Clinical trials: Carrier State
Severe Combined Immunodeficiency
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
The purpose of this study is to learn what factors influence adolescent girls' decisions regarding testing for carrier status of X-Linked Severe Combined Immunodeficiency (XSCID).
- Trial name
- NCT00006335
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
ACL Tear
Augmentation of Anterior Cruciate Ligament Reconstruction Using Mesenchymal Stem Cells and Collagen Matrix Carrier
The goal of this observational study is to compare patient outcomes for reconstructive surgery of ACL tears. This study utilizes two randomized groups, one being the control group that receives standard ACL reconstructive…
- Trial name
- BioACL (NCT05582226)
- Testing
- ACL reconstruction, Mesenchymal stem cell implantation
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Andrews Research & Education Foundation
brca1 Mutation Carrier, brca2 Mutation Carrier
Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
RATIONALE: Drugs used in chemotherapy, such as carboplatin and docetaxel, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing.
- Conditions
- brca1 Mutation Carrier, brca2 Mutation Carrier, Breast Cancer, Hereditary Breast/Ovarian Cancer (brca1, brca2)
- Trial name
- NCT00321633
- Testing
- carboplatin, docetaxel
- Where
- 25 sites in Australia, Israel and 4 more
- Volunteers
- 148 people
- Sponsor
- University College London Hospitals
Carrier of Hemophilia A, Desmopressin
Genetic Factors of the Desmopressin Response in Carriers of Hemophilia A
Hemophilia A (HA) is a rare X-linked bleeding disorder caused by a deficiency in factor VIII (FVIII) affecting 1/5,000 males1. Carriers of HA are females carrying the pathogenic variant responsible for the familial HA at a…
- Conditions
- Carrier of Hemophilia A, Desmopressin, Factor VIII Deficiency
- Trial name
- GIDEHAC (NCT06020456)
- Testing
- Desmopressin
- Where
- 12 sites in France
- Volunteers
- 361 people
- Sponsor
- Groupe Maladies hémorragiques de Bretagne
Inherited Cardiac Conduction Disorder, Cardiomyopathies
A Psychoeducational Intervention Supporting Patients With an Inherited Cardiac Condition
Inherited heart conditions (IHCs) can cause young sudden deaths due to a genetic trait that leads to a thickened heart muscle or abnormal heart rhythms.
- Trial name
- PISICC (NCT03602040)
- Testing
- PISICC
- Where
- United Kingdom
- Volunteers
- 24 people
- Sponsor
- King's College London
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
Retinitis Pigmentosa
Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
- Trial name
- NCT06368375
- Where
- Germany
- Volunteers
- 87 people
- Sponsor
- University Hospital Tuebingen
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
Chronic Hepatitis B
The Study on Optimal Treatment and Clinical Outcome of Chronic Hepatitis B Patients With Inactive Hypoviremia
Chronic hepatitis B seriously endangers the health of our people, especially the occurrence of HCC, which brings huge economic burden and life threat to our people. 84% - 92% of HCC in China is related to chronic HBV infection.
- Trial name
- NCT05357235
- Testing
- PEG-IFN
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- Beijing Ditan Hospital
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
Registry for Duchenne and Becker Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy Symptomatic Female Carrier
- Trial name
- FAIR-DMD (NCT07402122)
- Where
- 30 sites in Austria, Germany
- Volunteers
- 1,500 people
- Sponsor
- Dr. Andreas Ziegler
Pseudomonas Aeruginosa, Cystic Fibrosis
The Carrier Rates of Pseudomonas Aeruginosa in Family Members of Children With Cystic Fibrosis
Pseudomonas aeruginosa (Pa) is the bacterium that causes one of the most consequential lung infections in people with CF. Many young children do not have Pa in their lungs but will become infected as they get older.
- Trial name
- NCT01616862
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- Zafer Soultan
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
Enterobacteriaceae Infections, Carrier State
Study of Probiotic Adjunctive Therapy for Decolonization of Carbapenem-Resistant Enterobacterales
To evaluate the efficacy of probiotic preparations as adjunctive therapy for the decolonization of intestinal carbapenem-resistant organisms (CRO), in comparison with conventional antibiotic therapy alone, with the primary…
- Trial name
- NCT07707869
- Testing
- Probiotic Preparation, Conventional Antibiotic
- Where
- 2 sites in China
- Volunteers
- 20 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Hepatitis Delta With Hepatitis B Carrier State, Chronic Hepatitis b
Hepatitis Delta Virus Infection: Cross-sectional Study in Patients With Chronic Hepatitis B Virus Infection
The goal of this observational study is to determine the prevalence of hepatitis D virus (HDV) and the distribution of the HDV genotype in patients with chronic hepatitis B infection.
- Trial name
- NCT06638320
- Where
- 3 sites in Vietnam
- Volunteers
- 2,452 people
- Sponsor
- Tam Anh Research Institute
HIV Infections
A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 Immunoglobulin G (rCD4-IgG) in Infants and Children With Documented HIV-1 Infection
To determine the safety profile, assess pharmacokinetic properties (blood levels), and obtain preliminary indication of the antiviral and immunologic effects of recombinant CD4 immunoglobulin G (CD4-IgG).
- Trial name
- NCT00000663
- Testing
- CD4-IgG
- Where
- 7 sites in United States
- Volunteers
- 18 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Congenital Heart Surgery
The Effect of Using Multifunctional Baby Carrier With Heart Surgery
The study aims to investigate the effect of using a multifunctional baby carrier with rocking, safe swaddling, and white noise features on physiological parameters, crying, and sleep status in infants aged 0-3 months who have…
- Trial name
- NCT07319858
- Testing
- Multifunctional Baby Carrier
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people
- Sponsor
- Istanbul University - Cerrahpasa
Group 1: Carrier Care (CC) Followed by Skin-to-Skin Care (SSC) Followed by Family Choice, Group 2: Skin-to-Skin Care (SSC) Followed by Carrier Care (CC) Followed by Family Choice
Carrier Care: An Innovative Approach to Support Small Babies in the NICU
The significance of skin-to-skin care (SSC) for neonatal infants is well-documented, highlighting its benefits for both the infant and the caregiver.
- Trial name
- NCT07142564
- Testing
- Carrier Care (CC)
- Volunteers
- 100 people
- Sponsor
- University of Arizona
Newborn Cleft Lip and Slot Carrier
Biochemical and Histological Comparison of Nasal and Auricular Cartilage in the Fetus and Newborn With Cleft Lip Carrier
We seek to compare biochemically and histologically the nasal cartilage and ear in the newborn cleft lip and slot carrier in order to improve the quality of care and patient comfort after surgery of cheilorhinoplasty which is the…
- Trial name
- CARTOON (NCT02505360)
- Testing
- Measurements of concentration of hyaluronic acid as well as in type 1 collagen and 3
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Caen
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
Hemophilia A, Hemophilia A, Severe
Hemophilia A Research Program
This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood.
- Conditions
- Hemophilia A, Hemophilia A, Severe, Factor VIII (FVIII), FVIII Deficiency
- Trial name
- HARP (NCT07414511)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Washington