Clinical trials: Inborn Errors of Metabolism Disorders
Methylmalonic Acidemia (MMA), Metabolism, Inborn Errors
Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia
This First-in-Human (FIH) Phase 1/2 study will evaluate mRNA-3704 in patients with methylmalonic acidemia/aciduria (MMA) due to methylmalonyl-coenzyme A mutase (MUT) deficiency between 1 to 18 years of age with elevated plasma…
- Trial name
- NCT03810690
- Testing
- mRNA-3704
- Sponsor
- ModernaTX, Inc.
Primary Hypercholesterolemia, Homozygous Familial Hypercholesterolemia
Evaluation of the Safety, Tolerability and Efficacy of Ezetimibe on a Select Population of Filipinos With Hypercholesterolemia (Study P04748)(COMPLETED)
The purpose of this study is to evaluate the overall safety, tolerability, and efficacy of Ezetimibe when used alone or in combination with a statin in patients with hypercholesterolemia
- Trial name
- NCT00704535
- Testing
- Ezetimibe
- Volunteers
- 4,105 people
- Sponsor
- Organon and Co
Cardiac Diseases, Muscular Weakness
Biomarker for Pompe Disease (BioPompe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)
- Conditions
- Cardiac Diseases, Muscular Weakness, Hepato-splenomegaly, Lung Disease
- Trial name
- BioPompe (NCT01457443)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Fabry Disease
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
This is an 18-month, multicenter, randomized, active-control, parallel-group Phase 3 study, in which participants will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat)…
- Trial name
- CARAT (NCT05280548)
- Testing
- Venglustat (GZ402671), Agalsidase alfa, Agalsidase beta (GZ419828)
- Where
- 54 sites in United States, Austria and 17 more
- Volunteers
- 104 people
- Sponsor
- Sanofi
Phenylketonurias
Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06687733
- Testing
- NGGT002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- NGGT (Suzhou) Biotechnology Co., Ltd.
Alpha-Mannosidosis
Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
The main objectives of the study are to evaluate safety and efficacy of repeated treatment with recombinant human alfa-mannosidase of patients with alfa-mannosidosis aged less than 6 years
- Trial name
- rhLaman-08 (NCT02998879)
- Testing
- Velmanase Alfa (e.g. Lamazym)
- Where
- 6 sites in Austria, Denmark and 3 more
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Gout
Bucillamine for the Treatment of Acute Gout Flare in Subjects With Moderate to Severe Gout
A Phase IIA, open-label, multicenter, active-controlled, parallel-group clinical trial designed to evaluate the safety and efficacy of two doses of Bucillamine compared with low-dose Colchicine in the treatment of patients with…
- Trial name
- NCT02330796
- Testing
- Bucillamine, Colchicine
- Where
- 3 sites in United States
- Volunteers
- 66 people
- Sponsor
- Revive Therapeutics, Ltd.
Chronic Gout Refractory to Conventional Therapy
Re-exposure Study of Pegloticase Intravenous (i.v.) in Symptomatic Gout Patients
The purpose of the study is to evaluate the safety and clinical effect of re-exposure to a 24 week course of treatment of pegloticase i.v. in subjects whose last exposure to pegloticase i.v.
- Trial name
- NCT00675103
- Testing
- pegloticase 8 mg i.v.
- Where
- 4 sites in United States
- Volunteers
- 7 people
- Sponsor
- Savient Pharmaceuticals
Leigh Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
- Trial name
- NCT02352896
- Testing
- EPI-743
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
Healthy Participants
A Study to Investigate the Effect of Food on Balcinrenone/Dapagliflozin Pharmacokinetics in Fed and Fasted State and Pharmacokinetics of Balcinrenone When Dosed With a P-gp Inhibitor in Healthy Participants.
The main purpose of this study is to assess the effect of food on balcinrenone/ dapagliflozin pharmacokinetics in fed and fasted state and pharmacokinetics of balcinrenone when dosed with a P-gp inhibitor in healthy participants.
- Trial name
- NCT06979388
- Testing
- balcinrenone/ dapagliflozin, quinidine
- Where
- United Kingdom
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Homozygous Familial Hypercholesterolemia
Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia
The primary objectives of the study are: To evaluate the long-term safety and tolerability of evinacumab in patients with Homozygous Familial Hypercholesterolemia (HoFH) To evaluate the long-term safety and tolerability of…
- Trial name
- NCT03409744
- Testing
- evinacumab
- Where
- 38 sites in United States, Australia and 10 more
- Volunteers
- 116 people
- Sponsor
- Regeneron Pharmaceuticals
Pompe Disease
Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT03865836
- Testing
- ATB200, AT2221
- Sponsor
- Amicus Therapeutics
Healthy
A Comparative Bioavailability/Food Effect Study of Immediate-Release and Extended-Release Tramadol HCl/Acetaminophen Combination Products Following Single-Dose and Multiple-Dose Administration in Healthy Adult Volunteers
The objectives of this two-part study were to compare the single-dose and multiple-dose pharmacokinetics of extended release and immediate-release fixed combination formulations containing tramadol-HCl/acetaminophen and to…
- Trial name
- NCT00973232
- Testing
- DDS-06C (650 mg acetaminophen and 75 mg tramadol HCl), DDS-06C (650 mg acetaminophen and 75 mg tramadol), Zaldiar®
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Labopharm Inc.
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Primary Hyperoxaluria
Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis
The purpose of this study is to determine if Oxalobacter formigenes is effective at lowering plasma oxalate levels in patients with primary hyperoxaluria who are on dialysis.
- Trial name
- NCT02000219
- Testing
- Oxalobacter formigenes
- Where
- Germany
- Volunteers
- 12 people
- Sponsor
- OxThera
Gout, Moderate Renal Impairment
Efficacy and Safety of Extended Release and Immediate Release Febuxostat in Participants With Gout and Moderate Renal Impairment
The purpose of this study is to evaluate the efficacy and safety of febuxostat 40 mg extended release (XR) and 80 mg XR in comparison with febuxostat 40 mg immediate release (IR) and 80 mg IR, respectively, in gout participants…
- Trial name
- NCT02128490
- Testing
- Febuxostat IR, Febuxostat XR, Colchicine
- Where
- 89 sites in United States
- Volunteers
- 189 people
- Sponsor
- Takeda
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
Congenital Adrenal Hyperplasia
Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
This study is a parallel arm, randomised, open-label study, including dose titration and admissions for four overnight stays for 24-hour endocrine profiles.
- Trial name
- NCT02716818
- Testing
- Chronocort®, standard glucocorticoid therapy
- Where
- United States
- Volunteers
- 122 people
- Sponsor
- Neurocrine UK Limited
Sanfilippo Syndrome Type B
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future…
- Trial name
- NCT01509768
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 19 people
- Sponsor
- Shire
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