View clinical trials related to Genetic Diseases, Inborn.
Filter by: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.
This clinical trial collects information on how sequencing a patient's deoxyribonucleic acid (DNA) (i.e., the genetic material) could impact their health care. This study also develops and improves ways to include genomic information from DNA sequencing into the electronic health record to create a more complete "Health Tapestry" for each participant. Sequencing of a patient's DNA leads to the detection of genetic variants some of which determine risk for disease development. Discovery of those genetic variants in a patient could result in prevention, earlier diagnosis or better therapy of disease.
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.
HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during the first 12-months of the study. All participants will be eligible to receive 4 doses of CAP-1002 for an additional 12 months as part of an open-label extended assessment period.
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary critical illness.
This study evaluates the association between testosterone levels and risk of dementia and adverse mental health outcomes (e.g. depression and anxiety). It is not known whether low testosterone levels may be associated with an increased risk of dementia. Learning about the association between testosterone levels and risk of dementia may help determine the long-term effects of androgen deprivation therapy and may help improve quality of life.
Rationale: Childhood cancer survivorship attracts attention globally, because successes in treatment have led to increasing number of survivors who reach adulthood, in which survivorship issues affecting health-related quality of life (HRQoL) become prominent. Most paediatric patients are treated intensively with irradiation and/or chemotherapy, which put them at risk for early and/or late adverse medical and psychosocial events. In contrast, much less is known about adolescent and young adult (AYA) cancer patients, diagnosed between 18-39 years, who, with an 80% chance to survive, also have a long life ahead. AYA cancer patients, much more than children, suffer from delay in diagnosis, lack of centralization of care, ageadjusted expertise, and AYA follow-up care. AYAs typically present with a rare tumour: either with a paediatric malignancy (e.g. acute lymphoblastic leukaemia, paediatric brain tumours), a more typical tumour of AYA age (e.g. Hodgkin's disease, germ cell cancer, melanoma, thyroid cancer) or with an adult tumour at unusual young age (e.g. gastrointestinal, lung, breast carcinomas). Next to these differences in epidemiology, the tumour biology, developmental challenges (e.g. forming relationships, becoming financially independent, having children) and treatment regimens differ between AYAs and children, and therefore findings derived from childhood cancer survivors cannot be extrapolated to AYAs. Furthermore, novel treatments with targeted agents or immunotherapy are more likely to be administrated to AYAs compared to children. Finally, a rare group of incurable AYA cancer patients will survive for many years, for whom health outcome and supportive care intervention data are lacking. Globally, so far, the identification of AYA cancer patient subgroups that might be more susceptible to poor health outcomes has not been systematically addressed. The role of sociodemographic and treatment-associated risks, external exposures (e.g. lifestyle) and host factors (e.g. genetic, biological, physiological); or combinations of influences for impaired (agespecific) health outcomes, remains largely unknown. Understanding who is at risk and why will support the development of evidence-based AYA prevention, treatment and supportive care programs and guidelines, in co-creation with AYA cancer patients. Objective: To examine the prevalence, risk factors and mechanisms of impaired health outcomes (short- and long-term medical and psychosocial effects and late effects) over time among a population-based sample of AYA cancer patients. Study design: Prospective, observational cohort study Study population: All AYAs diagnosed (18-39 years at primary diagnosis) with cancer (any type) within the first 3 months after diagnosis (eligibility window of 1 month to ensure all eligible AYA cancer patients can be included) in one of the participating centres (or treated in one of these centres) in The Netherlands. Main study parameters/endpoints: The main outcomes are medical (e.g. second tumour; survival; fertility) and psychosocial (e.g. distress) health outcomes. Other study parameters (covariates/moderators/mediators) are characteristics of the individual (e.g. age, sex, cultural background, partner status, educational level, occupation, tumour type, disease stage, body composition, comorbid conditions, coping style), characteristics of the environment (e.g. cancer treatment, lifestyle), and genetic and biological factors (e.g. family history of cancer, stress and inflammation markers (e.g. cortisol, IL-6), microbiome). Nature and extent of the burden and risks associated with participation, benefit and group relatedness: On an individual level, patients who participate are asked to complete questionnaires on an annual basis for at least 10 years. All sample collections will take place at three time points: 0-3 months after diagnosis (baseline), 2 and 5 years; except blood for DNA analyses which will only take place at baseline. The collection of blood, hair and faeces at three occasions is minimally invasive and the risks of blood draws, hair and fecal sampling are negligible. All safety measures and procedures will be performed according to local guidelines. Patients will not experience direct benefit from participation in the COMPRAYA study. By participating, patients will contribute to a better insight in the prevalence of impaired medical and psychosocial (age-specific) health outcomes in AYA and evidence on factors associated with these health outcomes. This will lead to better and more personalized cancer care and supportive care tools for future AYA cancer patients.
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited over approximately 5 years time.
UPTIDER is a prospective, interventional, non-Investigational Medicinal Product (non-IMP), non-commercial, single centre post-mortem tissue donation program for metastatic breast cancer patients or patients with a germline pathogenic variant with a moderate to high lifetime risk of breast cancer and at least one malignancy at time of death. The overarching objective of UPTIDER is (i) to unravel metastatic breast cancer evolution, biology, heterogeneity and treatment resistance and (ii) to assess pathogenicity and tumour biology in hereditary cancer syndromes with a high lifetime risk of breast cancer; both through extensive post-mortem multi-level and multi-region sample analysis.
The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation genetic testing (PGT). Patients indicating willingness to participate in research during informed consent to perform PGT will be eligible for inclusion. A licensed genetic counselor will conduct a recorded interview.