Clinical trials: Genetics Syndrome
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Corneal Dystrophy
Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects
The purpose of this study is to compare corneal endothelium morphology and central thickness in type II Diabetes Mellitus and normal subjects with special reference to glycemic status.
- Trial name
- NCT01084850
- Where
- Denmark
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Frederiksberg University Hospital
Sickle Cell Disease, Hemoglobinopathies
Non-Myeloablative Conditioning and Bone Marrow Transplantation
Allogeneic blood or marrow transplantation (alloBMT) is a curative therapy for a variety of hematologic disorders, including sickle cell disease and thalassemia.
- Trial name
- NCT01850108
- Testing
- Thymoglobulin, Fludarabine, Cyclophosphamide (CTX)
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Ehler's Danlos Syndrome, Obstructive Sleep Apnea
Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
- Trial name
- NCT02712060
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Hemophilia A, Hemophilia B
Gaining Insight Into the Complexity of Pain in Patients With Haemophilia
Joint pain has been reported as a major problem in people with haemophilia (PwH). Therefore, haemophilia in adults seems clinically more related to a musculoskeletal disorder than a bleeding disorder, with many patients reporting…
- Trial name
- NCT05606640
- Testing
- Biopsychological pain assessment
- Where
- 2 sites in Belgium
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Universiteit Antwerpen
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Huntington Disease
IMarkHD: in Vivo Longitudinal Imaging of HD Pathology
iMarkHD is an adaptive, longitudinal positron emission tomography (PET) and magnetic resonance (MR) imaging study in Huntington's disease (HD) that aims to assess abnormal molecular, functional, and structural changes in…
- Trial name
- NCT03434548
- Testing
- PET imaging, Multi-modal MRI imaging
- Where
- United Kingdom
- Volunteers
- 113 people, healthy volunteers welcome
- Sponsor
- King's College London
Retinal Diseases, Stargardt's Disease
Microcurrent Stimulation to Treat Macular Degeneration
Microcurrent stimulation thereapy improves retinal efficiency and may restore and/or improve retinal function.
- Conditions
- Retinal Diseases, Stargardt's Disease, Retinitis Pigmentosa
- Trial name
- NCT01790958
- Where
- 4 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Retina Institute of Hawaii
Sickle Cell Disease
Sickle Cell Pro-Inflammatory Response to Interval Training Study
Recommendations for exercise prescription currently do not exist for individuals with sickle cell anemia (SCA) despite the known impact that SCA-related complications has on physical functioning and fitness.
- Trial name
- SPRINTS (NCT03653676)
- Testing
- Exercise Test (CIIT)
- Where
- 3 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Cellulite
Treatment for Cellulite Appearance
Open-label, non-randomized, prospective, multi-center, self-controlled clinical study with masked evaluation.
- Trial name
- NCT05358847
- Testing
- Sofwave
- Where
- 4 sites in United States
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Skin Laxity
Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers
Up to 40 participants will be enrolled, randomized and treated. Enrolled participants will receive one, split-face Ulthera® treatment on the face and neck using a Ulthera System standard transducer on one side of the face and a…
- Trial name
- NCT02416076
- Testing
- Ulthera Treatment at EL2, Ulthera Treatment at EL4
- Where
- 3 sites in United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc
Retinitis Pigmentosa, Visual Impairment
Environmental Localization Mapping and Guidance for Visual Prosthesis Users
This study is driven by the hypothesis that independent navigation by blind users of visual prosthetic devices can be greatly aided by use of an autonomous navigational aid that provides information about the environment and…
- Conditions
- Retinitis Pigmentosa, Visual Impairment, Visual Prosthesis
- Trial name
- SLAM (NCT04359108)
- Testing
- Navigation system mode: Argus Vision, Navigation system mode: Depth Vision, Navigation system mode: Depth Vision with Haptic / Audio
- Where
- 2 sites in United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Von Willebrand Disease (VWD), Acquired Von Willebrand Disease
Endothelial Colony-Forming Cells in Patients With VWD, AVWS and Healthy Subjects
The goal of this observational study is to learn how endothelial colony-forming cells (ECFCs) behave in people with von Willebrand disease (VWD), acquired von Willebrand syndrome (AVWS), and in healthy individuals.
- Trial name
- ECFCs/2022 (NCT07358013)
- Testing
- Blood sample collection for VWF measurements in plasma, Blood sample collection for ECFC isolation and characterization, Genetic testing of VWF
- Where
- Italy
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Healthy Volunteer, Urea Cycle Disorder
Safety and Tolerability of SYNB1020-CP-001
A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics
- Trial name
- SYNB1020CP001 (NCT03179878)
- Testing
- SYNB1020
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Synlogic
Polycystic Kidney Disease
Early PKD Observational Cohort Study
This observational study will collect blood and urine and clinical information from individuals with early-stages of polycystic kidney disease (PKD), their unaffected siblings and normal volunteers to create a biobank, also…
- Trial name
- EPOC (NCT02936791)
- Where
- 3 sites in United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Hemophilia A
Evaluation of the Training Program for Community Pharmacists for Dispensing Emicizumab (HEMLIBRA®) in France
Haemophilia A (HA) is a rare constitutional haemorrhagic disease whose drug management is based on the use of chronic lifelong replacement therapy.
- Trial name
- PASODOBLEDEMI1 (NCT05449197)
- Testing
- HEMOPHAR e-learning program
- Where
- France
- Volunteers
- 363 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Communication Disorder, Healthy
Central Mechanisms in Speech Motor Control Studied With H215O PET
Positron Emission Tomography (PET) is a technique used to investigate the functional activity of the brain. The PET technique allows doctors to study the normal biochemical and metabolic processes of the central nervous system of…
- Conditions
- Communication Disorder, Healthy, Stuttering, Tourette Syndrome
- Trial name
- NCT00001308
- Where
- United States
- Volunteers
- 1,163 people, healthy volunteers welcome
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Alpha and Beta Thalassemia, Sickle Cell Disease
Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants
Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders.
- Conditions
- Alpha and Beta Thalassemia, Sickle Cell Disease, Malaria, Human Physiology
- Trial name
- NCT03937817
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC)
18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors
The goal of this clinical trial is to evaluate the diagnostic value of CAIX protein specific probe 18F-T2 in PET/CT imaging in participants with solid tumors.
- Conditions
- Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC), Colorectal Cancer, Cervical Cancer
- Trial name
- NCT07557225
- Testing
- 18F-T2 PET/CT
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
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