Clinical trials: Genetic Association Studies
Post-Acute COVID-19 Syndrome, ME/CFS
Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
The unhide® Project is a non-interventional, longitudinal research study designed to establish a secure data repository of demographic, health, and lifestyle information from individuals with brain inflammation and related…
- Conditions
- Post-Acute COVID-19 Syndrome, ME/CFS, Rheumatic Arthritis, Juvenile Rheumatoid Arthritis (JRA)
- Trial name
- NCT04806620
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Brain Inflammation Collaborative
Duchenne Muscular Dystrophy
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Imlifidase Infusion in Participants With Duchenne Muscular Dystrophy (DMD) Determined to Have Pre-existing Antibodies to Recombinant Adeno-Associated Virus Serotype (rAAVrh74)
This is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing…
- Trial name
- NCT06241950
- Testing
- delandistrogene moxeparvovec, imlifidase
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Sarepta Therapeutics, Inc.
Graft vs Host Disease, Congenital Aniridia
Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
The ARGOS-IO pressure sensor is intended to be implanted in the human eye in combination with Boston Keratoprosthesis (BKPro) surgery and to remain in place indefinitely.
- Conditions
- Graft vs Host Disease, Congenital Aniridia, Chemical Burns, Stevens-Johnson Syndrome
- Trial name
- NCT02945176
- Testing
- ARGOS-IO system
- Where
- 2 sites in Germany
- Volunteers
- 13 people
- Sponsor
- Implandata Ophthalmic Products GmbH
Breast Cancer
Analysis of Data From the Women's Contraceptive and Reproductive Experiences (CARE) Study
This study will continue to analyze data collected by the Women's Contraceptive and Reproductive Experiences (CARE) study. The CARE study was designed to evaluate the association between reproductive factors and risk of breast…
- Trial name
- NCT00341159
- Where
- United States
- Volunteers
- 9,257 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Injuries, Genetic Change
Candidate Gene Association Study With Injury in Elite Male Youth Football Players
Understanding how candidate genes, previously associated with injury susceptibility, influence the incidence of muscle, bone, ligament, and tendon injuries across the development pathway of elite footballers may provide valuable…
- Trial name
- NCT04952662
- Testing
- Genetic variants
- Where
- 2 sites in United Kingdom
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Tobacco Use Disorder
A Brain Imaging Study Into Nicotine Induced Dopamine Release in Cigarette Smokers.
Dopamine (DA) plays a critical role in nicotine (and other) addiction and this drug is known to release DA in brain areas mediating reward and motivational processes.
- Trial name
- NCT00396669
- Testing
- Bupropion
- Where
- Israel
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Neuromuscular Disease, Malignant Hyperthermia
The Prevalence of RYR1-related Disease
The skeletal muscle ryanodine receptor (RYR1) gene encodes an important calcium channel in skeletal muscle, with an important role in muscle contraction. Mutations (i.e.
- Conditions
- Neuromuscular Disease, Malignant Hyperthermia, Congenital Myopathy, Multiminicore Disease
- Trial name
- NCT06791369
- Where
- United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- King's College London
Lactic Acidosis
Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis
OBJECTIVES: I. Compare the safety of sodium dichloroacetate (DCA) vs placebo in children with congenital lactic acidosis. II. Determine the quality of life of these patients. III.
- Trial name
- NCT00004490
- Testing
- sodium dichloroacetate
- Volunteers
- 45 people
- Sponsor
- University of Florida
Congenital Abnormalities, Birth Defects
Clinical and Genetic Studies of VACTERL Association
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them.
- Conditions
- Congenital Abnormalities, Birth Defects, Congenital Defects
- Trial name
- NCT00766571
- Where
- United States
- Volunteers
- 304 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hemophilia
A Proof-of-concept Study to Reduce Treatment Burden in Haemophilia Participants Receiving Factor VIII and Factor IX Infusions
The main aim is to describe how the treatment burden and challenges of participants, relatives, and doctors during regular Factor VIII and Factor IX infusions to treat hemophilia evolve using a virtual-reality (VR) based…
- Trial name
- NCT05437211
- Testing
- Virtual-reality (VR) Based Solution
- Where
- 6 sites in France
- Volunteers
- 24 people
- Sponsor
- Takeda
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
Viral Infection, Primary Immune Deficiency Disorder
Treatment of Refractory BK Infections With Related Donor BK Specific Cytotoxic T-cells (CTLs)
BK cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be safe and effective in decreasing specific viral load in children, adolescents and young adults (CAYA) with refractory BK…
- Trial name
- NCT04197596
- Testing
- BK CTL
- Where
- 7 sites in United States
- Volunteers
- 40 people
- Sponsor
- New York Medical College
Sickle Cell Disease
Low-Dose Ketamine Infusion for Children With Sickle Cell Disease-Related Pain
Acute pain episodes associated with sickle cell disease (SCD) are very difficult to manage effectively. Opioid tolerance and side effects have been major roadblocks in our ability to provide these patients with adequate pain…
- Trial name
- NCT00595530
- Testing
- ketamine
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Connecticut Children's Medical Center
Rheumatoid Arthritis, Diabetic Neuropathy
Basket Study (CT-100-002) to Evaluate the Effects of a DiNaMo™ Component Training
CT-100 is a platform that provides interactive, software based therapeutic components that may be used as part of a multimodal treatment in supplementary or standalone prescription or nonprescription software-based digital…
- Conditions
- Rheumatoid Arthritis, Diabetic Neuropathy, Fibromyalgia, Irritable Bowel Syndrome
- Trial name
- NCT05573685
- Testing
- DiNaMo Study App
- Where
- United States
- Volunteers
- 124 people
- Sponsor
- Click Therapeutics, Inc.
Cystic Fibrosis
Study of Circulating Blood Cell Monocytes as Predictive Biomarker of Bone Cystic Fibrosis Disease. Impact of CFTR Correctors.
The aim of the study is to look for risk factors of developing osteoporosis in patients with cystic fibrosis. Blood cells called monocytes will be obtained from a blood sample.
- Trial name
- MUCO-OS (NCT03492567)
- Testing
- Blood test
- Where
- France
- Volunteers
- 25 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fanconi's Anemia, Myelodysplastic Syndromes
Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia
OBJECTIVES: I. Determine the effectiveness of moderate dose cyclophosphamide and radiotherapy in terms of improving survival and reducing the morbidity following allogeneic bone marrow transplantation in patients with…
- Conditions
- Fanconi's Anemia, Myelodysplastic Syndromes, Leukemia, Nonlymphocytic, Acute, Leukemia, Lymphocytic, Acute
- Trial name
- NCT00005892
- Testing
- cyclophosphamide, Allogeneic Bone Marrow Transplantation
- Where
- United States
- Sponsor
- Fairview University Medical Center
Hematologic Malignancies
A Single-arm Safety Study of Transplantation Using Umbilical Cord Blood and Human Placental-derived Stem Cells From Partially Matched Related Donors in Persons With Certain Malignant Blood Diseases and Non-malignant Disorders
To investigate the safety of partially matched related human placental-derived stem cells (HPDSC) administered in conjunction with umbilical cord blood (UCB) stem cells from the same donor in subjects with various malignant or…
- Trial name
- HPDSC (NCT00596999)
- Testing
- UCB and HPDSC
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Celgene Corporation
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between…
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome
- Trial name
- FINDFSS (NCT05419245)
- Testing
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Dufresne, Craig, MD, PC
Type 1 Diabetes
Genome-wide Association Study of Different Types of Diabetes and Construction of Genetic Risk Score
To enhance the genetic profile of T1D patients in China and construct a Chinese-specific GRS and evaluated its ability to differentiate between T1D and controls, as well as between T1D and T2D.
- Trial name
- NCT06791330
- Volunteers
- 7,000 people
- Sponsor
- Second Xiangya Hospital of Central South University
Down Syndrome
LIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD)
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a…
- Trial name
- NCT06860373
- Testing
- [18F]MK-6240
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- LuMind IDSC Foundation