Clinical trials: Natural History
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in…
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Trial name
- NCT01780168
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Clostridium Difficile Infection, Health Care Associated Infection
Natural History of Clostridioides Difficile Infection
Aim: To investigate if host factors, such as composition and diversity of intestinal microbiota and/or genetic determinants, are associated with a higher risk of recurrence of Clostridioides difficile infection (CDI).
- Conditions
- Clostridium Difficile Infection, Health Care Associated Infection, Nosocomial Infection
- Trial name
- NCT04801862
- Where
- 15 sites in Spain
- Volunteers
- 750 people
- Sponsor
- Hospital Universitario de Valme
Autoimmune/Connective Tissue Diseases, Idiopathic Inflammatory Myopathies
Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
This study will define the major genetic risk and protective factors for idiopathic inflammatory myopathies (IIM), a group of immune disorders affecting connective tissues such as muscles.
- Conditions
- Autoimmune/Connective Tissue Diseases, Idiopathic Inflammatory Myopathies, Polymyositis, Dermatomyositis
- Trial name
- NCT00341679
- Where
- United States
- Volunteers
- 719 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Primary Hyperoxaluria Type 3
Natural History of Patients With PH3 and a History of Stone Events
This is a natural history study of adults, adolescents, and children (starting at birth) with genetically confirmed primary hyperoxaluria type 3 (PH3) who have a history of stone events during the last 3 years and/or the presence…
- Trial name
- PHYOX-OBX (NCT04542590)
- Where
- 6 sites in United States, Canada and 3 more
- Volunteers
- 7 people
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Traumatic Brain Injury (Tbi), Traumatic Meningeal Enhancement (Tme)
Imaging Characterization of the Biomechanical Coupling of Brain and Skull
Background: Traumatic brain injury (TBI) affects over 1.7 million people in the United States each year. Many cases are mild, but people with a history of TBI may have long-term symptoms; they are also known to be more…
- Trial name
- NCT05675423
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
Tay-Sachs Disease, Sandhoff Disease
A Natural History Study of the Gangliosidoses
Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis…
- Conditions
- Tay-Sachs Disease, Sandhoff Disease, Late Onset Tay-Sachs Disease, GM1 Gangliosidosis
- Trial name
- NCT00668187
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- University of Minnesota
Macular Degeneration, Age-Related Macular Degeneration
The Focal Electro-Oculogram in Macular Disease
Background: Maculopathies are eye conditions that affect the center of the retina. Retina health depends on the retinal pigment epithelium (RPE), a layer behind the retina.
- Trial name
- NCT02225119
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- National Eye Institute (NEI)
Sickle Cell Anemia, Sickle Cell Thalassemia
Investigating the Mechanistic Effects of Mitapivat in Subjects With Sickle Cell Disease
Background: Sickle cell disease (SCD) is an inherited blood disorder. The disease affects the ability of red blood cells to carry oxygen; this in turn can injure organs including the heart, lungs, and kidneys.
- Conditions
- Sickle Cell Anemia, Sickle Cell Thalassemia, Sickle Cell Pain, Hbss
- Trial name
- NCT05675436
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Age-Related Macular Degeneration
AMD Ryan Initiative Study (ARIS)
Objective: To learn more about AMD. Eligibility: People ages 55 and older with any of the following: Early AMD RPD Healthy eyes Design: Participants will be screened with: Eye exam: The pupil will be dilated with eye drops.
- Trial name
- NCT03092492
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Eye Institute (NEI)
Leukemia, Multiple Myeloma
Genome Expression in Lymphoma, Leukemia and Multiple Myeloma
This study will use genomics-based technology, such as DNA microarrays, to more precisely diagnose subsets of lymphoma, leukemia and multiple myeloma patients.
- Conditions
- Leukemia, Multiple Myeloma, Hodgkin Lymphoma, Lymphoma, Non-Hodgkin
- Trial name
- NCT00339963
- Where
- United States
- Volunteers
- 1,340 people
- Sponsor
- National Cancer Institute (NCI)
Keloid
Web Based Investigation of Natural History of Keloid Disorder, an Online Survey
This trial intends to gather very basic clinical information about keloid, its patterns of presentation, family history, ethnic background and correlation with the type of keloid, as well as prior treatment results that patients…
- Trial name
- NCT01423981
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Tirgan, Michael H., M.D.
Nervous System Diseases
Cerebrospinal Fluid Collection and Repository Storage
Background: Cerebrospinal fluid (CSF) is the liquid around the brain and spinal cord. Many diseases can only be diagnosed by examining the CSF. A lumbar puncture is used to collect and test CSF.
- Trial name
- NCT01862107
- Where
- United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
VWD - Von Willebrand's Disease
The Severe Von Willebrand Disease (sVWD) Patient Registry
A web-based registry will be created by the sponsor, VWD Connect Foundation (VCF), to collect data on patients with severe Von Willebrand Disease (sVWD).
- Trial name
- NCT05437536
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- VWD Connect Foundation
Metachromatic Leukodystrophy
The Natural History of Metachromatic Leukodystrophy Study (HOME Study)
The primary aims of the HOME Study are to: Design and implement a natural history study for metachromatic leukodystrophy to serve as a source of external control data, to augment or replace concurrent controls in clinical trials…
- Trial name
- NCT04628364
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- National Organization for Rare Disorders
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets
- Trial name
- NCT07745179
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 23 people
- Sponsor
- Inozyme Pharma
Genetic Disease, Immune Dysfunction
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
Type I interferonopathies are rare autoinflammatory disorders caused by genetic defects and associated with significant morbidity and mortality. These diseases are refractory to conventional immunosuppressive therapies.
- Conditions
- Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions, Autoimmune Diseases
- Trial name
- EU-IFNp (NCT07040774)
- Where
- 32 sites in Austria, Belgium and 9 more
- Volunteers
- 500 people
- Sponsor
- Imagine Institute
Graft vs Host Disease, Healthy Volunteer
Collection of Saliva and/ or Peripheral Blood From Healthy Volunteers for Research
Background: Researchers often collect samples from healthy volunteers to further their research. These samples can help better understand serious side effects and complications of transplant treatments in patients.
- Conditions
- Graft vs Host Disease, Healthy Volunteer, Graft-Versus-Host Disease
- Trial name
- NCT01851382
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- National Cancer Institute (NCI)
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Background: Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly.
- Trial name
- NCT02089789
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pregnancy, Preterm Birth
Cervical Volume by Three-Dimensional Ultrasound as a Predictor of Preterm Delivery
Preterm labor is a leading cause of perinatal morbidity and mortality. Several investigators have reported that ultrasound evaluation of the cervix can predict the risk of preterm delivery.
- Conditions
- Pregnancy, Preterm Birth, Cervical Length Measurement
- Trial name
- NCT00342550
- Where
- United States
- Volunteers
- 648 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Wolman Disease, Cholesterol Ester Storage Disease
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials.
- Conditions
- Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Trial name
- NCT01884220
- Testing
- There are no interventions in this study.
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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