Clinical trials: Genetic Association Studies
Lysosomal Storage Disease, Cholesterol Metabolism
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol.
- Trial name
- NCT00046202
- Where
- United States
- Volunteers
- 344 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Stevens-Johnson Syndrome, Toxic Epidermal Necrolyses
NATIENS: Optimal Management and Mechanisms of SJS/TEN
The North American Therapeutics in Epidermal Necrolysis Syndrome (NATIENS) study is a multicenter double-blind randomized controlled assessment of two arms - one of systemic immunomodulatory therapy (etanercept) and one of…
- Trial name
- NATIENS (NCT02987257)
- Testing
- Harmonized supportive care, Etanercept 50 mg sc day 1 and day 4
- Where
- 14 sites in United States
- Volunteers
- 2 people
- Sponsor
- Vanderbilt University Medical Center
Phenylketonurias
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU
The goal of the proposed study is to elucidate neurologic and neuropsychological improvements associated with Palynziq-related reduction in plasma Phe levels in individuals with PKU.
- Trial name
- NCT05356377
- Testing
- Pegvaliase-Pqpz
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- University of Missouri-Columbia
Marfan Syndrome, Marfan Syndrome Cardiovascular Manifestations
Living With Marfans and Your Aorta: Surgical Outcomes Study
Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening.
- Trial name
- LIMA II (NCT04776681)
- Where
- United Kingdom
- Volunteers
- 28 people
- Sponsor
- Barts & The London NHS Trust
Panic Disorder
Genetic Causes of Panic Disorder
This study will try to identify genes that increase the risk of developing panic disorder-an anxiety disorder characterized by recurrent unexpected panic attacks-and that contribute to the abnormalities associated with it.
- Trial name
- NCT00083265
- Where
- United States
- Volunteers
- 117 people
- Sponsor
- National Institute of Mental Health (NIMH)
Bipolar Disorder
A Genetic Family Cohort Study of Bipolar Disorder in Chinese Han Population
This study intends to find out the pathogenic genes of bipolar disorder by collecting the two-phase family of Chinese Han population with the large sample using a family cohort study design, combined with the new generation of…
- Trial name
- NCT04024553
- Where
- China
- Volunteers
- 2,520 people, healthy volunteers welcome
- Sponsor
- Shanghai Mental Health Center
Down Syndrome
A Study of ACI-24 in Adults With Down Syndrome
This study is a prospective multicenter, placebo-controlled, double-blind, randomized study to assess the effect of one dose ACI-24 versus placebo over a 74-week treatment period and 26-week safety follow-up period.
- Trial name
- NCT04373616
- Testing
- ACI-24
- Sponsor
- AC Immune SA
Healthy, Immune System and Related Disorders
The Healthy Human Global Project - Hong Kong (HHGP-Hong Kong)
The Healthy Human Global Project-Hong Kong aims to elucidate the heritable and non-heritable factors that drive immunological variance within a healthy population in Hong Kong.
- Trial name
- NCT05174624
- Testing
- No intervention
- Where
- China
- Volunteers
- 1,026 people, healthy volunteers welcome
- Sponsor
- Centre for Immunology & Infection
Blood Coagulation Disorders
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
Congenital bleeding disorders characterized by abnormal platelet granules include Gray Platelet syndrome (GPS; defective alpha-granules), Hermansky-Pudlak syndrome (HPS; defective delta-granules), and combined alpha delta-storage…
- Trial name
- NCT00086476
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Anesthesia, Surgical Procedure, Operative
The Influence of NPPA/NPPB Haplotype on Natriuretic Peptide Plasma Levels
Crosssectional study to analyse the genetic influence on levels of cardiac biomarkers (BNP, NT-proBNP).
- Trial name
- NCT04327258
- Where
- Switzerland
- Volunteers
- 437 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Cystic Fibrosis (CF), Cystic Fibrosis-related Diabetes
A CFit Study - Baseline
A great medical success is the increase in the median survival age associated with cystic fibrosis (CF). However, this success has led to a new era of research with the aim to maximise the quality of life (QoL) of the aging CF…
- Trial name
- NCT03234387
- Testing
- No intervention - only assessments.
- Where
- United Kingdom
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Portsmouth
Cardiac Event, Klinefelter Syndrome
TyG Index Levels in Klinefelter Syndrome
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also…
- Conditions
- Cardiac Event, Klinefelter Syndrome, Endothelial Dysfunction
- Trial name
- NCT05014997
- Testing
- no intervention
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gulhane School of Medicine
Cystic Fibrosis, Exocrine Pancreatic Insufficiency
Liprotamase Efficacy Trial in Patients With Cystic Fibrosis-Related Exocrine Pancreatic Insufficiency
This is a clinical trial which will evaluate the efficacy of Liprotamase treatment in cystic fibrosis (CF) patients with exocrine pancreatic insufficiency (PI).
- Trial name
- DIGEST (NCT00449878)
- Testing
- Liprotamase
- Where
- 29 sites in United States
- Volunteers
- 163 people
- Sponsor
- Anthera Pharmaceuticals
Sickle Cell Anemia
Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease
OBJECTIVES: I. Assess the efficacy of poloxamer 188 in reducing the duration of painful vaso-occlusive crisis in patients with sickle cell disease. II.
- Trial name
- NCT00004408
- Testing
- poloxamer 188
- Volunteers
- 300 people
- Sponsor
- Mast Therapeutics, Inc.
Diabetic Retinopathy
SLMAP and EPO Genetic Polymorphism in Diabetic Retinopathy
A case-control study to assess the association between the risk of diabetic retinopathy in Egyptians and genetic polymorphism of both EPO and SLMAP genes.
- Trial name
- NCT05344690
- Testing
- SLMAP and EPO genetic polymorphism
- Where
- Egypt
- Volunteers
- 180 people
- Sponsor
- Ain Shams University
Chronic Granulomatous Disease
Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease (CGD) With an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined With Cytokine (IL-6, +/- IFN-gamma) Antagonists
Background: Chronic granulomatous disease (CGD) affects the immune system. People with CGD are more likely to get infections. Drugs can help control infections, but these treatments can cause side effects including kidney failure…
- Trial name
- NCT05463133
- Testing
- Sirolimus, Cyclophosphamide, Alemtuzumab
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cystic Fibrosis, Steatorrhea
An Effectiveness, Safety, and Palatability Study of Pancrelipase Microtablets in Infants and Toddlers With Cystic Fibrosis and Fat Malabsorption
The purpose of this study is to evaluate the effectiveness and safety of PANCREASE MT (pancrelipase microtablets) to improve steatorrhea (excessive excretion of fat in feces) in infants and toddlers with cystic fibrosis who have…
- Trial name
- NCT00217204
- Testing
- Pancrelipase microtablets
- Volunteers
- 18 people
- Sponsor
- McNeil Consumer & Specialty Pharmaceuticals, a Division of McNeil-PPC, Inc.
Attempt Suicide
Genetic Variants Associated With Adolescent Suicide Attempts
Suicidal behaviors is known to aggregate in families. The purpose of this study is to evaluate association between common polymorphisms in genes important for neurobiological pathways linked to suicidal behaviors and suicide…
- Trial name
- VGTSA (NCT02001649)
- Testing
- SNP Genotyping
- Where
- France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Neoplasms, Cystic Fibrosis
PREMO Study: to Investigate Port REMoval Outcomes
A Totally Implantable Venous Access Device (TIVAD) that is no longer in use for intravenous therapy, should be flushed at established intervals to promote and maintain patency.
- Trial name
- PREMO (NCT03948958)
- Testing
- Evaluation of the catheter function, Catheter tip location, thrombus, sleeve and device damage visualization, Catheter-related colonization
- Where
- Belgium
- Volunteers
- 100 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Cytomegalovirus Retinitis, HIV Infections
Studies of the Ocular Complications of AIDS (SOCA) CMV Retinitis Trial: Foscarnet-Ganciclovir Component
To evaluate the relative effectiveness and safety of foscarnet versus ganciclovir for the treatment of cytomegalovirus (CMV) retinitis in people with AIDS; to evaluate the relative effect on survival of the use of these two…
- Trial name
- NCT00000665
- Testing
- Foscarnet sodium, Ganciclovir
- Where
- 9 sites in United States
- Volunteers
- 240 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)