Clinical trials: Genetic Screening
Cystic Fibrosis
Capsule Endoscopy in Cystic Fibrosis
Cystic Fibrosis patients continue to have bowel problems even after adequate pancreatic enzyme supplementation. There may be pathology of the lining of the bowel. Capsule endoscopy will be used to photograph the entire bowel.
- Trial name
- NCT00333957
- Where
- Israel
- Volunteers
- 200 people
- Sponsor
- Hadassah Medical Organization
Hearing Loss, Sensorineural, Cystic Fibrosis
A Study of Web and Tablet-based Interactive Audiometry in Adults With CF
Adults with CF regularly receive anti-infective therapy that can result in impaired hearing. Recent studies have identified that up to 50% of adults with CF have hearing loss with resulting significant impact on quality of life.
- Trial name
- NCT04400955
- Testing
- Audiometry tablet diagnostic tool and web-based test
- Where
- United Kingdom
- Volunteers
- 156 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Sickle Cell Disease
Screening Patients With Sickle Cell Disease for Kidney Damage
This study aims to study the temporal course of sickle nephropathy and assess novel biomarkers that can predict patients prone to nephropathy.
- Trial name
- NCT02239016
- Where
- 4 sites in United States
- Volunteers
- 320 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Thoracic Cancers, Malignant Pleural Mesotheliomas NOS
Evaluation of Cell Changes in Blood and Tissue in Cancers of the Lung, Esophagus and Lung Lining
Background: Chromatin is is the structural building block of a chromosome. It is found inside the nucleus of the cell and consists of a complex of DNA and protein.
- Conditions
- Thoracic Cancers, Malignant Pleural Mesotheliomas NOS, Lung Cancer NOS, Esophageal Cancers NOS
- Trial name
- NCT00242723
- Where
- United States
- Volunteers
- 1,559 people
- Sponsor
- National Cancer Institute (NCI)
Thalassemia
Development of THALEA Kit and Its Impact on Knowledge, Attitude, and Intention for Premarital Thalassemia Screening
Thalassemia, a common genetic disease, is often overlooked compared to infectious diseases like HIV, despite its significant effects for families planning to have children.
- Trial name
- THALEA (NCT06800495)
- Testing
- THALEA (Thalassemia Education and Awareness) Kit, Basic thalassemia and family health education
- Where
- Malaysia
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Universiti Teknologi Mara
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Breast Cancer, Genetic Susceptibility
ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies
This is a community-based prospective study and the research object is breast cancer patients. It is planned to take the community as the unit to inform and collect the breast cancer patients who voluntarily participate to carry…
- Trial name
- SIGHT (NCT04265937)
- Where
- China
- Volunteers
- 5,000 people
- Sponsor
- Fudan University
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
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)
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
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
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
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
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Gaucher Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang