Clinical trials: Metabolism, Inborn Errors
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Congenital Adrenal Hyperplasia
Tweens to Teens Project at Penn State
The goal of this study is to help investigators to understand more about the development of characteristics related to being male or female (what is called gender development).
- Trial name
- T2T@PSU (NCT01184651)
- Testing
- Questionnaires/Interviews
- Where
- United States
- Volunteers
- 188 people, healthy volunteers welcome
- Sponsor
- Penn State University
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
Sanfilippo Syndrome Type D
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
Gout, Arthritis, Gouty
Phase 3 Evaluation of Efficacy and Safety of AR882 in Gout Patients (AR882-302)
This study will assess the serum uric acid lowering effect and safety of AR882 in gout patients at two doses compared to placebo over 12 months
- Conditions
- Gout, Arthritis, Gouty, Hyperuricemia, Gout Chronic
- Trial name
- NCT06439602
- Testing
- AR882 50 mg, AR882 75 mg
- Where
- 68 sites in United States, Australia and 3 more
- Volunteers
- 818 people
- Sponsor
- Arthrosi Therapeutics
Age-Related Macular Degeneration, Macular Degeneration
Repeated Eye Injections of Aflibercept for Treatment of Wet Age Related Macular Degeneration
To evaluate the visual outcome and number of injections required during an optical coherence tomography (OCT)-guided treat and extend regimen with intravitreal aflibercept for treatment of subfoveal neovascular age-related…
- Trial name
- ATLAS (NCT01773954)
- Testing
- Intravitreal Aflibercept Injection
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- MidAtlantic Retina
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Primary Hyperoxaluria, Dent Disease
Rare Kidney Stone Consortium Patient Registry
The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency.
- Conditions
- Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
- Trial name
- RKSC (NCT00588562)
- Where
- 4 sites in United States, Iceland
- Volunteers
- 730 people
- Sponsor
- Mayo Clinic
Late Onset Pompe Disease, Pompe Disease
Search for Serum/Plasma Biomarkers in Pompe's Disease
This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease.
- Trial name
- BIOPOMPE (NCT03045042)
- Testing
- Enzyme Replacement Agent
- Where
- Spain
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Phenylketonuria
A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
The primary objective of the study is to evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of…
- Trial name
- NCT01560286
- Testing
- BMN 165 (rAvPAL-PEG)
- Where
- 6 sites in United States
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
Gout
Tigulixostat (IBI128) vs Febuxostat in Gout
The primary purpose of this study is to compare the efficacy of Tigulixostat (IBI128) versus Febuxostat on the proportion of Chinese adults with gout achieving a serum uric acid (sUA) level < 360 μmol/L at Week 24.
- Trial name
- NCT07414394
- Testing
- Febuxostat, Tigulixostat
- Where
- China
- Volunteers
- 600 people
- Sponsor
- Innovent Biologics Technology Limited (Shanghai R&D Center)
Wilson's Disease
Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base…
- Trial name
- NCT06128954
- Testing
- 900mg TETA 4HCl Once Daily Formulation, 900mg TETA 4HCl Cuprior®
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Orphalan
Phenylketonurias
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU
The goal of the proposed study is to elucidate neurologic and neuropsychological improvements associated with Palynziq-related reduction in plasma Phe levels in individuals with PKU.
- Trial name
- NCT05356377
- Testing
- Pegvaliase-Pqpz
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- University of Missouri-Columbia
Lipodystrophy, Diabetes
Low Energy Diet and Familial Partial Lipodystrophy
To evaluate the therapeutic efficacy and metabolic impact of a low energy diet (LED) in people with familial partial lipodystrophy and diabetes.
- Conditions
- Lipodystrophy, Diabetes, Diet Modification
- Trial name
- NCT03900286
- Testing
- Total Dietary Replacement
- Where
- United Kingdom
- Volunteers
- 9 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Chronic Liver Disease
An Observational Study Evaluating Patients With Chronic Liver Diseases Associated With Hepatic Steatosis
Hepatic steatosis may cause inflammation and fibrosis within the liver potentially leading to end-stage liver disease cirrhosis, liver failure and death.
- Trial name
- FALL (NCT05335603)
- Where
- Denmark
- Volunteers
- 335 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Dyslipidemias, High Cholesterol
Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
This study will be a placebo-controlled, double-blind, randomized, phase 3 study in participants with underlying heterozygous familial hypercholesterolemia (HeFH) and/or ASCVD to evaluate the efficacy, safety, and tolerability of…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROADWAY (NCT05142722)
- Testing
- Obicetrapib
- Where
- 181 sites in United States, China and 6 more
- Volunteers
- 2,530 people
- Sponsor
- NewAmsterdam Pharma
Lipid Metabolism, Inborn Errors, Heart Disease
Sitosterolemia Extension Study (0653-004)(COMPLETED)
This is an extension study for patients having unusually high absorption of non-cholesterol sterols, resulting in heart-related diseases.
- Trial name
- NCT00092820
- Testing
- MK0653, ezetimibe
- Volunteers
- 58 people
- Sponsor
- Organon and Co
Fabry Disease
Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
The purpose of this research project is: to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD to use fMRI to identify altered brain function to use FBFI and fMRI together to…
- Trial name
- NCT03678324
- Testing
- Functional MRI and fast bound-pool fraction imaging
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Utah
Alpha-Mannosidosis
Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
The main objectives of the study are to evaluate safety and efficacy of repeated treatment with recombinant human alfa-mannosidase of patients with alfa-mannosidosis aged less than 6 years
- Trial name
- rhLaman-08 (NCT02998879)
- Testing
- Velmanase Alfa (e.g. Lamazym)
- Where
- 6 sites in Austria, Denmark and 3 more
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
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