Clinical trials: Carrier Screening
Thalassemia, Iron Deficiency
Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter
β thalassemia is an autosomal recessive hemoglobinopathy and considered as the most widespread genetic mutation. According to the World Health Organization (WHO) between 1.5-7% of the world population are carriers for this…
- Trial name
- NCT00481221
- Testing
- Observation of results from laboratory tests
- Where
- Israel
- Volunteers
- 30,000 people
- Sponsor
- HaEmek Medical Center, Israel
Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal…
- Conditions
- Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia, Colon Cancer
- Trial name
- NCT00154960
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Inflammatory Bowel Disease, Hepatobiliary Disease
Risk of Methicillin-resistant S.Aureus (MRSA) Infections in MRSA Carrier Under Introduction of Rapid MRSA Screening
This study was designed to evaluate the effect of a targeted preoperative Methicillin-resistant Staphylococcus aureus (MRSA) detection by polymerase chain reaction (PCR) on either endogenous or exogenous postoperative MRSA…
- Conditions
- Inflammatory Bowel Disease, Hepatobiliary Disease, Pancreas Disease
- Trial name
- NCT01918813
- Testing
- vancomycin, mupirocin ointment
- Where
- Japan
- Volunteers
- 662 people
- Sponsor
- Chikara Tashiro
Spinal Muscular Atrophy
Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System
In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR…
- Trial name
- NCT00155168
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Hgb C Hemoglobinopathy
Characteristics of Hgb C Carriers in Northern Israel and Clinical Features Among Hgb Homozygous
Hgb C is an hemoglobinopathy quite rare in Israel. The clinical status of patients that are diagnosed as homozygous to this disease is quite benign but not study in large groups.
- Trial name
- NCT00481260
- Testing
- Medical history and basic laboratory analysis
- Where
- Israel
- Volunteers
- 100 people
- Sponsor
- HaEmek Medical Center, Israel
Paraganglioma, Pheochromocytoma
Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers
Hereditary paraganglioma -due to SDH (SDHD, SDHB, SDHC) germline mutations- causes paragangliomas and pheochromocytomas. Presymptomatic genetic testing should be offered to all first-degree relatives if an SDH mutation is…
- Trial name
- NCT00188019
- Testing
- diagnosis methods
- Where
- France
- Volunteers
- 248 people
- Sponsor
- University Hospital, Angers
Diagnoses Disease
Evaluation of HemoTypeSC as a Novel Rapid Test for Point-of-Care Screening for Sickle-Cell Disease, Hemoglobin C Disease, and Carrier Status in Low-Resource Settings
Sickle cell disease is a life-threatening genetic disorder that can be effectively treated following early diagnosis via newborn screening.
- Trial name
- NCT03619798
- Testing
- HemoTypeSC
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Silver Lake Research Corporation
Enterobacteria Non Susceptible to Carbapenem Carrier, Enterobacteria Susceptible to Carbapenem Carrier
Carbapenem-resistant Enterobacteriaceae: Prevalence, Risk Factors and Impact of the Use of the Phenotypic Algorithm for the Detection of Carbapenemases
The non-susceptibility of enterobacteriaceae isolates to carbapenem (CARBA) is an emerging concern with a high impact on infectious disease therapy.
- Trial name
- E-CARB (NCT02127450)
- Where
- France
- Volunteers
- 525 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris