Clinical trials: Inherited Metabolic Disorders
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
Cystic Fibrosis, Glucose Metabolism Disorders
One Year Glargine Treatment in CFRD Children and Adolescents
Glargine treatment can improve the clinical features in Cystic Fibrosis patients affected by glucose derangements
- Trial name
- NCT00483769
- Testing
- Glargine
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Federico II University
Bloom Syndrome
Biological Significance of the Bloom's Syndrome Protein
Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors.
- Trial name
- NCT00021437
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
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
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
Pancreatogenic Diabetes Mellitus, Type 2 Diabetes Mellitus (T2DM)
Assessment of Pancreatic Dysfunction in Patients With Type 2 Diabetes
The goal of this observational study is to better understand how the pancreas works in adults with type 2 diabetes. The study focuses on both hormone production (endocrine function) and digestive function (exocrine function) of…
- Conditions
- Pancreatogenic Diabetes Mellitus, Type 2 Diabetes Mellitus (T2DM), Exocrine Pancreatic Insufficiency (EPI)
- Trial name
- T3cDM-AKT (NCT07512934)
- Where
- Kazakhstan
- Volunteers
- 310 people
- Sponsor
- West Kazakhstan Marat Ospanov Medical University
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
Leukemia, Lymphoma
Umbilical Cord Blood Stem Cell Transplant in Treating Patients With Hematologic Cancer or Other Disease
RATIONALE: Giving low doses of chemotherapy and total-body irradiation before a donor umbilical cord blood stem cell transplant helps stop the growth of cancer or abnormal cells.
- Conditions
- Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
- Trial name
- NCT00423826
- Testing
- Busulfan, Cytarabine, Fludarabine phosphate
- Where
- United States
- Sponsor
- Barbara Ann Karmanos Cancer Institute
Severe Combined Immunodeficiency
MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe combined immune deficiency (SCID) may result from inherited deficiency of the enzyme adenosine deaminase (ADA). Children with ADA-deficient SCID often die from infections in infancy, unless treated with either a bone…
- Trial name
- NCT00794508
- Testing
- ADA gene transfer
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Donald B. Kohn, M.D.
Overweight, Healthy
Specificities of the Eccentric Exercise: Energy Expenditure and Nature of Oxidized Substrates
Main objective of this clinical trial is to compare the oxidation rates of main carbohydrate and lipid substrates during exercises carried out in eccentric dynamic pedaling mode on a cycloergometer compared to concentric…
- Conditions
- Overweight, Healthy, Men
- Trial name
- Speed-Enso (NCT05319704)
- Testing
- Test of effort on cycle on concentric or excentric mode, Kinetics on concentric or excentric mode during test of effort
- Where
- France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University Hospital, Clermont-Ferrand
Cystic Fibrosis, Diabetes Mellitus
Increased Gluconeogenesis is One Cause of Cystic Fibrosis Related Diabetes (CFRD)
People with CF have a high incidence of diabetes, called CFRD. CFRD is an important cause of worsened morbidity and mortality, thus understanding the pathophysiology underlying its development is imperative.
- Trial name
- NCT00082238
- Testing
- Stable isotopes
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.