View clinical trials related to Genetic Diseases, Inborn.
Filter by: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.
According to french recommandations for IUGR management we have to propose a CGH-array analysis if the IUGR is severe (bellow the 3rd percentile) and early (in the second trimester). However there is no data to support this point of view.
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.
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25 member 46 (SLC25A46) gene.
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.
The overall purpose of this proposed study is to improve management of vaso-occlusive episodes (VOEs) in adult EDs. We aim to implement NHLBI recommendations for VOE treatment by embedding Individualized Pain Plans (IPPs) in the electronic health record (EHR). The EHR-embedded IPP will serve as a record of patients' SCD genotype and will include analgesic medication recommendations developed by the SCD provider. In this project, we will provide access to the IPP for both adult patients with SCD and ED providers. The proposed multisite study will use a pre-post study design, with a core set of mandatory intervention components and strategies for each participating site and optional components and strategies to allow for intervention adaptation to local needs and resources. The EHR-embedded IPP will be available for all adult ED providers to use as their routine practice, and patients will be invited to participate and enroll in the study. We will use a simplified Technology Acceptance Model to explain the use of the IPP and the RE-AIM framework to assess the Reach, Effectiveness, Adoption, Implementation, and Maintenance of the intervention.
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
We 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.
This study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.