Clinical trials: Metabolism, Inborn Errors
Gout, Hyperuricemia
Study to Evaluate sUA Lowering Activity, Safety and Efficacy of Oral Ulodesine Added to Allopurinol
The purpose of this study is to determine whether ulodesine and allopurinol combined for 12 weeks are effective in treating gout in patients who are not adequately responding to allopurinol alone.
- Conditions
- Gout, Hyperuricemia, Arthritis, Joint Disease
- Trial name
- NCT01265264
- Testing
- ulodesine
- Where
- 54 sites in United States
- Volunteers
- 279 people
- Sponsor
- BioCryst Pharmaceuticals
Gaucher Disease
A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of single dosing study with three ascending dose cohorts of ISU302 in healthy subjects.
- Trial name
- NCT01881633
- Testing
- ISU302
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
Gout
Study of of URC102 to Assess the Efficacy and Safety in Gout Patients
To confirm the safety and efficacy (dose response and optimal dose according to the serum uric acid response rate) of URC102 when orally-administered to patients with gout and gout-related hyperuricemia in comparison with…
- Trial name
- URC102 (NCT04804111)
- Testing
- arm 0, arm 1, arm 2
- Where
- 2 sites in South Korea
- Volunteers
- 171 people
- Sponsor
- JW Pharmaceutical
Familial Hypercholesterolemia
Treatment Rates and Compliance to Treatment in Patients With Familial Hypercholesterolemia
Familial hypercholesterolemia is a genetic disease characterized by increased levels of low density lipoprotein cholesterol (LDL-C).
- Trial name
- NCT04494464
- Testing
- No intervention
- Volunteers
- 367 people
- Sponsor
- Ankara Yildirim Beyazıt University
Familial Partial Lipodystrophy, Hypertriglyceridemia
Study of Gemcabene in Adults With FPLD
The overall objective of this study is to assess the efficacy and safety of two dosing regimens of gemcabene (300 mg once daily for 24 weeks or 300 mg daily for 12 weeks followed by 600 mg daily for 12 weeks) in up to eight…
- Conditions
- Familial Partial Lipodystrophy, Hypertriglyceridemia, Fatty Liver, NASH - Nonalcoholic Steatohepatitis
- Trial name
- NCT03508687
- Testing
- 300mg Gemcabene, 600mg Gemcabene
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Elif Oral
Darier Disease, Hailey-Hailey Disease
National Registry for Ichthyosis and Related Disorders
The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated…
- Conditions
- Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic, Ichthyosis
- Trial name
- NCT00074685
- Where
- United States
- Volunteers
- 610 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Transthyretin-Mediated Amyloidosis, ATTR Amyloidosis
ConTTRibute: A Global Observational Study of Patients With Transthyretin (TTR)-Mediated Amyloidosis (ATTR Amyloidosis)
The purpose of this study is to: Describe epidemiological and clinical characteristics, natural history and real-world clinical management of ATTR amyloidosis patients Characterize the safety and effectiveness of patisiran and…
- Trial name
- ConTTRibute (NCT04561518)
- Where
- 40 sites in United States, Brazil and 10 more
- Volunteers
- 1,500 people
- Sponsor
- Alnylam Pharmaceuticals
Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.
- Conditions
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- Trial name
- NCT00947960
- Testing
- Triheptanoin, Vegetable Oil
- Where
- France
- Volunteers
- 23 people
- Sponsor
- Baylor Research Institute
ESRD
Fabry Disease Screening in ESRD Patients in West of France
Screening of Fabry disease in end-stage renal disease (ESRD) patients on dialysis or transplant in west of France.
- Trial name
- SNOUFY (NCT02719249)
- Testing
- Dried blood spot test
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Rennes University Hospital
X-linked Adrenoleukodystrophy
Quality of Life in Women With X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids.
- Trial name
- X-ALD_QoL (NCT04675749)
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Leipzig University Medical Center
Gaucher Disease Type 3
A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease
- Trial name
- NCT07603050
- Testing
- VGN-R08b
- Volunteers
- 12 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
Evaluation of Plasma Lipoproteins
Evaluation of Lipoproteins
Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the blood stream. These particles are involved in causing blood vessel disease that can lead to conditions like hardening of the arteries…
- Trial name
- NCT00001168
- Testing
- Balanced diet
- Where
- United States
- Volunteers
- 1,017 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Familial Hypercholesterolemia
Equitable Implementation of Cascade Screening for Familial Hypercholesterolemia
Design, refine, and pilot the two implementation approaches using behavioral economics and then seek further feedback prior to the proposed clinical trial, consistent with these recommendations. Aim 1.
- Trial name
- NCT05430191
- Testing
- Cascade Screening
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Northwestern University
Phenylketonuria
Protein Requirements in Children With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited inborn error of an amino acid phenylalanine (PHE) metabolism affecting 1:15,000 births. It is caused by a decreased activity of an enzyme in the liver called phenylalanine hydroxylase (PAH)…
- Trial name
- NCT01965691
- Testing
- Protein intake
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- University of British Columbia
Porphyria
Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria
OBJECTIVES: I. Evaluate the effectiveness of tin mesoporphyrin in reducing the number of heme infusions needed to prevent acute attacks of porphyria. II. Evaluate the safety and tolerability of tin mesoporphyrin in these patients.
- Trial name
- NCT00004397
- Testing
- heme arginate, tin mesoporphyrin
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Lipodystrophy, Dunnigan Syndrome
Exploratory Study of the Relationships Between the Biomarkers of Inflammation, Lipidome and Insulin Resistance and Disorders of Glycemic Regulation in a Cohort of Insulin-resistant Subjects Due to Excess Weight or Dunnigan's Lipodystrophy
The objective of this work is to identify biomarkers of interest in patients with insulin resistance leading to early disorders of glycemic regulation.
- Trial name
- IRAP-DUN 2 (NCT05424913)
- Testing
- research-specific blood sample
- Where
- Reunion
- Volunteers
- 150 people
- Sponsor
- Centre Hospitalier Universitaire de la Réunion
MELAS Syndrome, Ketogenic Dieting
Effectiveness of Ketogenic Diet in MELAS Syndrome
The goal of this clinical trial is to evaluate the effectiveness of ketogenic diet in patients with MELAS syndrome. The main questions it aims to answer are: Clarify the curative effects of ketogenic diet in the treatment of…
- Trial name
- NCT06013397
- Testing
- Ketogenic diet
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Gaucher Disease
Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase
This is a multi-center, open-label, switchover trial to assess the safety of taliglucerase alfa in 30 patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) enzyme replacement therapy.
- Trial name
- NCT00712348
- Testing
- Taliglucerase alfa
- Where
- 10 sites in United States, Australia and 4 more
- Volunteers
- 31 people
- Sponsor
- Pfizer
Wilson Disease
Establishment of Human Cellular Disease Models for Wilson Disease
Establishment of human cellular disease models for Wilson disease for an individualized therapy develop-ment having the capacity to address both hepatic and neurologic forms of the disease
- Trial name
- IPSWILSON (NCT03867526)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
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.
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