Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement...
Blood Coagulation DisorderBlood Coagulation Disorders10 moreThe aim of this prospective, observational study is to establish a dataset on the frequency of bleeding events, as well as other characteristics of bleeding events and FVIII infusions, in patients with clinically severe hemophilia A receiving prophylactic FVIII replacement therapy as standard of care. The data collected from this study may assist in providing baseline information for comparison to the Spark's investigational hemophilia A gene therapy in future Phase 3 studies.
Utilizing Free DNA in Embryo Culture for PGT
Chromosome AbnormalitiesGenetic Diseases2 moreIn the way for developing and optimizing protocol to be used as non- invasive methodology used as routine testing for PGS. This protocol is to be adapted to replace the using of life embryo cells for genetic testing and aneuploidy study as well as for any type of genetic testing including single gene disorder or HLA typing or study.
Natural History Study of CEP290-Related Retinal Degeneration
BlindnessLeber Congenital Amaurosis 107 moreA prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
Genetic Etiology in Patients With Cerebral Palsy
Cerebral PalsyGenetic Disease3 moreCerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. In our study, the investigators will re-examine the data of children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)...
Musculoskeletal DiseasesGenetic Disease2 moreThis study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.
Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective Analysis
Genetic DiseaseCNV2 moreWe aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
Modified Delphi for Genomic Bereavement Care
Fetal AnomalyBereavement1 moreIt is estimated that 1 in 4 pregnancies end in loss, be these early miscarriages, ectopic pregnancies, or later intrauterine losses for any reason. Genomics is a major part of pregnancy loss, and clinicians want to offer the best and most appropriate test available to women and their families, whilst ensuring that there is equity in the access to this testing, so that no family goes through a loss without the right support and information. Whilst there is limited information to inform professionals as to how to incorporate genomics into bereavement care there is a need to identify current expert consensus as to how this should be performed, in order to make recommendations for best practice.
Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy
Hypertrophic CardiomyopathyGenetic Disease1 moreInvestigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy.
Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo...
Genetic DisorderFertility Disorders1 morePreimplantational genetic screen (PGS) is tool for diagnosis of embryo chromosome abnormality before transfer. Under this tool, patients with a family history of genetic disease or special genetic disease could avoid to produce chromosomal abnormalities of the next pregnant. This study is a retrospective study, data collection from 2001 Jan. to 2015. Nov. Patients underwent PGS and data including the couples age, infertility factors, stimulation protocols, medicine records, embryo quality records and blood tests were collected in this study. Analysis the relationship between outcomes of PGS, clinical outcomes and embryo quality is performed and further to find a diagnosis reference for clinical care.
Uterine Irrigation Method in Infertility Patients Who Require PGD
Pre-Implantation Embryo RecoveryGenetic Diseases1 moreThe study will involve up to 30 pairs of male and female sexually intimate partners who are carriers for a genetic disease (e.g Sickle Cell Disease or Thalassemia) and at high risk of transmitting the gene. The female partner will be superovulated to mature multiple oocytes which can be fertilized, inseminated with her partner's sperm through intra-uterine insemination (IUI). Four to six days after IUI, the female partner will undergo a non-surgical uterine lavage procedure to recover preimplantation embryos.