Clinical trials: Genetic Association Studies
Small Cell Lung Cancer
Pharmacogenomics ANDA SNP Clinical Study - Etoposide and Single Nucleotide Polymorphisms
Explore the relationship between drug target topoisomerase II gene single nucleotide polymorphisms and Etoposide (VP-16) therapeutic-effects in patients with small cell lung cancer, based on Oxford precisely sequencing drug…
- Trial name
- Drugs-SNPs (NCT01064466)
- Testing
- ETOPOSIDE - Usual, ETOPOSIDE - Study
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Han Xu, M.D., Ph.D., FAPCR, Medical Director,, IRB Chair
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Fuchs Endothelial Corneal Dystrophy
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France.
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered.
- Trial name
- F3S (NCT03974230)
- Testing
- Collection of datas, blood sample, slit lamp examination
- Where
- France
- Volunteers
- 208 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Usher Syndrome, Type 2A, Retinitis Pigmentosa
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness.
- Conditions
- Usher Syndrome, Type 2A, Retinitis Pigmentosa, USH2A
- Trial name
- CRUSH (NCT04820244)
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 36 people
- Sponsor
- Radboud University Medical Center
Parent-Child Relations
Effects of Infant Massage on Acceptance, Commitment and Conscience of Influence of Parents With Down Syndrome Babies
This study aims to analyze whether the course of infant massage serves as a tool to improve acceptance, commitment and awareness of influence of parents of babies with Down syndrome.
- Trial name
- NCT03126734
- Testing
- Infant Massage course
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Seville
Postoperative Pain, Analgesia
Genetic Variants and Postoperative Pain
Prospective observational study to analyse patients' pain related outcome after surgery and ist association to genetic variants and non-genetic variables.
- Conditions
- Postoperative Pain, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT03489499
- Where
- Switzerland
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
Rheumatoid Arthritis, Leukocytes, Mononuclear
Genetics and Mechanisms of Rheumatoid Arthritis
The study is aimed at revealing genetic background in rheumatoid arthritis (RA). For that purpose samples of DNA will be collected from 500 RA patients and similar number of controls from whole Slovakia.
- Conditions
- Rheumatoid Arthritis, Leukocytes, Mononuclear, Genetic Association Studies
- Trial name
- RASGENAS (NCT01788098)
- Where
- Slovakia
- Volunteers
- 790 people, healthy volunteers welcome
- Sponsor
- Slovak Academy of Sciences
Stargardt Disease, Stargardt Macular Dystrophy
A Study About the Safety of a Single ASP2020 Eye Injection and if it Helps People With Vision Loss From Stargardt-type Eye Conditions
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye.
- Conditions
- Stargardt Disease, Stargardt Macular Dystrophy, Stargardt-like Macular Dystrophy
- Trial name
- DEVOTE (NCT07734064)
- Testing
- ASP2020
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Astellas Institute for Regenerative Medicine
Cystic Fibrosis, Constipation
Assessing Tenapanor as a Treatment of CF-related Constipation.
Tenapanor is the newest FDA-approved drug for IBS with constipation (IBS-C). This study seeks to understand tenapanor as a treatment for cystic fibrosis-related constipation (CFrC) in CF patients.
- Trial name
- NCT06810167
- Testing
- Tenapanor
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Massachusetts General Hospital
Stargardt Disease
Study of ALK-001 on the Progression of Stargardt Disease
This study evaluates the efficacy and safety of investigational study drug ALK-001 in participants 8 to 45 years of age, inclusive, with symptoms and signs of autosomal recessive Stargardt disease (STGD)
- Trial name
- NORTHSTAR (NCT07419334)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 230 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
Genetic Disease, STXBP1 Encephalopathy With Epilepsy
STXBP1 and SYNGAP1 Related Disorders Natural History Study
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials.
- Conditions
- Genetic Disease, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability
- Trial name
- NCT06555965
- Testing
- Non-interventional study
- Where
- 5 sites in United States
- Volunteers
- 600 people
- Sponsor
- Children's Hospital of Philadelphia
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Canadian Medical Assessment of JINARC™ Outcomes Registry
This study is part of the Health Canada approval requirement for JINARC™ (tolvaptan) and is an observational, non-interventional study (NIS) describing the impact of tolvaptan on ADPKD-related burden of illness as measured with a…
- Trial name
- C-MAJOR (NCT02925221)
- Where
- 6 sites in Canada
- Volunteers
- 530 people
- Sponsor
- Otsuka Canada Pharmaceutical Inc.
Fibromuscular Dysplasia
Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia
ARCADIA is a national registry designed to document phenotypic and genetic traits in patients with renal and/or cervical artery fibromuscular dysplasia (FMD).
- Trial name
- ARCADIA (NCT02884141)
- Where
- 17 sites in Belgium, France
- Volunteers
- 499 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Age-Related Macular Degeneration
Investigating Age-Related Macular Degeneration
Age-related macular degeneration (ARMD) affects older Americans and can lead to irreversible blindness. Although the cause if ARMD is unclear, it appears to be a condition that is affected by both genetic and environmental…
- Trial name
- NCT00342251
- Where
- United States
- Volunteers
- 3,000 people
- Sponsor
- National Eye Institute (NEI)
Prader-Willi Syndrome
Phase 2 Trial to Evaluate Safety and Efficacy of Setmelanotide (RM-493) in Obese Participants With Prader-Willi Syndrome
The purpose of this study was to evaluate the effects of a once daily subcutaneous injectable formulation of setmelanotide in obese participants with Prader-Willi syndrome on tolerability, weight loss, and hyperphagia-related…
- Trial name
- NCT02311673
- Testing
- Setmelanotide
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Sickle Cell Disease
A Stratified Sickle Event Randomized Trial (ASSERT)
The purpose of this study is to compare the effects of ICA-17043 to placebo with or without hydroxyurea (an oral drug used for treatment of sickle cell disease) in patients with sickle cell disease who have had 2 or more acute…
- Trial name
- ASSERT (NCT00102791)
- Testing
- ICA-17043
- Where
- 49 sites in United States, Brazil and 4 more
- Volunteers
- 297 people
- Sponsor
- Icagen
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
Sickle Cell Disease
TMLI and Alemtuzumab for Treatment of Sickle Cell Disease
This phase I trial tests the safety and effectiveness of total marrow and lymphoid irradiation (TMLI) and alemtuzumab as a conditioning regimen in patients with sickle cell disease.
- Trial name
- NCT05384756
- Testing
- Alemtuzumab, Hematopoietic Cell Transplantation, Intensity-Modulated Radiation Therapy
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
Gout, Low Medication Adherence
SToRytelling to Improve DiseasE Outcomes in GOut: The STRIDE-GO2 Study
The objective is to test the efficacy of a patient-centered, culturally relevant narrative intervention, or "storytelling," based on the solid conceptual foundation of the narrative communication theory and the constructs of the…
- Conditions
- Gout, Low Medication Adherence, Health Related Quality of Life
- Trial name
- STRIDE-GO2 (NCT02741700)
- Testing
- Gout Storytelling Video Intervention
- Where
- 3 sites in United States
- Volunteers
- 306 people
- Sponsor
- VA Office of Research and Development