Clinical trials: Genetic Association Studies
Rett Syndrome
Functional Abilities in Rett Syndrome
The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
- Trial name
- NCT00630422
- Where
- Brazil
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Faculdades Metropolitanas Unidas
Alpha 1-Antitrypsin Deficiency, Emphysema
A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo.
The purpose of this study is to investigate the effect of alvelestat (an oral neutrophil elastase inhibitor) on blood and sputum biomarkers in patients with PiZZ, null or rare variant phenotype/genotype alpha-1 anti-trypsin…
- Conditions
- Alpha 1-Antitrypsin Deficiency, Emphysema, COPD
- Trial name
- ASTRAEUS (NCT03636347)
- Testing
- Alvelestat oral tablet - dose 1, Alvelestat oral tablet - dose 2
- Where
- 26 sites in United States, Belgium and 6 more
- Volunteers
- 99 people
- Sponsor
- Mereo BioPharma
PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder
Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
Background: PIK3CA-related overgrowth spectrum (PROS) is caused by changes in the PIK3CA gene. This gene makes a protein that communicates with other proteins in the body to cause cells to grow.
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics
- Trial name
- NCT02428296
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Sickle Cell Disease, Stem Cell Transplant Complications
Nonmyeloablative Stem Cell Transplant in Children With Sickle Cell Disease and a Major ABO-Incompatible Matched Sibling Donor
The aim of this study to evaluate the safety and efficacy of a nonmyeloablative conditioning regimen for allogeneic hematopoietic stem cell transplantation (HSCT) in pediatric patients with sickle cell disease (SCD) who have a…
- Conditions
- Sickle Cell Disease, Stem Cell Transplant Complications, Red Blood Cell Disorder, Pure Red Cell Aplasia
- Trial name
- Sickle-AID (NCT03214354)
- Testing
- Alemtuzumab, Total Body Irradiation, Sirolimus
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- University of Calgary
Behcet's Syndrome, Retinal Disease
HAT in Eye Complications of Behcet's Disease
This study will evaluate the safety and effectiveness of Zenapax in controlling recurrent eye inflammations associated with Behcet's disease. Behcet's disease is usually treated with corticosteroids to suppress inflammation.
- Conditions
- Behcet's Syndrome, Retinal Disease, Uveitis
- Trial name
- NCT00001865
- Testing
- Daclizumab
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Eye Institute (NEI)
Epstein-Barr Virus Infections, Primary Immune Deficiency Disorder
EBV-specific Cytotoxic T-lymphocytes (CTLs) for Refractory EBV Infection
Related donor Epstein-Barr Virus (EBV) specific cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be administered in children, adolescents and young adults with refractory EBV…
- Trial name
- NCT03266653
- Testing
- cytotoxic t-lymphocytes
- Where
- 8 sites in United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Cystic Fibrosis
Identification of Dysglycemia With Continuous Glucose Monitoring to Assess Clinical Evolution in Cystic Fibrosis
Cystic fibrosis (CF)-related diabetes (CFRD) is the most important emerging complication after pulmonary complications. This specific form of diabetes is associated with an increased morbidity and mortality.
- Trial name
- ProspeC-F (NCT05099939)
- Where
- 4 sites in Canada, France
- Volunteers
- 121 people
- Sponsor
- Institut de Recherches Cliniques de Montreal
Neurofibromatosis 1
Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas
Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery.
- Trial name
- NCT04750928
- Testing
- Abemaciclib
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- National Cancer Institute (NCI)
Hereditary Spastic Paraplegia, SPG47
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female…
- Conditions
- Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51
- Trial name
- HSP (NCT04712812)
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Atrial Fibrillation, Thrombosis
Association of Genetic Polymorphisms With Atrial Fibrosis and Thrombogenic Substrate in Patients With Non-valvular Atrial Fibrillation
Atrial fibrillation (AF) is the most frequently encountered cardiac arrhythmia. Emerging data suggests that common genetic variants are associated with the development of AF.
- Conditions
- Atrial Fibrillation, Thrombosis, Stroke, Genetic Predisposition
- Trial name
- ANATOLI-AF (NCT03560219)
- Testing
- Biomarkers, Cardiac Magnetic Resonance Imaging, Echocardiography, Flow Mediated Dilatation, Genetic Analysis
- Volunteers
- 225 people
- Sponsor
- Memorial Ankara Hospital
Non-ischemic Cardiomyopathy, Cardiomyopathies
Cardiovascular Multimodality Imaging Study
Determining the etiology of cardiomyopathy is of high clinical importance for optimal treatment strategy and prediction of prognosis.
- Conditions
- Non-ischemic Cardiomyopathy, Cardiomyopathies, Hypertrophic Cardiomyopathy, Right Ventricular Arrhythmogenic Cardiomyopathy
- Trial name
- NCT06610019
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Montefiore Medical Center
Smoking Cessation
Impact of a Gene Test for Susceptibility to Lung Cancer in Smokers
Professor RP Young (Associate Professor of Medicine and Molecular Medicine, School of Biological Sciences, University of Auckland) and his team have developed a reliable genetic test "Respiragene" based on 20 single nucleotide…
- Trial name
- NCT01176383
- Testing
- Respiragene test and risk score
- Where
- United Kingdom
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Sussex NHS Research Consortium
Parkinson's Disease
Web-based Genetic Research on Parkinson's Disease
The purpose of this study is to examine how genes and environment affect risk for Parkinson's disease.
- Trial name
- NCT01351467
- Where
- United States
- Volunteers
- 13,576 people
- Sponsor
- 23andMe, Inc.
Transthyretin (TTR) Amyloid Cardiomyopathy
Determining the Association of TTR Stabilizing Therapy With Circulating TTR Amyloid Aggregates Over Time in Patients With ATTR-CM: Longitudinal Biomarker Study
The objective of this study is to determine the association of clinically prescribed, on-label, TTR stabilizing therapy (e.g. tafamidis or acoramidis) with levels of circulating transthyretin amyloid aggregates (TAAs, a surrogate…
- Trial name
- NCT07196839
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Texas Southwestern Medical Center
Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications
The purpose of this study is to establish the HNPCC related information in Taiwan, and to characterize relevant susceptibility genes related to colorectal cancer to provide better disease control for the high-risk people.
- Trial name
- NCT00262171
- Where
- Taiwan
- Volunteers
- 1,014 people
- Sponsor
- National Health Research Institutes, Taiwan
Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency
Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD)
This is a multicenter, parallel-group, double-blind, randomized phase 4 study designed to identify the optimal dose of CE1226 (2 active doses) to slow disease progression as assessed by reduced rates of annual lung density…
- Conditions
- Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency, Emphysema
- Trial name
- NCT07326592
- Testing
- CE1226
- Where
- 2 sites in Denmark
- Volunteers
- 270 people
- Sponsor
- CSL Behring
Usage of Prescription Opioids
Determining Genetic Biomarkers Predictive of the Development of Prescription Opioid Addiction
This is a clinical study on patients who have been prescribed opioids (narcotic pain relievers) for the treatment of pain, to determine what genetic factors influence outcome of treatment.
- Trial name
- NCT01562353
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Analgesic Solutions
Cytomegalovirus Retinitis, HIV Infections
A Study of the Safety and Tolerance of Long-Term Therapy With Intravenous Cytovene (Ganciclovir Sodium) for Cytomegalovirus Retinitis in Persons With AIDS
To evaluate the safety and tolerance of long-term ganciclovir (DHPG) therapy for newly diagnosed macular threatening Cytomegalovirus (CMV) retinitis in AIDS patients.
- Trial name
- NCT00002034
- Testing
- Zidovudine, Ganciclovir
- Where
- 9 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- Hoffmann-La Roche
Alcohol Dependence
Cerebral Hemodynamics With rTMS in Alcohol Dependence
The present study measures the cerebral hemodynamic indices of alcohol dependent patients and observe the relative changes in these parameters with rTMS application.
- Trial name
- NCT02446067
- Testing
- Repetitive Transcranial Magnetic Stimulation (rTMS)
- Where
- India
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Central Institute of Psychiatry, Ranchi, India
Cystic Fibrosis
CHaractErizing CFTR Modulated Changes in Sweat Chloride and Their Association With Clinical Outcomes
This is a multicenter, cross-sectional, cohort study which will collect contemporary sweat chloride (SC) values from approximately 5000 Cystic Fibrosis (CF) patients prescribed and currently receiving commercially approved Cystic…
- Trial name
- CHEC-SC (NCT03350828)
- Where
- 52 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- Nicole Hamblett