Clinical trials: Genetic Association Studies
Retinal Disease, AMD
Cell Collection to Study Eye Diseases
Background: Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye.
- Conditions
- Retinal Disease, AMD, Retinal Degeneration, Retinitis Pigmentosa
- Trial name
- NCT01432847
- Where
- United States
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Exocrine Pancreatic Insufficiency, Cystic Fibrosis
RESULT: Reliable, Emergent Solution Using Liprotamase Treatment
Liprotamase powder is a non-porcine, soluble and stable mixture of biotechnology-derived lipase, protease, and amylase digestive enzymes.
- Trial name
- NCT03051490
- Testing
- Liprotamase, porcine PERT
- Where
- 50 sites in United States, Hungary and 5 more
- Volunteers
- 140 people
- Sponsor
- Anthera Pharmaceuticals
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 121 sites in United States, Argentina and 31 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
Glucose Control
Genetic Variation in CLTCL1 and Whole-body Glucose Control
Maintaining stable blood glucose concentrations after eating has important implications for health. Individuals who are better able to maintain stable blood glucose concentrations after consuming carbohydrate have a lower risk of…
- Trial name
- NCT03998111
- Testing
- Oral glucose tolerance test
- Where
- United Kingdom
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Javier Gonzalez
Age-Related Macular Degeneration (ARMD)
PIIR Study: Comparison of Genetic Tests for Age-Related Macular Degeneration
This study is being conducted to compare two different genetic tests developed to determine an individuals risk of developing serious vision threatening complications from age-related macular degeneration (ARMD).
- Trial name
- PIIR (NCT02779686)
- Where
- 3 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Age-related Macular Degeneration, Age-related Maculopathy
GARM II: A Study on the Genetics of Age-related Maculopathy
The original study (GARM I) has been conducted for more than 18 years at the University of Pittsburgh Medical Center (UPMC). GARM II is a nationwide research study about age-related macular degeneration in the next generation of…
- Trial name
- NCT01115387
- Testing
- Observational-1, Observational-2
- Where
- 2 sites in United States
- Volunteers
- 603 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Osteoporosis, Thalassemia Major
Diagnostic Pilot Study of Dual Energy Absorptiometry in the Detection of Osteopenia or Osteoporosis in Patients With Thalassemia Major
OBJECTIVES: I. Determine the frequency and severity of osteopenia and osteoporosis in patients with thalassemia major who undergo dual energy x-ray absorptiometry, and correlate these findings with other relevant endocrinologic…
- Conditions
- Osteoporosis, Thalassemia Major, Osteopenia
- Trial name
- NCT00006138
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Autoimmune Diseases, Lupus Erythematosus, Systemic
Comparative Autoantibody and Immunologic Cell Marker Study
The purpose of this study is to compare immune phenotype, function, and specificity of B lymphocytes from different developmental stages in autoimmune patients to B cells from infectious disease patients and healthy controls.
- Conditions
- Autoimmune Diseases, Lupus Erythematosus, Systemic, Communicable Diseases
- Trial name
- NCT02422875
- Where
- 3 sites in United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- Emory University
OCD
The Imaging Genetic Study of the Core Family of Obsessive-compulsive Disorder (OCD) Patient
To investigate the structural/functional abnormalities and the possible genetic endophenotypes of Obsessive-compulsive disorder (OCD) patients and their core families.
- Trial name
- NCT01298622
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Kunming Medical University
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD).
- Trial name
- NCT07778641
- Testing
- Whole exome sequencing.
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Encephalopathy, HIV Infections
A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease.
To determine the safety and CSF penetration of combined ganciclovir and foscarnet treatment for presumed cytomegalovirus encephalitis or radiculomyelopathy.
- Conditions
- Encephalopathy, HIV Infections, Radiculitis
- Trial name
- NCT00000856
- Testing
- Foscarnet sodium, Ganciclovir
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS Who Have Not Had Success With Ganciclovir
To evaluate the safety and efficacy of foscarnet induction treatment of cytomegalovirus (CMV) retinitis in AIDS patients who have previously suffered severe dose-limiting ganciclovir-related myelosuppression, who are ineligible…
- Trial name
- NCT00002301
- Testing
- Foscarnet sodium
- Where
- United States
- Sponsor
- Astra USA
Gastrointestinal Stromal Tumors, Germline Mutation
A Retrospective Pharmacokinetics and Pharmacogenomics Research of Imatinib in Gastrointestinal Stromal Tumor Treatment
For patients of GIST (Gastrointestinal Stromal Tumor), Imatinib has been widely used in GIST with KIT or PDGFRA sensitive mutations.
- Conditions
- Gastrointestinal Stromal Tumors, Germline Mutation, Somatic Mutation, Plasma Concentration
- Trial name
- NCT03092128
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Xueding Wang
African American Genetics
Suitability of Some Data Quality Controls Thresholds for Genetic Association Studies of Admixed Population
Background: In genetic studies, the quality of DNA samples is tested first. Samples that are low-quality are not used. Some studies involve minority ethnic groups. And example is admixed African American.
- Trial name
- NCT02770001
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurofibromatosis 1, Plexiform Neurofibroma
FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
A study to evaluate the efficacy of FCN-159 in adult patients with symptomatic, inoperable neurofibromatosis type 1-related plexiform neurofibromas.
- Conditions
- Neurofibromatosis 1, Plexiform Neurofibroma, NF1
- Trial name
- NCT05913037
- Testing
- Test group (Group A): FCN-159 8 mg, orally, once daily;
- Where
- 15 sites in China
- Volunteers
- 167 people
- Sponsor
- Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.
Diabetes Mellitus
Association Study of Genetic Polymorphisms of Candidate Genes With Thiazolidinedione-Related Peripheral Edema and Drug Responsiveness
According to the above evidence, though the exact mechanism contributing to the Thiazolidinediones (TZDs) associated peripheral edema is still unclear, the investigators hypothesize that the genetic variations of certain…
- Trial name
- NCT00975169
- Where
- Taiwan
- Volunteers
- 400 people
- Sponsor
- National Taiwan University Hospital
Lymphoma, Non-Hodgkin, HIV Infections
Gene Therapy in HIV-Positive Patients With Non-Hodgkin's Lymphoma
The purpose of this study is to see if it is safe and effective to use gene therapy to treat non-Hodgkin's lymphoma (NHL) in HIV-positive patients. Stem cell transplantation is a procedure used to treat NHL.
- Trial name
- NCT00002221
- Testing
- Peripheral blood stem cells
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ribozyome
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
- Trial name
- NCT03307304
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Transthyretin Cardiomyopathy (TTR-CM), Transthyretin (TTR) Amyloid Cardiomyopathy
PL_GNT01_ISR_Grant 53234273
We carry out a prospective non-interventional, longitudinal, observational multicentre registry designed to improve our understanding of the epidemiology of TTR amyloidosis in our country.
- Conditions
- Transthyretin Cardiomyopathy (TTR-CM), Transthyretin (TTR) Amyloid Cardiomyopathy, Transthyretin Amyloidosis
- Trial name
- NCT06714019
- Where
- Poland
- Volunteers
- 100 people
- Sponsor
- National Institute of Cardiology, Warsaw, Poland