCS) as well as in adults (AROAPOC3-EAP-004) with high risk severe…
- Trial name
- NCT06796426
- Testing
- Plozasiran
- Where
- United States
- Sponsor
- Arrowhead Pharmaceuticals
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