Clinical trials: Metabolism, Inborn Errors
Gout
An Innovative Chinese Herbal Formula for the Treatment of Gout
Gout is a chronic disease of deposition of monosodium urate crystals, which form in the presence of increased urate concentrations. Gout is closely related to hyperuricaemia.
- Trial name
- NCT05499312
- Testing
- HKIIM-KU formula
- Where
- Hong Kong
- Volunteers
- 80 people
- Sponsor
- Chinese University of Hong Kong
Gout, Gouty Arthritis
Evaluation of Efficacy and Safety of AR882 and XOI Co-administration in Uricase Treatment Failed Patients
This study will assess the effect of AR882 and XOI co-administration on sUA lowering as well as reducing tophus burden in the population that has failed uricase treatment (eg., pegloticase).
- Conditions
- Gout, Gouty Arthritis, Hyperuricemia, Gout Chronic
- Trial name
- NCT07116746
- Testing
- AR882 75 mg, XOI Low Dose, XOI High Dose
- Where
- 8 sites in United States
- Volunteers
- 15 people
- Sponsor
- Arthrosi Therapeutics
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
The purpose of this Phase 2, open-label, sequential dose cohort study is to evaluate the safety, efficacy, and pharmacokinetics (PK) of atumelnant (CRN04894) in participants with classic congenital adrenal hyperplasia (CAH)…
- Trial name
- NCT05907291
- Testing
- atumelnant (CRN04894)
- Where
- 27 sites in United States, Argentina and 5 more
- Volunteers
- 38 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Smith-Lemli-Opitz Syndrome, Pregnancy
Prenatal Screening For Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS.
- Trial name
- NCT00070850
- Where
- United States
- Volunteers
- 1,800 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fabry Disease
Anderson Fabry Disease - the Power of Information.
The goal of this before-after control-impact study is to determine whether providing targeted information on Fabry disease (FD) to cardiologists and tutoring them in the evaluation of patients with unexplained left ventricle…
- Trial name
- NCT07136662
- Testing
- educational
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Nasopharyngeal Carcinoma
Study of Cytolytic Viral Activation Therapy (CVAT) for Recurrent/Metastatic Nasopharyngeal Carcinoma
Nasopharyngeal carcinoma (NPC) is an Epstein-Barr virus(EBV) related malignancy and is an endemic disease in Southeast Asian countries.
- Trial name
- NCT02761291
- Testing
- Gemcitabine, Valproic acid, Valganciclovir
- Where
- Taiwan
- Volunteers
- 18 people
- Sponsor
- Chang Gung Memorial Hospital
Phenylketonurias
Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)
This research investigates the effects of combining a phenylalanine restricted diet (usual care) with LNAA supplementation (adjuvant LNAA) in well-controlled adults with classical PKU.
- Trial name
- NCT05174559
- Testing
- PreKUnil® LNAA Medical Food for PKU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Southern California
Synovial Diseases, Pigmented Villonodular Synovitis
Clinical Study of Magnetic Resonance Imaging and Deep Learning of Joint Synovial Disease
Through the high-throughput feature extraction of magnetic resonance images, the deep learning prediction model of joint synovial lesions is constructed used for the diagnosis, differential diagnosis and curative effect…
- Conditions
- Synovial Diseases, Pigmented Villonodular Synovitis, Gout, Rheumatoid Arthritis
- Trial name
- NCT04952896
- Testing
- Synovitis diagnosis
- Where
- China
- Volunteers
- 350 people
- Sponsor
- Peking University Third Hospital
Gaucher Disease Type I, Oxidative Stress
Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease
The objective of this study is to evaluate oxidative stress and/or inflammation in patients with Gaucher disease type I using a series of biomarkers and correlate with measurements of currently used diagnostic biomarkers.
- Conditions
- Gaucher Disease Type I, Oxidative Stress, Inflammation
- Trial name
- NCT02437396
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- University of Minnesota
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Hyperphenylalaninemia, Phenylketonuria
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone…
- Trial name
- NCT01541397
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Congenital Adrenal Hyperplasia
A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH
Subjects completing study DIUR-005 and those who have already completed study DIUR-003 will be offered the opportunity either to continue Chronocort® therapy or to switch from their current glucocorticoid therapy to Chronocort®…
- Trial name
- NCT03062280
- Testing
- Hydrocortisone
- Where
- United States
- Volunteers
- 91 people
- Sponsor
- Neurocrine UK Limited
Coronary Artery Disease, Atherosclerosis
Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease
This study is a phase 1, intravenous, open-label, single-dose escalation study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of ACP-501 (recombinant human Lecithin Cholesterol Acyl Transferase…
- Trial name
- NCT01554800
- Testing
- ACP-501
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- MedImmune LLC
Methylmalonic Acidemia, Propionic Acidemia
"The MaP Study": Mapping the Patient Journey in MMA and PA
Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to…
- Trial name
- NCT03484767
- Where
- 17 sites in United States, France and 2 more
- Volunteers
- 97 people
- Sponsor
- ModernaTX, Inc.
Sanfilippo Syndrome B
Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome
This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B syndrome.
- Trial name
- NCT03300453
- Testing
- rAAV2/5-hNAGLU
- Where
- France
- Volunteers
- 4 people
- Sponsor
- UniQure Biopharma B.V.
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Calcitriol Monotherapy for X-Linked Hypophosphatemia
Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy.
- Conditions
- X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
- Trial name
- NCT03748966
- Testing
- Calcitriol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Massachusetts General Hospital
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
Living Kidney Donation, Living Kidney Donor
Long-Term Risk of Gout in Living Kidney Donors
This population-based, matched, retrospective cohort study will evaluate the long-term risk of gout among living kidney donors compared with matched healthy nondonors, using linked administrative health care databases from…
- Conditions
- Living Kidney Donation, Living Kidney Donor, Gout, Gout and Hyperuricemia
- Trial name
- NCT07546643
- Testing
- Living kidney donation
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Homozygous Familial Hypercholesterolemia
Comparisons of Two Low-density Lipoprotein Apheresis Systems in Patients With Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is characterized by a six- to eight-fold raise in plasma LDL-cholesterol (LDL-C) concentrations and atherosclerotic coronary artery disease usually occur before the age of 20 if…
- Trial name
- APHERESE (NCT02286596)
- Testing
- heparin-induced extracorporeal LDL precipitation, dextran sulfate adsorption
- Where
- Canada
- Volunteers
- 9 people
- Sponsor
- Laval University
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