Clinical trials: Genetic Association Studies
Vascular Anomaly, Osler Rendu Disease
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
There are no prospective studies of pregnancies for the diseases studied here in (Heredity Hemorrhagic Telangiectasia, Marfan syndrome or related, primary lower limb lymphedema, superficial arteriovenous malformations, and…
- Conditions
- Vascular Anomaly, Osler Rendu Disease, Marfan Syndrome or Related, Lymphedema Primary
- Trial name
- COGRare5 (NCT04194619)
- Testing
- Questionnaire
- Where
- 37 sites in France
- Volunteers
- 400 people
- Sponsor
- Hospices Civils de Lyon
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Obesity and Obesity-related Medical Conditions, Cardiovascular Risk
Cardiometabolic Risk of Obese Subjects: Cross-sectional Study
experimental study with analysis on tissues. This study aims to study cardiometabolic risk from a genetic, clinical, instrumental and laboratory point of view in a population of subjects with obesity.
- Conditions
- Obesity and Obesity-related Medical Conditions, Cardiovascular Risk, Genetics
- Trial name
- MiRNome (NCT06714058)
- Where
- 2 sites in Italy
- Volunteers
- 240 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Stigma, Activity Space
Health Outcomes by Neighborhood - Baltimore
Background: Researchers have been studying patterns of mood and drug use in specific neighborhoods. This study will look at environmental factors that may affect drug use, addiction, and treatment seeking in Baltimore…
- Conditions
- Stigma, Activity Space, Social Networks, HIV Status
- Trial name
- NCT01571752
- Where
- United States
- Volunteers
- 1,651 people, healthy volunteers welcome
- Sponsor
- National Institute on Drug Abuse (NIDA)
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Adenovirus, Primary Immune Deficiency Disorder
Adenovirus-specific Cytotoxic T-lymphocytes for Refractory Adenovirus Infection
Related donor Adenovirus (ADV) specific cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be administered intravenously in in children, adolescents and young adults with…
- Trial name
- NCT03266627
- Testing
- cytotoxic t-lymphocytes
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Achondroplasia, Hypochondroplasia
Prospective Longitudinal Multicentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia
The study aims to identify which Syde®-derived digital outcomes are reliable in FGFR3-related Skeletal Dysplasia. This requires to set-up a natural history study to measure limb movements in patients with ACH or HCH.
- Trial name
- SKY-MOT3 (NCT07388966)
- Where
- 4 sites in Belgium, France and 1 more
- Volunteers
- 140 people
- Sponsor
- SYSNAV
Graves' Ophthalmopathy, Hypercholesterolemia
Graves' Orbitopathy and Hypercholesterolemia
The investigators have recently observed retrospectively that the occurrence of Graves' Orbitopathy in patients with Graves' disease is less frequent in patients with normal cholesterol levels, in line with another recent…
- Trial name
- GOCol (NCT02721992)
- Testing
- No intervention
- Where
- Italy
- Volunteers
- 250 people
- Sponsor
- University of Pisa
Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation
A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment
For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and…
- Conditions
- Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation, EGFR-TKI Sensitizing Mutation, Germline Mutations
- Trial name
- NCT01994057
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Sun Yat-sen University
Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis
HLA-B*58:01-Guided Therapy for Gout: Effectiveness, Safety, and Cost-Effectiveness
Severe cutaneous adverse reactions (SCARs), such as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) and drug reaction with eosinophilia and systemic symptoms (DRESS), are rare but life-threatening complications that…
- Conditions
- Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis, Gout and Hyperuricemia
- Trial name
- HLA-SCREEN (NCT07369622)
- Testing
- HLA-B*58:01 Genotyping, Allopurinol Tablet, Febuxostat
- Volunteers
- 228 people, healthy volunteers welcome
- Sponsor
- Haiphong University of Medicine and Pharmacy
Sickle Cell Disease, Acute Chest Syndrome
Defibrotide in Sickle Cell Disease-Related Acute Chest Syndrome
This study evaluates the safety of defibrotide in subjects with sickle cell disease (SCD)-associated acute chest syndrome (ACS).
- Trial name
- NCT03805581
- Testing
- Defibrotide
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
LMNA-Related Dilated Cardiomyopathy
A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy
This is a rollover study designed to investigate the safety and effectiveness of investigational study drug ARRY-371797 in patients who previously received ARRY-371797 in a study for patients with LMNA-related dilated…
- Trial name
- NCT02351856
- Testing
- ARRY-371797, p38 inhibitor, oral
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- Pfizer
LMNA-Related Dilated Cardiomyopathy
A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy
This is a Phase 2 pilot study, involving a 48-week treatment period, designed to test the effectiveness of investigational study drug ARRY-371797 in treating patients with symptomatic genetic dilated cardiomyopathy due to a lamin…
- Trial name
- NCT02057341
- Testing
- ARRY-371797, p38 inhibitor; oral
- Where
- 6 sites in United States
- Volunteers
- 12 people
- Sponsor
- Pfizer
Hereditary Transthyretin-mediated (ATTRv) Amyloidosis, Polyneuropathy
A Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of ATTRv Amyloidosis With a V122I or T60A Mutation
To evaluate the effectiveness of patisiran in patients with ATTRv amyloidosis with polyneuropathy who have a V122I or T60A mutation.
- Trial name
- NCT04201418
- Testing
- Patisiran
- Where
- 27 sites in United States
- Volunteers
- 67 people
- Sponsor
- Alnylam Pharmaceuticals
Retinitis Pigmentosa, Choroideremia
Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision.
- Conditions
- Retinitis Pigmentosa, Choroideremia, Stargardt Macular Dystrophy, Stargardt Disease
- Trial name
- NCT06375239
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- Ray Therapeutics, Inc.
Type 2 Diabetes Mellitus
Type 2 Diabetes Mellitus Collaborative Genetic Study on Non-aboriginal Taiwanese
This study is a cooperative project and aims to identify genetic components associated with type 2 diabetes mellitus (T2DM), which is significant for the population of non-aboriginal Taiwanese.
- Trial name
- T2D2 (NCT01250639)
- Where
- Taiwan
- Volunteers
- 5,000 people
- Sponsor
- China Medical University Hospital
Breast Neoplasms, Survival Analysis
Study of Cytochrome P450 Polymorphisms (CYP2D6, CYP3A4/5 and CYP2C19) in Breast Cancer Patients
The genetic polymorphisms of the cytochrome P450 may influence on the metabolism of tamoxifen. The investigators want to evaluate the frequency or incidence of the genetic polymorphisms of cytochrome P450 subfamilies(CYP2D6…
- Conditions
- Breast Neoplasms, Survival Analysis, Antineoplastic Agents, Therapeutic Uses
- Trial name
- NCT01169792
- Testing
- tamoxifen
- Where
- 2 sites in South Korea
- Sponsor
- Yonsei University
Cytomegalovirus Infections, HIV Infections
A Study of AZT Plus Ganciclovir in Patients With AIDS and Cytomegalovirus (CMV) Infection
To evaluate the clinical and laboratory toxicity of ganciclovir (GCV) and zidovudine (AZT) when given in combination. Because recent information has shown AZT to be useful in treating AIDS, it is assumed that most patients with…
- Trial name
- NCT00000995
- Testing
- Zidovudine, Ganciclovir
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Acute Lung Injury
Inflammatory Genetic Polymorphism and Acute Lung Injury After Cardiac Surgery
Acute lung injury is a common complication of cardiac surgery with cardiopulmonary bypass, and it is significantly related to prolonged postoperative recovery, hospital stays and medical cost.
- Trial name
- NCT00826072
- Where
- China
- Volunteers
- 107 people
- Sponsor
- Changhai Hospital
Quality of Life, Down Syndrome
OHRQoL and Parental Perception in a Group of Children and Adolescents With Down Syndrome: A Cross
The aim of the study is to evaluate Oral Health related quality of life of children and adolescents with down syndrome and Parental Perception, knowledge and Attitude on oral health conditions of children and adolescents with…
- Conditions
- Quality of Life, Down Syndrome, Oral Health
- Trial name
- NCT04394221
- Where
- Egypt
- Volunteers
- 194 people
- Sponsor
- Cairo University