Clinical trials: Genotype
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Asthma
Add-on Salmeterol Versus Montelukast in Arg/Arg-16 Asthmatics
The purpose of this study is to determine whether patients with asthma who carry a genotype associated with adverse outcomes with long-acting beta-2 agonists like salmeterol show greater benefit from the use of an asthma drug…
- Trial name
- NCT00655616
- Testing
- Salmeterol, Montelukast
- Where
- United Kingdom
- Volunteers
- 64 people
- Sponsor
- University of Dundee
Familial Hemiplegic Migraine Type 1 and 2, Healthy Volunteers
Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2
The aim of the present study is to explore functional consequences of migraine gene mutations on their responses to GTN infusion.
- Trial name
- NCT00257985
- Testing
- GTN
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Danish Headache Center
Diabetes Mellitus
Defining the Molecular and Physiological Mechanisms of Pancreatic Islet Cell Dysfunction Which Lead to Type 2 Diabetes
Defects in insulin secretion are central to the pathogenesis of type 2 diabetes (T2D) but the molecular basis and physiological consequences of those defects are poorly understood, impeding efforts to develop novel therapeutic…
- Trial name
- DIVA-Exeter (NCT02505308)
- Testing
- Glucose-Potentiated Arginine-Induced Insulin Secretion
- Where
- 2 sites in United Kingdom
- Volunteers
- 328 people, healthy volunteers welcome
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Slow Language Impairment
Better Understanding Slow Language Impairment
This study was designed to examine the development of children aged 6 to 10 with slow language impairment (SLI). The aim was threefold: (1) to investigate language skills of children with SLI at different levels - formal…
- Trial name
- SLI:COGGEN (NCT03660995)
- Testing
- Evaluation of language skills and procedural learning of children with SLI and their controls. DNA sampling.
- Where
- France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- CHU de Reims
Standard Training, Online Training
Ethical, Legal, and Social Issues Substudy in Relation to the GTEx Project
The Ethical, Legal and Social Issues Substudy in relation to the Genotype Tissue Expression Project (GTEx) aims to describe tissue requesters' approach to discussions about donation to GTEx and to assess the determinants of…
- Trial name
- ELSI (NCT02887339)
- Testing
- Training Website, Control
- Where
- United States
- Volunteers
- 512 people, healthy volunteers welcome
- Sponsor
- Temple University
GERD
A Comparative Study of Proton-pump Inhibitor Tests for Chinese Reflux Patients in Relation to the CYP2C19 Genotypes
Backgrounds \& Aims: Proton-pump inhibitor (PPI) test has been proposed as a valuable tool in the diagnosis of gastroesophageal reflux disease (GERD) in Western populations.
- Trial name
- NCT00681005
- Testing
- rabeprazole, pantoprazole
- Volunteers
- 178 people
- Sponsor
- National Taiwan University Hospital
HIV Infections
A Study of Three Different Anti-HIV Drug Combinations in HIV-Infected Patients
The purpose of this study is to compare the safety and effectiveness of three anti-HIV drug combinations. The three combinations are: (1) efavirenz (DMP 266) plus indinavir; (2) DMP 266 plus zidovudine (ZDV) plus lamivudine…
- Trial name
- NCT00002410
- Testing
- Indinavir sulfate, Lamivudine, Zidovudine
- Where
- 41 sites in United States, Puerto Rico
- Sponsor
- Dupont Merck
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
Cystic Fibrosis
Study to Evaluate Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) Long-term Safety and Efficacy in Subjects Without F508del
This study will evaluate the long-term safety, efficacy and pharmacodynamics of ELX/TEZ/IVA in participants with cystic fibrosis (CF) with at least 1 non-F508del ELX/TEZ/IVA-responsive CF transmembrane conductance regulator…
- Trial name
- NCT05331183
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 81 sites in Austria, Belgium and 13 more
- Volunteers
- 297 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Flat Warts, HIV
Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric Patients
Many human immunodeficiency virus (HIV)-positive children are afflicted with diffuse flat warts that have been recalcitrant to multiple treatments.The aim of this prospective study was to evaluate the efficacy, safety and…
- Trial name
- NCT01289171
- Testing
- Glycolic acid
- Where
- Botswana
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Tonsillectomy, Adenoidectomy
Pharmacogenomics Analysis of Morphine Pharmacokinetics in Pediatric Tonsillectomy and Adenoidectomy
Intravenous (IV) morphine requirement for immediate postoperative pain control depends upon the complex interplay of patient history, wound severity, environment, and genetics.
- Conditions
- Tonsillectomy, Adenoidectomy, Pharmacokinetics
- Trial name
- NCT00836264
- Where
- United States
- Volunteers
- 878 people
- Sponsor
- Children's Hospital of Philadelphia
Healthy
Alcohol Metabolism and Disease Risk in Asians
The primary pathway of alcohol metabolism involves two main enzymes, alcohol and aldehyde dehydrogenase. Several genes that encode these enzymes have variants that alter the rate of alcohol metabolism and increase levels of…
- Trial name
- R21AA28365 (NCT04967599)
- Testing
- Phenotype Feedback Intervention, Genotype Feedback Intervention
- Where
- United States
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Muscular Dystrophy, Duchenne
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in…
- Trial name
- NCT02834650
- Testing
- Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test
- Where
- 3 sites in United States
- Volunteers
- 89 people, healthy volunteers welcome
- Sponsor
- Stanford University
Lowe Syndrome
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males).
- Trial name
- NCT00359515
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Multiresistant Bacterial Pathogens, Virulent Bacterial Pathogens
Development of a Swiss Surveillance Database for Molecular Epidemiology of Hypervirulent and Multi-drug Resistant Pathogens
Hypervirulent and multidrug-resistant infections are associated with significant health care costs, substantial morbidity and mortality.
- Trial name
- NCT04172025
- Testing
- Analysis of Bacterial Genome
- Where
- 5 sites in Switzerland
- Volunteers
- 10,000 people
- Sponsor
- University Hospital, Basel, Switzerland
Vascular Stains
Multicenter Phenotype-Genotype Analysis of Vascular Stains to Optimize Treatment Utilizing Optical Coherence Tomography
The purpose of this research study is to develop a better understanding of vascular stains and to improve the usual laser treatment for vascular stain by using optical coherence tomography (OCT).
- Trial name
- NCT04772911
- Testing
- Optical Coherence Tomography (OCT)
- Where
- 2 sites in United States
- Volunteers
- 73 people
- Sponsor
- University of Wisconsin, Madison
Sickle Cell Disease
Evaluation of Efficacy and Safety of a Single Dose of Exa-cel in Participants With Severe Sickle Cell Disease, βS/ βC Genotype
The purpose of the study is to evaluate the efficacy and safety of CTX001 (exa-cel) in adolescent and adult participants with severe sickle cell disease (SCD), βS/βC genotype (HbSC).
- Trial name
- NCT05951205
- Testing
- Exa-cel
- Sponsor
- Vertex Pharmaceuticals Incorporated
Sickle Cell Disease
Stem Cell Transplantation With Identical Donors for Patients With Sickle Cell Disease
This protocol studied the effect of administration of a myeloablative pretransplant preparative regimen followed by an infusion of donor stem cells in children with severe sickle cell disease.
- Trial name
- NCT00186810
- Testing
- Busulfan, Cyclophosphamide, Horse ATG, Allogeneic stem cell transplant
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- St. Jude Children's Research Hospital
Hereditary Retinal Dystrophies
Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
- Trial name
- GEPHIRD (NCT03662386)
- Testing
- OCT-A, Visual acuity (ETDRS)
- Where
- France
- Volunteers
- 103 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild