Clinical trials: Neonatal Screening
Infant, Newborn, Diseases
Baby Sickness Evaluation
The goal of this prospective single center feasibility study is to assess the feasibility of using BabyCheck and PO by GPs as an illness severity score for young infants > 6 months of age in order to aid the decision for referral…
- Trial name
- BeSurE (NCT05954975)
- Testing
- BabyCheck and pulse oximetry
- Volunteers
- 1,500 people
- Sponsor
- Ilona C Narayen, MD pHD
Digital Storytelling
Digital Storytelling and Mother's Knowledge and Attitudes Towards Newborn Screning
The aim of this study is to examine the effect of health education supported by digital storytelling on mothers' knowledge and attitudes towards newborn screening.
- Trial name
- NCT07450742
- Testing
- HEALTH EDUCATION SUPPORTED BY DIGITAL STORYTELLING
- Volunteers
- 128 people
- Sponsor
- Kirsehir Ahi Evran Universitesi
Type 1 Diabetes, Familial Hypercholesterolemia
Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany
This is a Pilot/ feasibility study for a population-based Screening in all children 2 to 6 years in Lower Saxony, Germany during the compulsory (U7 (from the age of 2) U7a, U8, U9) routine check-ups and any voluntary visits to…
- Trial name
- Fr1dolin (NCT02750527)
- Volunteers
- 13,049 people, healthy volunteers welcome
- Sponsor
- Kinderkrankenhaus auf der Bult
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cystic Fibrosis, Sensorineural Hearing Loss
Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
The purpose of this study is to find out whether the High Frequency Digit Triplet test can be used to screen patients with cystic fibrosis for hearing loss in conditions of health and pulmonary exacerbation.
- Trial name
- 3D-CF (NCT02252601)
- Testing
- HFDT test, Pure tone Audiogram
- Where
- 3 sites in United Kingdom
- Volunteers
- 388 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Critical Congenital Heart Disease, High Altitude
Oxygen Saturation and Perfusion Index ın Neonates at High Altitude
Congenital heart diseases are among the most common congenital anomalies and occur with an incidence of approximately 8ınd12 / 1,000 live births worldwide.
- Trial name
- NCT04290481
- Testing
- oxygen saturation and perfusion index screening
- Where
- Turkey (Türkiye)
- Volunteers
- 501 people, healthy volunteers welcome
- Sponsor
- Ataturk University
Sickle Cell Trait, Sickle Cell Disease
Blood Sampling for Research Related to Sickle Cell Disease
This study will collect representative blood samples from healthy children and adults and from children and adults who have unique red blood cell features that are related to sickle cell disease.
- Conditions
- Sickle Cell Trait, Sickle Cell Disease, Sickle Cell Anemia
- Trial name
- NCT00542230
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Pseudomonas Infection, Cystic Fibrosis
Role of Toxins in Lung Infections Caused by Pseudomonas Aeruginosa
Some bacteria that cause disease can produce toxic substances that may worsen the disease. Pseudomonas aeruginosa is a bacteria that can produce a variety of toxins and is of special interest for patients with cystic fibrosis and…
- Trial name
- NCT00027183
- Where
- United States
- Volunteers
- 134 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Neonatal Screening
Parent Education and Choice About Newborn Screening and Bloodspot Retention
To address the content, timing, efficacy, and impact of prenatal education about newborn screening generally and sample retention specifically.
- Trial name
- NCT02676245
- Testing
- Viewing Newborn Screening movie, Viewing Residual Dried Blood Spot movie
- Volunteers
- 664 people
- Sponsor
- University of Utah
Familial Hypercholesterolemia, Cholesterol, Elevated
Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational…
- Conditions
- Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease
- Trial name
- ID-FH (NCT05238519)
- Testing
- Motivational interview (MI)
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Essentia Health
Hereditary Cancer Syndromes
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
The investigators hypothesize that pregnancy and preconception care may be a feasible and effective time to offer inherited cancer risk screening.
- Trial name
- FOCUS (NCT07052266)
- Testing
- MyRisk Hereditary Cancer Test
- Where
- 5 sites in United States
- Volunteers
- 550 people
- Sponsor
- Weill Medical College of Cornell University
Malaria, Vivax, G6PD Deficiency
Operational Feasibility of Appropriate Radical Cure of Plasmodium Vivax With Tafenoquine or Primaquine After Quantitative G6PD Testing in Brazil
This is an observational study carried out in Brazil in patients with P. vivax malaria. The study will be carried out in the municipalities of Manaus (state of Amazonas) and Porto Velho (state of Rondônia).
- Trial name
- Trust (NCT05096702)
- Testing
- Tafenoquine, Primaquine
- Where
- 41 sites in Brazil
- Volunteers
- 16,000 people
- Sponsor
- Fundação de Medicina Tropical Dr. Heitor Vieira Dourado
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
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
Sickle Cell Anemia
Carbon Monoxide Measurement to Screen for Sickle Cell Disease
Modify the design of the CoSense device (Model C20112, currently cleared by the FDA for ETCO (end-tidal carbon monoxide) monitoring to improve accuracy and consistency under temperature conditions encountered in countries with…
- Trial name
- SCDCO (NCT02530242)
- Testing
- End-tidal Carbon Monoxide Subjects, End-tidal Carbon Monoxide Controls
- Volunteers
- 32 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Cardiovascular Diseases, Dyslipidemias
Evaluation of Cascade Screening for Elevated Lipoprotein(a)
The aim of the current project is to evaluate the penetrance of elevated plasma Lp(a) levels in patients with atherosclerotic coronary artery disease to their first- and second-degree biological relatives based on data from a…
- Conditions
- Cardiovascular Diseases, Dyslipidemias, Hereditary Diseases
- Trial name
- LipoaScreen (NCT06157983)
- Testing
- measurement of lipoprotein(a)
- Where
- Sweden
- Volunteers
- 1,950 people
- Sponsor
- Karolinska Institutet
Lynch Syndrome
Multi-Organ Screening Recommendations in Patients With Lynch Syndrome
The purpose of this study is to examine how people with a family history of colon cancer and other related cancers respond to recommendations for cancer screening after genetic counseling.
- Trial name
- NCT00582296
- Testing
- questionnaires, telephone interview, optional blood drawn, questionnaires, telephone interview and optional blood drawn
- Where
- 8 sites in United States
- Volunteers
- 1,530 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cardiac Amyloidosis
AI Echocardiographic Screening of Cardiac Amyloidosis
Recent advances in machine learning and image processing techniques have shown that machine learning models can identify features unrecognized by human experts and accurately assess common measurements made in clinical practice.
- Trial name
- NCT06664866
- Testing
- EchoNet-LVH Assessment
- Where
- 4 sites in United States
- Volunteers
- 500 people
- Sponsor
- Cedars-Sinai Medical Center
Genetic Screening, Hereditary Disease
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary…
- Conditions
- Genetic Screening, Hereditary Disease, Newborn, Stillbirth
- Trial name
- NCT04905537
- Testing
- No intervention
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Children's Hospital of Fudan University
Cystinosis, Primary Hyperoxaluria
Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
In Germany parents of newborns are offered newborn screening (NBS) for 17 congenital diseases as a standard benefit of statutory health insurance. NBS in Germany is voluntary. Cystinosis and hyperoxaluria are very rare diseases.
- Trial name
- GENESIS (NCT05843851)
- Testing
- Diagnostic test
- Where
- Germany
- Volunteers
- 200,000 people
- Sponsor
- Cystinose Stiftung