Clinical trials: Natural History
Male Factor Infertility, Female Factor Infertility
The Clinical Study of Sex Chromosome Variants
Purpose/Lay Summary: Background: Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility…
- Trial name
- NCT01661010
- Where
- United States
- Volunteers
- 112 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Isolated Distal DVT, Proximal DVT
Natural History of Isolated Deep Vein Thrombosis of the Calf
Whether isolated distal DVT (IDDVT), DVT confined to the calf, should be looked for and diagnosed to allow them to be treated with anticoagulants remains one of the still unsolved issues in vascular medicine, especially because…
- Conditions
- Isolated Distal DVT, Proximal DVT, Pulmonary Embolism
- Trial name
- CALTHRO (NCT00816920)
- Testing
- Ultrasound examination of leg veins
- Where
- 2 sites in Italy
- Volunteers
- 500 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Facioscapulohumeral Muscular Dystrophy Type 2
An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric region of chromosome 4q35…
- Trial name
- INSIGHT FSHD2 (NCT06079567)
- Testing
- Validation of new COMs for FSHD2 patients
- Where
- 9 sites in Belgium, France and 3 more
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Cervical Intraepithelial Neoplasia, Cervical Neoplasms
Gene Therapy Follow up Protocol for Subjects Previously Enrolled in NCI Center for Immuno-Oncology Studies
Background: Gene therapy is closely followed by the U.S. Food and Drug Administration (FDA). The FDA requires researchers to conduct long-term follow-up of people who have had the treatment.
- Conditions
- Cervical Intraepithelial Neoplasia, Cervical Neoplasms, Oropharyngeal Neoplasms, Squamous Intraepithelial Lesions of the Cervix
- Trial name
- NCT04266093
- Testing
- GeneTherapy
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Cancer Institute (NCI)
Gastroesophageal Reflux
Natural History of Gastroesophageal Reflux (GER) in Children and Adolescents
The goal of this project is to determine the long-term health outcome of children diagnosed with gastroesophageal reflux (GER). We are inviting subjects that were previously followed in the Pediatric GI programs at Massachusetts…
- Trial name
- NCT00181805
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
GNAO1
GNAO1 Natural History Study
The purpose of the GNAO1 Natural History Study is to establish the clinical phenotype of GNAO1 associated neurologic disease, its association with genotype, and areas of clinical importance within the disease.
- Trial name
- GNAO1 (NCT04950946)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Washington University School of Medicine
LCAT Deficiency
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
The purpose of the LCAT (Lecithin cholesterol acyl transferase) Natural History Study (LCAT NHS) is to help identify people with a mutation in a gene called LCAT, collect and store information about their medical history and…
- Trial name
- LCAT NHS (NCT06217588)
- Testing
- Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Pennsylvania
End-Stage Renal Disease, Stroke
Assessing Cognitive fUnction and MEasuring the Cerebral circulatioN on HaemoDialysis
Stroke disease and cognitive impairment are common in patients established on haemodialysis (HD) for end-stage renal disease (ESRD). Further, initiation of HD appears to transiently increase the risk of stroke.
- Conditions
- End-Stage Renal Disease, Stroke, Cognition Disorders
- Trial name
- ACUMEN-HD (NCT02393222)
- Testing
- Observing effect of routine HD
- Volunteers
- 97 people
- Sponsor
- NHS Greater Glasgow and Clyde
Paroxysmal Nocturnal Hemoglobinuria, Natural History Study
Natural History Study of Adult Patients With Paroxysmal Nocturnal Hemoglobinuria of High-risk Hemolysis in China
This is a single-center observational study conducted in adult patients with paroxysmal nocturnal hemoglobinuria of high-risk hemolysis.
- Trial name
- NCT05125341
- Where
- China
- Volunteers
- 67 people
- Sponsor
- CARE Pharma Shanghai Ltd.
Duchenne Muscular Dystrophy
A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD)
The primary objective of this study is to evaluate the safety of a 0.9 milligrams per kilogram (mg/kg) and 0.45 mg/kg daily dose of deflazacort with a comparable natural history control group after 52 weeks of treatment in males…
- Trial name
- PTCEMF (NCT03642145)
- Testing
- Deflazacort
- Sponsor
- PTC Therapeutics
Attention Deficit Hyperactivity Disorder, Schizophrenia
Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution.
- Conditions
- Attention Deficit Hyperactivity Disorder, Schizophrenia, Attention Deficit Disorder With Hyperactivity
- Trial name
- NCT00001246
- Where
- United States
- Volunteers
- 4,276 people
- Sponsor
- National Institute of Mental Health (NIMH)
Sanfilippo Syndrome Type D
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
COVID-19 Infection, Hematopoietic and Lymphatic System Neoplasm
NCI COVID-19 in Cancer Patients, NCCAPS Study
This study collects blood samples, medical information, and medical images from patients who are being treated for cancer and have a positive test for SARS CoV-2, the new coronavirus that causes the disease called COVID-19.
- Conditions
- COVID-19 Infection, Hematopoietic and Lymphatic System Neoplasm, Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT04387656
- Testing
- Biospecimen Collection, Data Collection, Quality-of-Life Assessment
- Where
- 932 sites in United States, Canada and 1 more
- Volunteers
- 1,877 people
- Sponsor
- National Cancer Institute (NCI)
Von Hippel-Lindau Disease, Central Nervous System Hemangioblastoma
Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas
Von Hippel-Lindau (VHL) disease is a rare hereditary cancer predisposition syndrome associated with the development of central nervous system hemangioblastomas from childhood.
- Trial name
- VHL-PED-CHB (NCT07705529)
- Where
- 3 sites in France
- Volunteers
- 25 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cardiovascular Disease, Hypertension
RNA Sequencing in the Framingham Heart Study Third Generation Cohort Exam 2
Background: The Framingham Heart Study (FHS) was initiated by the U.S Public Health Service in 1948 and turned over to the newly established National Heart Institute in 1951.
- Trial name
- NCT03225183
- Where
- United States
- Volunteers
- 1,700 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Von Hippel-Lindau Disease
Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease
Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. These tumors are more aggressive in some people than in others.
- Trial name
- NCT00062166
- Where
- United States
- Volunteers
- 340 people
- Sponsor
- National Cancer Institute (NCI)
Sleep Disordered Breathing, Obstructive Sleep Apnea
The Natural History and Outcome of Sleep Disordered Breathing in Children
Sleep-disordered breathing in children is characterized by recurrent events of partial or complete upper airway obstruction during sleep, resulting in disruption of normal gas exchange (intermittent hypoxia and hypercapnia) and…
- Trial name
- NCT02043353
- Where
- Israel
- Volunteers
- 2,856 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Clonal Hematopoiesis of Indeterminate Potential, Clonal Cytopenia of Undetermined Significance
CHIP/CCUS Natural History Protocol
Background: Clonal Hematopoiesis of Indeterminate Potential (CHIP) is a change in a person s DNA that can increase a person s risk of developing blood cancers or cardiovascular disease. CHIP occurs mostly occurs in older people.
- Trial name
- NCT04102423
- Where
- United States
- Volunteers
- 306 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Waldenstrom Macroglobulinemia, Chronic Lymphocytic Leukemia
Clinical, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Hematologic Cancer
Background: Individuals may be prone to develop blood or lymph node cancers (leukemia or lymphoma) for a variety of reasons, including genetic predisposition to these cancers, environmental exposures or other medical conditions.
- Conditions
- Waldenstrom Macroglobulinemia, Chronic Lymphocytic Leukemia, Hodgkin Disease, NonHodgkin Lymphoma
- Trial name
- NCT00039676
- Where
- 2 sites in United States
- Volunteers
- 1,836 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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