Clinical trials: Genetic Screening
Sickle Cell Disease
Evaluation of an Information Management and Communication System for Population-wide Point-of-Care Infant Sickle Cell Disease Screening
A cluster randomized trial (CRT) of the novel sickle cell disease (SCD), M-health based SCD Information Management and Communication system SIMCS vs routine new born screening strategy in health care centres in Uganda to evaluate…
- Trial name
- SMICS (NCT07610239)
- Testing
- Sickle Cell Disease screening information management and communication system
- Where
- Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Cystic Fibrosis
Perceptions of the CF Screening Protocol Incorporating NGS
Newborn bloodspot screening (from now on referred to as screening) for cystic fibrosis (CF) became part of the national screening programme in 2007. Screening for CF is also well established internationally.
- Trial name
- NCT06299566
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- King's College London
Emphysema, Chronic Obstructive Pulmonary Disease
Emphysema Research Registry and Biosample Repository
The Comprehensive Lung Center (CLC) at the University of Pittsburgh Medical Center (UPMC Health System) provides patients with any type of breathing or lung disorder a full range of diagnostic and therapeutic services.
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis
- Trial name
- NCT00307281
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health.
- Trial name
- PSYSMA (NCT07208903)
- Testing
- focus group discussions, Interview with the psychologist
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cardiovascular Diseases, Cancer
Genomic Medicine Risk Assessment Care for Everyone - Implementation Phase
The "Genomic medicine Risk Assessment Care for Everyone" (GRACE)" intervention project will develop a scalable end-to-end solution for risk assessment and management that meets the needs of those populations living in low…
- Conditions
- Cardiovascular Diseases, Cancer, Liver Diseases, Hyperthermia
- Trial name
- GRACE (NCT06278883)
- Testing
- Disease Risk Assessment
- Where
- 4 sites in United States
- Volunteers
- 245 people, healthy volunteers welcome
- Sponsor
- Duke University
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Genetic Disorder, Fertility Disorders
Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage
Preimplantational genetic screen (PGS) is tool for diagnosis of embryo chromosome abnormality before transfer. Under this tool, patients with a family history of genetic disease or special genetic disease could avoid to produce…
- Conditions
- Genetic Disorder, Fertility Disorders, Reproductive Disorder
- Trial name
- NCT03065114
- Testing
- PGS
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Yeh
Autosomal Aneuploidy
Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital).
- Trial name
- SAPERER (NCT04437992)
- Testing
- NIPT
- Where
- Italy
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Azienda Usl di Bologna
Infant, Newborn
Whole Exome Screening of Newborns
The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn. Two groups of newborns born in RCOGP will be enlisted to the study: 1.
- Trial name
- NCT05325749
- Testing
- Screening, Family history record, Questionnaire survey
- Where
- Russia
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Prostate Cancer
The i4i PRODICT® Study: Evaluation of the i4i PRODICT® Test in Different Ethnic Groups (The i4i PRODICT® Study).
The i4i PRODICT® study has been developed to investigate the uptake and acceptability of the i4i PRODICT® test which combines both common and rare genetic changes (genetic variants) into one saliva-based DNA test to estimate a…
- Trial name
- NCT06636526
- Testing
- The i4i PRODICT® test., Prostate cancer screening, MRI Scan
- Where
- 3 sites in United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Familial Hypercholesterolemia
Pilot Study for a National Screening for Familial Hypercholesterolemia
A pilot study to study the feasibility of the screening of familial hypercholesterolemia within the setting of the legal medical visits at primary school.
- Trial name
- EARLIE (NCT05271305)
- Where
- Luxembourg
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier du Luxembourg
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 Trait
A Program to Increase Sickle Cell Trait Knowledge Among Parent of Young Children Identified in Newborn Screening
This is a study for parents of young children with Sickle Cell Trait (SCT) identified by newborn screening who are referred and present for in person SCT education at the Institution.
- Trial name
- SCTaware (NCT03984500)
- Testing
- Education
- Where
- United States
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Susan Creary
Hemoglobinopathies
Screening for Hemoglobinopathies in Pregnant Women
This prospective monocentric study project is to identify hemoglobinopathies in pregnant women in order to optimize antenatal care and to investigate the prevalence of hemoglobinopathies in pregnant women in Switzerland.
- Trial name
- NCT04029142
- Testing
- Review of routine lab data
- Where
- Switzerland
- Volunteers
- 1,785 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
In Vitro Fertilization
Preimplantation Genetic Screening in Women Over 35 Year
In view of insufficient evidence to routinely use Preimplantation Genetic Screening (PGS) to improve success rates after IVF, we test the hypothesis that patients with advanced maternal age (AMA) have a higher implantation rate…
- Trial name
- NCT00593671
- Testing
- Preimplantation genetic screening after embryo biopsy
- Where
- Belgium
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- KU Leuven
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Aneuploidy
Polar Body Biopsy for Preimplantation Genetic Screening
People with infertility undergoing in vitro fertilization (IVF) can test the embryos using a method called preimplantation genetic screening (PGS) before they are implanted in the uterus to possibly increase their chances of…
- Trial name
- Polar Body (NCT01574404)
- Testing
- Polar body biopsy with PGS
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Lynch Syndrome, Endometrial Neoplasms
Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer
This study will maximize identification of women with Lynch Syndrome using an enhanced screening strategy to identify those at risk.
- Conditions
- Lynch Syndrome, Endometrial Neoplasms, Ovarian Neoplasms, Colorectal Neoplasms
- Trial name
- LS2 (NCT02494791)
- Testing
- Questionnaire, Educational Material
- Where
- Canada
- Volunteers
- 886 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto