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Hereditary Diseases clinical trials

View clinical trials related to Hereditary Diseases.

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NCT ID: NCT05453474 Completed - Hereditary Diseases Clinical Trials

Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

Start date: August 8, 2021
Phase: N/A
Study type: Interventional

The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.

NCT ID: NCT02917070 Completed - Hereditary Diseases Clinical Trials

Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population

CAKD
Start date: February 2016
Phase: N/A
Study type: Observational [Patient Registry]

Inbreeding and consanguineous marriages are known to increase the risk of autosomal recessive disorders. The aim of this study was to examine the association between consanguinity and kidney diseases in the adult Turkish population.

NCT ID: NCT02416440 Completed - Diabetes Mellitus Clinical Trials

Durban Diabetes Study:A Study of the Epidemiology of Diabetes Mellitus in Urban South Africans of African Descent (DDS)

DDS
Start date: January 2014
Phase: Phase 0
Study type: Observational

Type 2 diabetes (T2D) is an emerging epidemic in sub-Saharan Africa, with an estimated prevalence of 6%. With around seven million cases of T2D in 2000, it is anticipated that over 18 million Africans will have the disease by 2030. In South Africa the prevalence of T2D in people of African descent has been reported to be between 3-10%. However, there have been limited studies on diabetes epidemiology in South Africans using currently employed World Health Organization (WHO) criteria. To assess the burden of T2D and associated risk factors in South Africa, we are establishing the Durban Diabetes Study (DDS) - a population-based cross-sectional study in the city of Durban (the eThekwini municipality) to be undertaken in 1,200 participants of African descent. In-depth health questionnaire responses, biophysical measurements and blood and urine samples will be gathered from these participants. These data will allow researchers to estimate the population prevalence of T2D and associated risk factors in the region. The infrastructure created for this cross sectional study has the potential to serve as a strong framework for future research initiatives and public health interventions within the region.

NCT ID: NCT01343953 Completed - Relapse Clinical Trials

Cord Blood Transplantation in Severe Aplastic Anemia

APCORD
Start date: May 2011
Phase: Phase 2
Study type: Interventional

This is a Prospective Phase II Study to evaluate Cord Blood Transplantation in Inherited or Acquired Severe Aplastic Anemia Refractory or in Relapse after Immunosuppressive Therapy in the absence of an HLA identical donor;

NCT ID: NCT00001466 Completed - Hereditary Diseases Clinical Trials

Study of Clinical and Molecular Manifestations of Genetic Disorders

Start date: October 1994
Phase: N/A
Study type: Observational

This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders. It will also try to locate the abnormal genes responsible for these conditions and eventually develop tests to predict who is likely to be affected and to what degree. Patients with known or suspected genetic disorders in certain categories, such as those involving chromosomal or metabolic abnormalities, immune system or blood disorders, abnormal growth, benign tumors, and others may be eligible for this study. Participants will be interviewed by specialists in genetics about their condition and family history. They may also be asked to have a physical examination and certain tests needed for study of the specific individual's condition. These may include collection of blood samples (up to 3 tablespoons); imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), ultrasound and echocardiography; skin biopsy (removal of a small sample of skin tissue under local anesthetic), and other procedures. DNA testing may reveal the genetic abnormality responsible for the disorder. Participants who so wish will have an opportunity to talk with experts about the health implications of the test results. This study may provide information that will lead to improved treatment or management of these inherited disorders, as well as more effective genetic counseling for families.