Clinical trials: Metabolism, Inborn Errors
Phenylketonurias
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
The primary objective of this trial is to evaluate the ability of Phenoptin to increase phenylalanine (phe) tolerance in children with phenylketonuria who are following a phe-restricted diet.
- Trial name
- NCT00272792
- Testing
- Sapropterin Dihydrochloride
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- BioMarin Pharmaceutical
Gout
A Phase 2 Trial of Dotinurad in Xanthine Oxidase Inhibitor (XOI) Intolerant/Uricase Failure Gout Participants
The primary objective of this trial is to evaluate the efficacy of dotinurad in lowering serum uric acid (sUA) at Week 24 in participants with gout who are XOI intolerant or have failed uricase treatment.
- Trial name
- NCT07535034
- Testing
- Dotinurad
- Where
- 41 sites in United States
- Volunteers
- 90 people
- Sponsor
- Crystalys Therapeutics
Smith-Lemli-Opitz Syndrome
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
This 10-week study will evaluate and compare behavior changes in children with Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those who are not on cholesterol supplementation.
- Trial name
- NCT00114634
- Testing
- Egg yolk preparation with cholesterol, Egg substitute, without cholesterol
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Cardiovascular Disease, Hyperhomocysteinemia
Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
It is well recognized that patients with chronic kidney disease (CKD) have an increased risk for cardiovascular disease (CVD) and hyperhomocysteinemia appears to be a predictor of future CVD events.
- Trial name
- NCT01391416
- Volunteers
- 98 people, healthy volunteers welcome
- Sponsor
- Bangkok Metropolitan Administration Medical College and Vajira Hospital
Hypophosphatasia
Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)
This clinical trial studied the long term safety and efficacy of asfotase alfa in infants and young children with infantile onset HPP who completed study ENB-002-08 (NCT00744042).
- Trial name
- NCT01205152
- Testing
- asfotase alfa
- Where
- 8 sites in United States, United Arab Emirates and 1 more
- Volunteers
- 10 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Homozygous Familial Hypercholesterolemia
A Multicenter, Randomized, Double-blind, Placebo-controlled Phase III Clinical Study Evaluating the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia
This is a multicenter, randomized, double-blind, placebo-controlled phase III clinical study to assess the reduction of low-density lipoprotein cholesterol (LDL-C) by SHR-1918 in patients with homozygous familial…
- Trial name
- NCT06723652
- Testing
- SHR-1918
- Where
- China
- Volunteers
- 55 people
- Sponsor
- Beijing Suncadia Pharmaceuticals Co., Ltd
Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia)
Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.
- Trial name
- NCT03970278
- Testing
- No intervention
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Gout, Gouty Arthritis
Pharmacist-Led Treat-to-Target Urate Lowering Therapy in Patients With Gout
This study will compare two different approaches to manage medications that lower uric acid levels. This study will be conducted at five VA medical centers across the United States and will take 4-5 years to complete.
- Trial name
- Pham-UP (NCT06887452)
- Testing
- Pharmacist-Led
- Where
- 5 sites in United States
- Volunteers
- 310 people
- Sponsor
- VA Office of Research and Development
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Wilson's Disease
International Wilson's Disease Patient Registry (iWilson Registry)
Longitudinal, observational, non-interventional, standard of care Registry. Data will be collected from the routinely scheduled WD clinic visits at approximately 6-12 month intervals.
- Trial name
- NCT05239858
- Where
- 16 sites in Belgium, France and 5 more
- Volunteers
- 500 people
- Sponsor
- Orphalan
Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction
Cardiac Amyloidosis in HFpEF Tunisian Patients
Cardiac amyloidosis (CA) has recently been reported as a common cause of heart failure with preserved left ventricular ejection fraction (HFpEF), with a prevalence of 6% in elderly HFpEF patients.
- Conditions
- Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction, Echocardiography, CMR
- Trial name
- Amy-Card (NCT06201832)
- Where
- Tunisia
- Volunteers
- 87 people
- Sponsor
- University Tunis El Manar
Smith-Lemli-Opitz Syndrome
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations.
- Trial name
- NCT00017732
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Leukemia
A Study of Imatinib With Reinduction Chemotherapy Using Mitoxantrone, Etoposide and Cytarabine in Patients With Relapsed/Refractory C-kit Positive (AML) Acute Myeloid Leukemia
This is a Phase I-II study evaluating the toxicity and efficacy of imatinib combined with mitoxantrone, etoposide and high-dose cytarabine reinduction therapy in relapsed and refractory AML.
- Trial name
- NCT01126814
- Testing
- Imatinib (Gleevec)
- Where
- Canada
- Volunteers
- 35 people
- Sponsor
- University Health Network, Toronto
Gout
Combining Lesinurad With Allopurinol in Inadequate Responders
This study that compare the serum uric acid lowering effects, clinical benefits, and safety of lesinurad in combination with allopurinol to allopurinol alone in subjects with gout who have had an inadequate response to…
- Trial name
- CLEAR 1 (NCT01510158)
- Testing
- Lesinurad, Allopurinol
- Where
- 165 sites in United States
- Volunteers
- 607 people
- Sponsor
- Ardea Biosciences, Inc.
Alkaptonuria
Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Nitisinone is a potent inhibitor of the enzyme that catalyzes the formation of homogentisic acid, and should be an even more logical treatment for alkaptonuria than for tyrosinemia, for which it has been approved by the FDA.The…
- Trial name
- NCT01390077
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of California, San Diego
Fabry Disease
A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme.
- Trial name
- NCT00312767
- Testing
- Fabrazyme (agalsidase beta)
- Where
- United States
- Sponsor
- Genzyme, a Sanofi Company
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Maculopathy, Age-Related, Choroidal Neovascularization
Age-related Macular Degeneration: Detection of Onset of New Choroidal Neovascularization (AMD DOC Study)
The purpose of this study is to determine the sensitivity of the optical coherence tomography (OCT) test in detecting neovascular AMD in eyes at high risk for CNV development.
- Trial name
- NCT00417846
- Where
- 4 sites in United States
- Volunteers
- 98 people
- Sponsor
- Johns Hopkins University
Amyloid, Cardiac Amyloidosis
[18F]FT8 PET Imaging in Immunoglobulin Light Chain Amyloidosis
[18F]FT8, a derivative of 1-(4-pyridyl)-4-piperazinyl arene ([18F]TPZA), exhibits high affinity for AL amyloid in myocardial tissue sections and shows no significant binding to transthyretin amyloid.
- Conditions
- Amyloid, Cardiac Amyloidosis, Amyloidosis, Healthy Subjects
- Trial name
- NCT07232459
- Testing
- [18F]FT8
- Where
- 3 sites in China
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Tianjin Medical University
PHP Ia, PHP IB
Effect of Theophylline in Pseudohypoparathyroidism
The study evaluates the effect of theophylline in 100 subjects with Pseudohypoparathyroidism.
- Conditions
- PHP Ia, PHP IB, Php1C
- Trial name
- NCT03718403
- Testing
- Theophylline
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Massachusetts General Hospital
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