Active clinical trials for "Genetic Diseases, Inborn"

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.

Blastocysts derived from patients seeking infertility treatment were generated by in vitro fertilization and embryo culture as previously described, and were evaluated using the Gardner system. As part of the embryo selection process, cells of TE biopsy were collected, and blastocysts were vitrified. The clinical TE biopsies were subjected to whole genome amplification (WGA) with SurePlex reagents (Illumina) followed by NGS-based PGT-A using Illumina's VeriSeq kit (Illumina) on a MiSeq system (Illumina) according to the manufacturer's protocol.

For children who use a power wheelchair, a powered wheelchair standing device (PWSD) may be considered for daily use. A PWSD allows a child to electronically move between sitting and standing and can be driven in either position. Existing published PWSD research in pediatrics is limited to boys with Duchenne muscular dystrophy (DMD).(1, 2) While these studies provide some insights into PWSD use in boys with DMD, they do not reflect PWSD use in children with other conditions. The purpose of this exploratory study is to determine the feasibility of a research protocol exploring use of a PWSD in children who have neurodevelopmental conditions other than DMD.

Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.

The goal of this sequential study design is to increase genetic testing in those meeting national clinical guidelines. The main question it aims to answer is: which intervention is most effective in uptake of genetic testing for the target population? Participants will receive genetic testing and counseling that may initiate life-saving screenings.

The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are: Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor? Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results? Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study? Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.

Infertile women attending for PGT at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital and Kwong Wah Hospital will be recruited during ovarian stimulation for IVF. Subsequently, they will be randomly assigned on the day of oocyte retrieval by a laboratory staff into one of the following two groups in a 1:1 ratio : (1) the microfluidic chip group and (2) the density gradient centrifugation group for sperm preparation and subsequent use in fertilization. Other IVF procedures will be the same as the standard practice of the Centre. Both women and clinicians will be blinded from the group allocation i.e. a double blind study.

Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.

Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinical features in a Biorepository as a standardized resource for future research studies. The purpose of the Genomic Institute Biorepository is to provide consented samples and data for basic and clinical research related to the genomic cause and treatment of childhood disease, and, in the future, as reference (Quality Control) data to improve the ability to make clinical diagnoses or clinical decisions. In addition, the Biorepository will provide a mechanism for making a diagnosis of a genetic disease. That is, once genomic sequences have been derived from biological samples, they will be immediately analyzed. If a genetic disease is identified that appears to explain an affected child's clinical features, then those results will be confirmed by the medically accepted standard, and placed in the electronic health record.

Amniocentesis (amnio) and chorionic villus sampling (CVS) can reliably detect many smaller DNA/genetic abnormalities that cannot be reliably diagnosed by cell-free noninvasive prenatal testing (NIPT) that is in widespread use. The investigators present evidence that a cell-based form of NIPT, here called Single Fetal Cell (SFC) testing, using a blood sample from the mother can detect most or all of the genetic abnormalities that are detected using amnio or CVS. This study proposes to compare the effectiveness of SFC testing in detecting abnormalities already detected by amnio or CVS in women already undergoing these tests as part of their clinical care because of fetal ultrasound abnormalities.