Clinical trials: Metabolism, Inborn Errors
Iron Overload, Hereditary Hemochromatosis
Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis
Brief Summary: This study was designed to explore a safe dose and characterize the preliminary safety and efficacy of ICL670 in adult patients with previously documented history of homozygous C282Y.
- Trial name
- NCT00395629
- Testing
- Deferasirox (ICL670)
- Where
- 18 sites in United States, Australia and 4 more
- Volunteers
- 49 people
- Sponsor
- Novartis Pharmaceuticals
Wilson Disease
A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease
The assumption is that in some of the carriers, the increase in enzymes reflects tissue damage due to excess copper. The reduction of the amount of copper absorbed will decrease excess copper in the liver, which will result in a…
- Trial name
- NCT03659331
- Testing
- Zinc
- Volunteers
- 50 people
- Sponsor
- Prof. Elon Pras
Mucopolysaccharidoses
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) are a group of inherited, metabolic diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs).
- Trial name
- RespiGAG (NCT04112602)
- Testing
- Sputum, Tracheal aspiration
- Where
- 7 sites in France
- Volunteers
- 27 people
- Sponsor
- University Hospital, Tours
Systemic Lupus Erythematosus, Sjogren's Syndrome
COVID-19 Vaccination in Rheumatic Disease Patients
The research is being done to study the immune responses to COVID-19 vaccination in patients with rheumatic diseases.
- Conditions
- Systemic Lupus Erythematosus, Sjogren's Syndrome, Inflammatory Myositis, Psoriatic Arthritis
- Trial name
- NCT04839315
- Testing
- mRNA COVD19 vaccine
- Where
- United States
- Volunteers
- 58 people
- Sponsor
- Mayo Clinic
DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG
Assessing the Safety and Tolerability of NMN in DHDDS-CDG
The primary objective of this study is to evaluate the safety and tolerability of the dietary supplement, nicotinamide mononucleotide (NMN), in individuals with dehydrodolichol diphosphate synthase congenital disorder of…
- Conditions
- DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
- Trial name
- NCT07572825
- Testing
- Nicotinamide Mononucleotide (NMN) Nucleosidase
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Eva Morava-Kozicz
Fabry Disease
A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease
Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to cut down fat-like substances.
- Trial name
- NCT07187440
- Testing
- No intervention
- Where
- 18 sites in China
- Volunteers
- 200 people
- Sponsor
- Takeda
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Exercise Intolerance Study
Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
- Trial name
- FEISTY (NCT05413876)
- Testing
- Intermittent cardiopulmonary exercise test, Incremental cardiopulmonary exercise test
- Where
- Netherlands
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Cytomegalovirus Retinitis, HIV Infections
The Safety and Effectiveness of Ganciclovir Used Alone or in Combination With Granulocyte-Macrophage Colony Stimulating Factor in the Treatment of Cytomegalovirus (CMV) of the Eye in Patients With AIDS
AMENDED: To evaluate the effect of sargramostim ( GM-CSF ) on modulating the granulocytopenia associated with concomitant DHPG and AZT therapy ( Phase B ), in terms of time to development of granulocytopenia as defined by an…
- Trial name
- NCT00000989
- Testing
- Zidovudine, Sargramostim, Ganciclovir
- Where
- 4 sites in United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Fructose Intolerance
Observational Study on the Safety and Efficacy of the Medical Product Fructosin.
Fructosin® is a medical device for use in fructose intolerance. In this uncontrolled posdt market clinical follow up (PMCF) study, the safety and efficacy of oral supplementation of Fructosin® in fructose intolerance will be…
- Trial name
- NCT06044389
- Testing
- Fructosin
- Where
- Austria
- Volunteers
- 60 people
- Sponsor
- Sciotec Diagnostic Technologies GmbH
Phenylketonuria
Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.
- Trial name
- NCT00244218
- Testing
- tetrahydrobiopterin (BH4)
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- The University of Texas Medical Branch, Galveston
X-Linked Hypophosphatemia
Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
The primary objectives of the study are to: Establish the safety profile of KRN23 for the treatment of XLH in children between 1 and 4 years old Determine the PD effects of KRN23 treatment on serum phosphorus and other PD markers…
- Trial name
- NCT02750618
- Testing
- Burosumab
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Kyowa Kirin, Inc.
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Primary Hypercholesterolemia and Homozygous Familial Hypercholesterolemia (HoFH)
Vytorin Reexamination Study (0653A-174)
This survey is conducted for preparing application material for re-examination under the Pharmaceutical Affairs Laws and its Enforcement Regulation, its aim is to reconfirm the clinical usefulness of VYTORIN through collecting…
- Trial name
- NCT01070966
- Volunteers
- 2,089 people
- Sponsor
- Organon and Co
Pompe Disease, Glycogen Storage Disease II
Pompe Telemedicine Developmental Study
The primary purpose of this study is to: Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive…
- Trial name
- NCT02950298
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Gout
Virtual Gout Clinic
The overarching goal of the investigators project is to identify best practices in gout and hyperuricemia management, translate these evidence-based practices into a highly generalizable strategy for optimal delivery of gout…
- Trial name
- NCT02790463
- Testing
- Pharmacist-Led Intervention
- Where
- 2 sites in United States
- Volunteers
- 1,463 people
- Sponsor
- University of Alabama at Birmingham
Gaucher Disease
A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers
Primary Objective: To compare the pharmacokinetics of Abcertin to the reference product, EU-sourced Cerezyme, after single intravenous administration of 60 IU/kg.
- Trial name
- NCT04787887
- Testing
- Abcertin, EU-sourced Cerezyme
- Where
- Australia
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
MPS IV A
A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
This Phase 3 study will evaluate the efficacy and safety of 2.0 mg/kg/week BMN 110 and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome).
- Trial name
- NCT01275066
- Testing
- BMN 110 Weekly, BMN 110 Every Other Week
- Where
- 28 sites in United States, Argentina and 15 more
- Volunteers
- 177 people
- Sponsor
- BioMarin Pharmaceutical
Achondroplasia
A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
Approximately 63 participants will be randomized to one of three doses to receive Recifercept either Low Dose Medium Dose High Dose Participants will will attend the clinic at baseline and at Day 1, 4, 8, 15, 29 \& then Month 2…
- Trial name
- NCT04638153
- Testing
- Recifercept
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 60 people
- Sponsor
- Pfizer
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
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