Clinical trials: Metabolism, Inborn Errors
Brain Injuries, Congenital Heart Disease
Protecting Brains and Saving Futures - the PBSF Protocol
Background: Multiple neonatal disorders are associated with risks of neurological injury. Thus, management of these infants should involve a coordinated approach to permit early diagnosis with improved clinical care.
- Conditions
- Brain Injuries, Congenital Heart Disease, Newborn Morbidity, Intraventricular Hemorrhage
- Trial name
- PBSF (NCT03786497)
- Where
- 2 sites in Brazil
- Volunteers
- 2,268 people
- Sponsor
- Protecting Brains Saving Futures
Familial Hypercholesterolemia
Familial Hypercolerstremia as Risk Factor in Stemi Patient Who Underwent Ppci
Famulial hypercolerstremia as risk factor
- Trial name
- NCT03900169
- Testing
- Genetic
- Where
- Egypt
- Volunteers
- 2 people
- Sponsor
- Assiut University
Cardiac Amyloidosis
Identification of Prognostic Parameters in Patients With " Senile " Amyloid Cardiomyopathy
The aging of the population is a reality in our society, with a strong increase in the number of elderly patients hospitalized for heart failure in our institutions.
- Trial name
- EVAMYLOSE (NCT04225754)
- Where
- France
- Volunteers
- 142 people
- Sponsor
- University Hospital, Grenoble
Gout
A Study to Determine the Safety, Tolerability, PK and Preliminary PD of SSS11 in Chinese Healthy Adult Volunteers
To evaluate the safety, tolerability, PK and preliminary PD of SSS11 for injection in chinese healthy adult volunteers.
- Trial name
- NCT04047394
- Testing
- PEGylated recombinant candida urate oxidase
- Where
- China
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Shenyang Sunshine Pharmaceutical Co., LTD.
Phenylketonuria
A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria
The main goal of this study is to assess the safety, and tolerability of multiple doses of mRNA-3210 in participants with phenylketonuria (PKU).
- Trial name
- NCT06147856
- Testing
- mRNA-3210
- Sponsor
- ModernaTX, Inc.
Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis I (MPS I) Registry
The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I.
- Trial name
- NCT00144794
- Where
- 141 sites in United States, Argentina and 35 more
- Volunteers
- 1,406 people
- Sponsor
- Genzyme, a Sanofi Company
Familial Hypercholesterolaemia
Computerized Decision Support for Identification and Management of Familial Hypercholesterolemia
The goal of this clinical trial is to learn if a computer alert can aid clinicians in identifying patients with a genetic type of high cholesterol, called Familial Hypercholesterolemia.
- Trial name
- FH-ALERT (NCT06743659)
- Testing
- Alert-based computerized decision support
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Brigham and Women's Hospital
Adrenal Hyperplasia, Congenital, 21-hydroxylase Deficiency
Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.
The risk of adrenal insufficiency in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is not well documented.
- Trial name
- EVAF-21 (NCT01862380)
- Testing
- Functional explorations
- Where
- France
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Hyperoxaluria, Dent Disease
Rare Kidney Stone Consortium Biobank
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
- Conditions
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
- Trial name
- NCT02026388
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Mayo Clinic
Hyperuricemia, Gout
Safety, Tolerability and Pharmacokinetic/Pharmacodynamic Characteristics of LC350189
This will be a dose block-randomized, double-blind, active and placebo controlled, single and multiple dosing, dose-escalation study to evaluate tolerability, safety and pharmacokinetic / pharmacodynamic characteristics.
- Trial name
- NCT01361646
- Testing
- LC350189
- Where
- South Korea
- Volunteers
- 129 people, healthy volunteers welcome
- Sponsor
- LG Life Sciences
Glycogen Storage Disease Type II, Adult
Natural History of Pompe Disease
The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T>G mutation in the GAA gene will be followed-up during two years to describe the natural history using clinical, imaging…
- Trial name
- POMPE (NCT03564561)
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Lysosomal Storage Diseases, Metachromatic Leukodystrophy
OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human…
- Trial name
- NCT04283227
- Testing
- OTL-200
- Where
- Italy
- Volunteers
- 6 people
- Sponsor
- Orchard Therapeutics
Fabry Disease
An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease
This study will continue to evaluate the safety of using intravenous doses of Replagal for two patients with Fabry disease. Fabry disease is a genetic disorder inherited as an X-linked recessive trait.
- Trial name
- NCT00357786
- Testing
- Replagal agalsidase alfa, Replagal
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Familial Partial Lipodystrophy, Nonalcoholic Steatohepatitis
CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy
The study investigators' aim is to determine the long term safety and efficacy of Metreleptin (Myalept,) in promoting amelioration of metabolic abnormalities in patients with all forms of partial lipodystrophy.
- Conditions
- Familial Partial Lipodystrophy, Nonalcoholic Steatohepatitis, NAFLD
- Trial name
- NCT02654977
- Testing
- Metreleptin
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Michigan
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
Glycogen Storage Disease Type II, Pompe Disease
Pompe Disease Registry Protocol
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both…
- Trial name
- NCT00231400
- Where
- 282 sites in United States, Argentina and 42 more
- Volunteers
- 2,000 people
- Sponsor
- Genzyme, a Sanofi Company
Hereditary Hemochromatosis
A Study to Evaluate BBI-001 in Hereditary Haemochromatosis (HH) Patients and Iron Deficient Volunteers
This is a first in human, double-blind, randomized, placebo-controlled, two-arm crossover study evaluating the safety, tolerability and PD of ascending dose levels of BBI-001 after: a single administration in iron deficient male…
- Trial name
- NCT05238207
- Testing
- BBI-001, Original Fibre Metamucil
- Where
- Australia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bond Biosciences
Hemochromatosis Type 1
Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
Hemochromatosis type 1 is one of the most frequent genetic disease since the genetic predisposition (homozygosity for the C282Y mutation of the HFE gene) is encountered in about 3/1000 white subjects (5/1000 in Brittany, France).
- Trial name
- SAIFER (NCT01810965)
- Testing
- First evaluation phase : no intervention / Second evaluation phase: bloodletting of 7 ml/kg (with a maximum of 500ml)
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Rennes University Hospital
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