Clinical trials: Metabolism, Inborn Errors
Congenital Adrenal Hyperplasia
A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH
An investigation of the ability of Tildacerfont to reduce supraphysiologic glucocorticoid dosing in classic Congenital adrenal hyperplasia (CAH) subjects up to 76 weeks of treatment. Optional open label extension up to 240 weeks.
- Trial name
- NCT04544410
- Where
- 43 sites in United States, Australia and 14 more
- Volunteers
- 100 people
- Sponsor
- Spruce Biosciences
Gout, Hyperuricemia
The Effect of Naproxen on the Pharmacokinetic Profile of LC350189 in Healthy Adults
This is a Phase 1, open-label, fixed-sequence, 3-period, 2-way drug interaction study designed to assess the pharmacokinetics, pharmacodynamics, safety, and tolerability of LC350189 and Naproxen when administered alone and in…
- Trial name
- NCT04139824
- Testing
- Xanthine Oxidase Inhibitor, nonsteroidal anti-inflammatory drug
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- LG Chem
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Hypercholesterolemia, Familial
Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
Statins have been shown to reduce LDL cholesterol (LCLc) levels, stabilizing atheromatous plaque, reversing endothelial dysfunction and decreasing thrombogenesis.
- Trial name
- CytoEx-PCSK9 (NCT06231459)
- Testing
- Evolocumab
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado
Lactose Intolerance
Effect of a Probiotic Formulation in Adults With Lactose Intolerance and Methanogenic Intestinal Overgrowth
Introduction: Lactose intolerance (LI) is characterized by specific gastrointestinal symptoms following the consumption of dairy products and lactose-containing foods, symptoms that may also be experienced by individuals with…
- Trial name
- LAC L-134/33 (NCT07652827)
- Testing
- Probiotic formulation
- Where
- Chile
- Volunteers
- 22 people
- Sponsor
- Universidad de Concepcion
Sexual Assault, Substance Use
Nexus of Risk: Sexual Assault, Alcohol Use, and Risky Sex Among College Women
Sexual assault on college campuses has reached epidemic proportions, yet the etiological variables responsible for violence against women in these contexts remain unclear.
- Conditions
- Sexual Assault, Substance Use, Risky Health Behavior, Ema
- Trial name
- NCT05892692
- Testing
- Ecological Momentary Intervention
- Where
- United States
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
Overweight and Obesity, Type IIb Hyperlipidaemia
Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers
Low carbohydrate diet may influence the plasma lipid levels.
- Conditions
- Overweight and Obesity, Type IIb Hyperlipidaemia, Hypercholesterolemia Aggravated
- Trial name
- NCT01476436
- Testing
- Low carbohydrate dietary advice, Continue usual diet
- Where
- 2 sites in Norway
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
Primary Hyperoxaluria
Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria
Evaluation of the efficacy of stiripentol (Diacomit) as monotherapy for the treatment of primary hyperoxaluria. Pilot clinical study, open, prospective and multicenter.
- Trial name
- NCT03819647
- Testing
- stiripentol (Diacomit)
- Where
- 3 sites in France
- Volunteers
- 15 people
- Sponsor
- Biocodex
Acute Gouty Arthritis
Long-Term Safety and Tolerability of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients
This is a 36 week open-label extension of the canakinumab pre-filled syringe study for safety and tolerability in patients who have frequent flares of acute gouty arthritis.
- Trial name
- NCT01431638
- Testing
- Canakinumab 150mg in prefilled syringe
- Where
- 68 sites in United States, Canada and 2 more
- Volunteers
- 397 people
- Sponsor
- Novartis Pharmaceuticals
Niemann-Pick Disease, Type C
Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1
This is a multicenter, multinational, open-label study of VTS-270 to evaluate the long-term safety and tolerability of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in participants transitioning from Study VTS301 (Parts A/B…
- Trial name
- NCT03879655
- Testing
- VTS-270
- Where
- Costa Rica
- Volunteers
- 2 people
- Sponsor
- Mandos LLC
Type II Hyperlipidemia
A Safety and Efficacy Study of DRL-17822, a Cholesteryl Ester Transfer Protein (CETP) Inhibitor, in Patients With Abnormal Cholesterol Levels
The purpose of this study is to determine if a new drug, DRL-17822, is safe and effective in elevating high density lipoprotein cholesterol (HDL-C) and reducing low density lipoprotein cholesterol (LDL-C) in people with abnormal…
- Trial name
- NCT01388816
- Where
- 12 sites in Italy, Poland and 1 more
- Volunteers
- 176 people
- Sponsor
- Dr. Reddy's Laboratories Limited
Inclusion Body Myositis, Myotonic Dystrophy
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs).
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Limb-girdle and Facioscapulohumeral Muscular Dystrophies, Pompe Disease
- Trial name
- FBIndex (NCT06605612)
- Testing
- FBIndex
- Where
- Germany
- Volunteers
- 108 people
- Sponsor
- LMU Klinikum
X-linked Hypophosphatemia, Tumor-Induced Osteomalacia
Expanded Access to Burosumab
Individual patient expanded access requests may be considered for patients who have no other treatment options
- Trial name
- NCT03775187
- Testing
- Burosumab
- Sponsor
- Kyowa Kirin Co., Ltd.
Gout
Mild, Moderate and Severe Renal Impairment Study
This is a Phase 1, single-dose, open-label, pharmacokinetic (PK) and pharmacodynamic (PD) study of RDEA3170 in adult male subjects with mild, moderate, and severe renal impairment.
- Trial name
- NCT02219516
- Testing
- RDEA3170
- Where
- 4 sites in United States
- Volunteers
- 31 people
- Sponsor
- Ardea Biosciences, Inc.
Osteoarthritis, Knee, Knee Arthritis
Evaluation and Characterisation of Microplastics and Nanoplastics in Joint Synovial Liquid
The research study aims to evaluate the synovial fluid to highlight the presence of possible micropolymers (micro/nanoplastics) in order to better understand the pathophysiology of joint degenerative processes.
- Conditions
- Osteoarthritis, Knee, Knee Arthritis, Gout Arthritis, Microcrystal Disease
- Trial name
- NCT05678049
- Testing
- Synovial fluid analysis
- Volunteers
- 50 people
- Sponsor
- Iuliu Hatieganu University of Medicine and Pharmacy
Pompe Disease (Late-onset), Pompe Disease Late-Onset
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
This is a single-arm, open-label, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of AB-1009 in adult participants with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Pompe Disease Late-Onset, LOPD
- Trial name
- NCT07282847
- Testing
- AB-1009 (GAA Gene)
- Where
- 9 sites in United States
- Volunteers
- 12 people
- Sponsor
- AskBio Inc
Wilson Disease
An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease
The primary objective of this study is to evaluate the tolerability and safety of MWAV201 in patients with Wilson disease.
- Trial name
- NCT06663878
- Testing
- MWAV201
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Cardiac Amyloidosis
Diagnosis of Cardiac Amyloidosis With 99mTc-PYP; Comparison Between Planar Imaging, SPECT/CT and Cardiac-dedicated CZT Camera
1. Patients will undergo clinical and laboratory assessment, as well as imaging tests, at the discretion of the attending cardiologist and will be referred at their discretion to perform cardiac mapping using 99mTc-PYP. 2.
- Trial name
- NCT04146415
- Testing
- Spect scan with mTc99-PYP
- Volunteers
- 30 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neonatal Salt Loss, Congenital Adrenal Hyperplasia (CAH)
Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening.
- Trial name
- NCT07473804
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
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