View clinical trials related to Autosomal Recessive Disorder.
Filter by:This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal recessive conditions will be performed on each member of the couple. A combined result will be issued indicating whether the couple has a 'low' or 'increased' risk of having a child with a genetic condition. It is anticipated that 1-2% of couples will be at an increased risk of having an affected child. The study will evaluate all aspects of the RGCS program to assess the feasibility and acceptability of a publicly-funded population-wide RGCS program, including: - education of recruiting healthcare providers - education of participating couples - implementation and uptake of RGCS - frequency of increased-risk couples and their reproductive decisions - psychosocial impacts - ethical issues - health economic implications - health implementation research
A standard part of obstetrical care is offering prenatal genetic screening. Numerous professional guidelines have emphasized the importance of pretest counseling for prenatal genetic screenings. Informed consent includes the optional nature of the test, information on the conditions being screened, possible test results, implication of each result, and the type of test offered (screening or diagnostic). This responsibility falls on the physician in a busy clinic. Technology may be able to address this limitation and give consistent pretest counseling for patients waiting for their appointment. This study is looking to evaluate the use of computer-aided genetics education module for facilitating decision making about prenatal genetic screening and testing for fetal chromosome conditions and carrier status.
This pilot clinical trial studies total-body irradiation followed by cyclosporine and mycophenolate mofetil in treating patients with severe combined immunodeficiency (SCID) undergoing donor bone marrow transplant. Giving total-body irradiation (TBI) before a donor bone marrow transplant using stem cells that closely match the patient's stem cells, helps stop the growth of abnormal cells. It may also stop the patient's immune system from rejecting the donor's stem cells. The donated stem cells may mix with the patient's immune cells and help destroy any remaining abnormal cells. Sometimes the transplanted cells from a donor can also make an immune response against the body's normal cells. Giving cyclosporine and mycophenolate mofetil after the transplant may stop this from happening.