Clinical trials: Metabolic Abnormalities
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Hypoleptinemia, Generalized Lipodystrophy
Trial of Leptin Replacement Therapy in Patients With Lipodystrophy
Lipodystrophies represent a therapeutic challenge with regards to insulin resistance, hypertriglyceridemia and fatty liver which often is coupled with significant adipose tissue loss.
- Conditions
- Hypoleptinemia, Generalized Lipodystrophy, Partial Lipodystrophy, Insulin Resistance
- Trial name
- NCT00896298
- Testing
- Leptin
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of Texas Southwestern Medical Center
Diabetes Mellitus (DM)
Metatarsal Phalangeal Joint Deformity Progression - R01
The purpose of this research study is to determine the relationships between foot muscle, foot motion, and toe deformity. Results from this investigation will help the investigators to understand what contributes to foot…
- Trial name
- NCT02616263
- Testing
- Foot exercise, Shoulder exercise
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Washington University School of Medicine
Glycogen Storage Disease Type IA
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose…
- Trial name
- NCT05139316
- Testing
- DTX401, Oral prednisolone
- Where
- 20 sites in United States, Brazil and 7 more
- Volunteers
- 52 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonurias
Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute.
This is a 2 arm, randomised, controlled, cross-over study in 16 children with PKU. Subjects who are currently taking a Phe free/low Phe protein substitute will be recruited for a 31-day trial.
- Trial name
- NCT05487378
- Testing
- PKU GOLIKE
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- APR Applied Pharma Research s.a.
Hypertriglyceridemia, Hyperlipoproteinemia Type IV
Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients
The primary purpose of this trial is to determine if the treatment with rosuvastatin 10 and 20mg/day during 8 weeks in hypertriglyceridemic patients will reduce their triglyceride levels.
- Conditions
- Hypertriglyceridemia, Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V, Hyperlipoproteinemia Type IIb
- Trial name
- NCT00473655
- Testing
- rosuvastatin
- Where
- 3 sites in Mexico
- Volunteers
- 334 people
- Sponsor
- AstraZeneca
Familial Partial Lipodystrophy
The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy
The purpose of this study is to evaluate the efficacy and safety of volanesorsen given for 52 weeks in a randomized treatment (RT) period in participants with familial partial lipodystrophy (FPL).
- Trial name
- NCT02527343
- Testing
- volanesorsen
- Where
- 12 sites in United States, Belgium and 5 more
- Volunteers
- 40 people
- Sponsor
- Akcea Therapeutics
Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Evaluation of the Efficacy and Safety of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia and Statin Intolerant
The purpose of this study is to determine if bempedoic acid (ETC-1002) is effective and safe versus placebo in patients with elevated LDL cholesterol and who are statin-intolerant.
- Conditions
- Hypercholesterolemia, Atherosclerotic Cardiovascular Disease, Statin Adverse Reaction
- Trial name
- CLEAR Serenity (NCT02988115)
- Testing
- bempedoic acid
- Where
- 67 sites in United States, Canada
- Volunteers
- 345 people
- Sponsor
- Esperion Therapeutics, Inc.
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Heart Defects, Congenital, Hyperglycemia
SPECS: Safe Pediatric Euglycemia in Cardiac Surgery
Critically ill children, including children undergoing heart surgery, commonly develop elevated blood glucose (also known as "blood sugar") levels during their illness, which can lead to poor health outcomes and an increased risk…
- Trial name
- SPECS (NCT00443599)
- Testing
- Insulin, Usual Care
- Where
- 2 sites in United States
- Volunteers
- 989 people
- Sponsor
- Boston Children's Hospital
Fabry Disease
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
Study to compare the efficacy and safety of migalastat and enzyme replacement therapy (ERT) in male and female participants with Fabry disease who are currently receiving ERT and who have an alpha galactosidase-A (α Gal-A)…
- Trial name
- NCT01218659
- Testing
- migalastat hydrochloride, agalsidase
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 68 people
- Sponsor
- Amicus Therapeutics
Mixed Hyperlipidemia
Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024)
This is a 12-week clinical trial in participants with mixed hyperlipidemia to study the effects of MK-0524B on lipids.The primary hypothesis is that MK-0524B (dosed as MK-0524A coadministered with simvastatin) will be superior to…
- Trial name
- NCT00289900
- Testing
- MK-0524A, Atorvastatin, Simvastatin
- Volunteers
- 2,340 people
- Sponsor
- Merck Sharp & Dohme LLC
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Prehypertension, Gout
Study of Febuxostat Effect on Blood Pressure in Patients With High Normal Blood Pressure
High normal blood pressure, also called prehypertension, is a significant problem. High uric acid in the blood, the same thing that causes gout, may cause higher blood pressures.
- Conditions
- Prehypertension, Gout, Pulse Wave Velocity, Hypertension
- Trial name
- NCT01472692
- Testing
- Febuxostat
- Where
- United States
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
Vitamin D Deficiency, HIV
Vitamin D in HIV-Infected Patients on HAART
This is a research study to look at vitamin D deficiency (low levels) in men and women with HIV. As part of your regular medical care, you will be screened for vitamin D deficiency.
- Trial name
- NCT01250899
- Testing
- Vitamin D
- Where
- United States
- Volunteers
- 122 people
- Sponsor
- University of California, Los Angeles
Fabry Disease
Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the long-term safety of GZ/SAR402671 in adult male participants with Fabry disease who previously completed study ACT13739 (NCT02489344).
- Trial name
- NCT02489344
- Testing
- GZ/SAR402671
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
The purpose of this study is to compare the safety and effectiveness of various doses of Replagal in patients with cardiomyopathy due to Fabry disease.
- Trial name
- NCT00864851
- Testing
- Replagal
- Where
- 12 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Shire
Dyslipidemias, High Cholesterol
Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
This study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROOKLYN (NCT05425745)
- Testing
- Obicetrapib
- Where
- 96 sites in United States, Canada and 8 more
- Volunteers
- 354 people
- Sponsor
- NewAmsterdam Pharma
Fabry Disease
A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.
This is an international, non-interventional research study of adult patients with Fabry Disease and their caregivers. The study comprised a prospective time and motion evaluation and a cross-sectional evaluation of patient and…
- Trial name
- NCT04281537
- Testing
- Enzyme Replacement Therapy (ERT)
- Where
- 9 sites in United States, Brazil and 3 more
- Volunteers
- 82 people
- Sponsor
- Amicus Therapeutics
Hypercholesterolemia, Familial
Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
The primary objective of this study was to evaluate the effect of 12 weeks of subcutaneous evolocumab (AMG 145), compared with placebo, on percent change from baseline in LDL-C in adults with heterozygous familial…
- Trial name
- RUTHERFORD (NCT01375751)
- Testing
- Evolocumab
- Volunteers
- 168 people
- Sponsor
- Amgen