Clinical trials: Inborn Errors of Metabolism
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Familial Hypercholesterolemia
Soy Food Intervention Trial
Familial hypercholesterolemia (FH MIM#143890), an inherited disorder of lipoprotein metabolism, is a risk for early cardiovascular disease (CVD).
- Trial name
- SOYFIT (NCT00924339)
- Testing
- soy protein diet, rapeseed oil
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- Medical University of Vienna
Wilson Disease, D-Penicillamine
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea…
- Conditions
- Wilson Disease, D-Penicillamine, Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient
- Trial name
- WILDERME (NCT06945081)
- Testing
- Preparation of forearm molds with SILFLO® silicone
- Where
- 2 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Cardiac Amyloidosis, Cardiac Disease
High Resolution Three-dimensional Maps of the Right Chambers in Patient Diagnosed With Cardiac Amyloidosis
Amyloid heart disease is an accumulation of fibrillar proteins in the extracellular sector of the heart. Identified on echocardiography as Ventricular hypertrophy.
- Trial name
- CARTO-AMYLO (NCT04956965)
- Testing
- Cardiac electro-mapping
- Where
- Martinique
- Volunteers
- 24 people
- Sponsor
- University Hospital Center of Martinique
Urea Cycle Disorder, Lysinuric Protein Intolerance
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn…
- Trial name
- NCT05706714
- Where
- Turkey (Türkiye)
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Hematologic Malignancies, Nonmalignant Diseases
Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)
Fludarabine and clofarabine are chemotherapy drugs used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of clofarabine and…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- NCT03609814
- Testing
- Clofarabine, Fludarabine Injection
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, San Francisco
Essential Hypertension
Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.
- Trial name
- NCT01848873
- Testing
- Amlodipine, amlodipine-FA tablet, low dose group, amlodipine-FA tablet ,high dose group
- Where
- 16 sites in China
- Volunteers
- 756 people
- Sponsor
- Shenzhen Ausa Pharmed Co.,Ltd
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Biotinidase Deficiency
Study of ORL-1B in Patients With Biotinidase Deficiency
An Open-label, Single-arm, Phase 2 Study of Biotin in Patients With Biotinidase Deficiency.
- Trial name
- NCT03269045
- Testing
- ORL-1B
- Volunteers
- 20 people
- Sponsor
- Orpha Labs
Developmental Delay, Skeletal Abnormalities
Biomarker for Sly Disease (MPS VII) (BioSly)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)
- Conditions
- Developmental Delay, Skeletal Abnormalities, Hepatomegaly, Splenomegaly
- Trial name
- BioSly (NCT02298699)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Gas and Bloating, Diarrhea
Radicle GI Health RDH™: A Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
A Randomized, Double-Blind, Placebo-Controlled Direct-to-Consumer Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
- Conditions
- Gas and Bloating, Diarrhea, Constipation
- Trial name
- NCT07230821
- Testing
- GI Health Active Product 1
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Radicle Science
Galactosemia, Premature Ovarian Failure
Inactive FSH in Galactosemia
The aim of the study is to investigate whether inactive FSH plays a role in the development of Premature Ovarian Failure in women with Classic Galactosemia
- Trial name
- NCT00619333
- Testing
- follitropin and lutropin
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Tyrosinemia I
Study of NTBC for Tyrosinemia I
OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver…
- Trial name
- NCT00004443
- Testing
- NTBC
- Where
- 3 sites in United States, Canada
- Volunteers
- 20 people
- Sponsor
- University of Washington
Glycogen Storage Disease Type II
Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset…
- Trial name
- APOLLO-IOPD (NCT03687333)
- Testing
- ALGLUCOSIDASE ALFA (MYOZYME)
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Genzyme, a Sanofi Company
Cardiac Amyloidosis
Mitochondrial Function in Transthyretin Amyloidosis
Hereditary (familial) amyloidosis arising from the misfolding of a mutated or variant transthyretin, is the most frequent form of amyloid cardiomyopathy in the Caribbean basin.
- Trial name
- MIT-Amylose (NCT03328338)
- Where
- Martinique
- Volunteers
- 12 people
- Sponsor
- University Hospital Center of Martinique
Metabolic Disorder, Arginine; Hyperaminoaciduria
Evaluation of Arginine in Periodontal and Cardiovascular Disease
Asymmetric dimethylarginine (ADMA) plays a key role in endothelial function and may be a link for the known interaction of periodontitis and coronary heart disease (CHD).
- Trial name
- NCT03873948
- Testing
- Evaluation of arginine serum level
- Where
- Italy
- Volunteers
- 141 people, healthy volunteers welcome
- Sponsor
- University of Messina
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1
GSD VI and GSD IX Natural History
Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
- Conditions
- Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB
- Trial name
- NCT04454216
- Testing
- No intervention
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors
Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population.
- Conditions
- Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors, Glucose Metabolism Disorders
- Trial name
- NCT02979106
- Testing
- Test meal
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 119 sites in United States, Argentina and 30 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
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