Clinical trials: Inborn Errors of Metabolism Disorders
MPS III B
Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE
This is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144…
- Trial name
- NCT05492799
- Testing
- AX 250
- Where
- 6 sites in United States, Colombia and 3 more
- Volunteers
- 15 people
- Sponsor
- Allievex Corporation
Amyloid Cardiomyopathy, Transthyretin-Related
Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10
This is a single center, prospective, randomized, placebo-controlled study of AG10 in healthy adult subjects
- Trial name
- NCT03294707
- Testing
- AG10 oral tablet
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency in Risk Groups
A multicenter real-world observational study of the prevalence, diagnostic pathways, and clinical characteristics of lysosomal acid lipase deficiency in pediatric and adolescent risk groups in the Russian Federation (HELIOS)
- Trial name
- HELIOS (NCT07455864)
- Where
- 2 sites in Russia
- Volunteers
- 25 people
- Sponsor
- AstraZeneca
Fructose Malabsorption
Efficacy of Fructose Metabolizing Enzymatic Product in Fructose Malabsorption
The purpose of this study is to determine whether the enzymatic product Frucosin(R) is able to degrade fructose in vivo in the small intestine of patients with known fructose malabsorption by measuring hydrogen in the expiratory…
- Trial name
- NCT00916487
- Testing
- Fructosin
- Where
- Austria
- Volunteers
- 65 people
- Sponsor
- Sciotec Diagnostic Technologies GmbH
X-linked Hypophosphatemia (XLH)
Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With XLH
The purpose of this study is to assess the safety, pharmacokinetics and efficacy of KRN23 in adult Chinese patients with XLH
- Trial name
- NCT04842019
- Testing
- KRN23
- Where
- 5 sites in China
- Volunteers
- 18 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Gout
Dose-Response, Safety and Efficacy of Febuxostat in Subjects With Gout
The purpose of this study is to determine the efficacy of febuxostat, once daily (QD), in reducing serum urate levels in subjects with gout.
- Trial name
- NCT00174967
- Testing
- Febuxostat
- Volunteers
- 153 people
- Sponsor
- Takeda
Heterozygous Familial Hypercholesterolemia (HeFH)
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
A phase 1/2, two-part trial consisting of an open label dose-escalation part and a randomized, double blind, placebo-controlled part to investigate safety, tolerability, pharmacokinetics, and efficacy with EDIT-401 gene editing…
- Trial name
- NCT07894887
- Testing
- Drug: EDIT-401
- Where
- 2 sites in Australia
- Volunteers
- 56 people
- Sponsor
- Editas Medicine, Inc.
Pompe Disease, Glycogen Storage Disease Type II
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease.
- Trial name
- NCT00515398
- Testing
- Observation
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary
ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)
The purpose of this study was to evaluate the safety and efficacy of revusiran (ALN-TTRSC) in patients with transthyretin (TTR) mediated Familial Amyloidotic Cardiomyopathy.
- Conditions
- Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Amyloid Neuropathies
- Trial name
- NCT02319005
- Testing
- Revusiran (ALN-TTRSC), Sterile Normal Saline (0.9% NaCl)
- Where
- 61 sites in United States, Belgium and 7 more
- Volunteers
- 206 people
- Sponsor
- Alnylam Pharmaceuticals
Phenylketonurias
Evaluation of Low Phenylalanine Formulas
Ajinomoto Cambrooke has developed a PKU protein substitute that is a proprietary blend of purified Glycomacropeptide (GMP) and essential amino acids, under the brand name Glytactin®.
- Trial name
- NCT06332105
- Testing
- Glytactin, L-AA
- Where
- 2 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Ajinomoto Co., Inc.
Mucopolysaccharidosis VI
Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI
The purpose of the study is to evaluate the safety, efficacy and pharmacokinetics of two dose levels of weekly intravenous infusions of recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) for a minimum of 24 weeks in…
- Trial name
- NCT00048620
- Testing
- N-acetylgalactosamine 4-sulfatase
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
G6PD, G6PD Deficiency
Comparative Evaluation of the FINDER Instrument and FINDER G6PD Cartridge in Adults and Neonates
A prospective clinical study to compare the clinical performance of the FINDER™ Instrument and the G6PD assay to an FDA cleared instrument/reagent combination in adult and neonate populations.
- Trial name
- NCT04146246
- Testing
- G6PD assay
- Where
- 3 sites in United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- Baebies, Inc.
Gout
Evaluate the Efficacy and Safety of Arhalofenate for Preventing Flares and Reducing Serum Uric Acid in Gout Patients
The purpose of this study is to determine whether arhalofenate is effective in preventing flares and reducing serum uric acid in gout patients.
- Trial name
- NCT02063997
- Testing
- Arhalofenate 600 mg, Allopurinol 300 mg, Colchicine 0.6 mg
- Where
- 56 sites in United States, Canada and 1 more
- Volunteers
- 248 people
- Sponsor
- Gilead Sciences
Primary Hypercholesterolemia or Mixed Hyperlipidemia
QLC7401 Monotherapy in Non-familial Hypercholesterolemia or Mixed Dyslipidemia
This Phase III clinical trial aims to assess the efficacy and safety of QLC7401 monotherapy in adults with non-familial primary hypercholesterolemia or mixed dyslipidemia who are not receiving lipid-lowering therapy.
- Trial name
- NCT07444086
- Testing
- QLC7401
- Volunteers
- 510 people
- Sponsor
- Qilu Pharmaceutical Co., Ltd.
Pompe Disease (Late-onset)
A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease
This is a phase 3 double-blind randomized study to study the efficacy and safety of intravenous ATB200 Co-administered with oral AT2221 in adult subjects with Late Onset Pompe Disease compared with Alglucosidase Alfa/placebo.
- Trial name
- PROPEL (NCT03729362)
- Testing
- Cipaglucosidase Alfa, Miglustat, Alglucosidase Alfa
- Where
- 73 sites in United States, Argentina and 22 more
- Volunteers
- 125 people
- Sponsor
- Amicus Therapeutics
Tyrosinemia, AKU
Evaluation of TYR Sphere in France
10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian.
- Trial name
- TYR sphere Fra (NCT04761588)
- Testing
- Tyr sphere
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Vitaflo International, Ltd
Transthyretin Amyloidosis, ATTR-CM
Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
The MaesTTRo study aims to enroll a global cohort of patients with transthyretin (ATTR) amyloidosis to longitudinally observe the natural course of the disease and describe real-world treatment patterns and outcomes.
- Conditions
- Transthyretin Amyloidosis, ATTR-CM, ATTRv-PN, ATTR
- Trial name
- MaesTTRo (NCT06465810)
- Testing
- Treatment of transthyretin (ATTR) amyloidosis in observational study setting
- Where
- 89 sites in United States, Canada and 4 more
- Volunteers
- 1,850 people
- Sponsor
- AstraZeneca
Healthy
Comparative Study to Evaluate KADIAN and Avinza in Healthy Adults
The primary objective of this study was to compare the single-dose relative bioavailability of Alpharma Branded Products Division (Kadian®) and Ligand® Pharmaceuticals Inc.
- Trial name
- NCT00782548
- Testing
- KADIAN (morphine sulfate sustained-release) capsules, Avinza (morphine sulfate sustained-release) capsules
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Actavis Inc.
Gouty Arthritis (GA)
A Bioequivalence Study of Two Different Dosage Form of Genakumab
The purpose of this study is to investigate whether Genakumab Injection is bioequivalent to Genakumab for Injection.
- Trial name
- NCT06451848
- Testing
- Genakumab Injection (T, Solution for injection), Genakumab for Injection (R, Powder for solution for injection)
- Where
- China
- Volunteers
- 178 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Homozygous Familial Hypercholesterolemia (HoFH)
A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
The purpose of the study is to evaluate the safety of Rosuvastatin in Children and Adolescents with Homozygous Familial Hypercholesterolemia.
- Trial name
- NCT02434497
- Testing
- Rosuvastatin 20mg
- Where
- 6 sites in Belgium, Canada and 4 more
- Volunteers
- 9 people
- Sponsor
- AstraZeneca
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