View clinical trials related to Genetic Diseases, Inborn.
Filter by:For some neurological and neurodegenerative diseases genetic inheritance is well documented (described as Mendelian or multifactorial), but sometimes specific mutations or family segregation evidences have not been identified. Considering this scenario, most of the times it is impossible or unlikely to identify the responsible gene, or the private mutation, of a patient affected by a neurodegenerative disease. New technologies such as Next Generation Sequencing (NGS), allow the analysis of hundreds of genes in a single experiment. The implementation of these technologies will help to identify new genes and new variants associated with neurological diseases. Using this approach, several molecular genetic diagnosis will definitely find the needle in a haystack, and will be able to be used in the clinical practice.
Investigators 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.
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
Interstitial lung disease is a chronic progressive fibrosis lung disease that with a highly variable clinical process.thence it is significant for the patient to search a convenient and accurate prediction method. The objective of this study was to determine whether peripheral blood biomarkers can predict disease .
This study is a longer-term follow-up study for patients who have been administered AAV2/5-OPTIRPE65 in the Phase I/II, open label, non-randomised, two-centre, dose escalation trial in adults and children with retinal dystrophy associated with defects in RPE65.
Muscular Dystrophy can affect the skeletal muscles and also the heart and breathing muscles, causing significant morbidity and mortality. As patients are now living longer, treatment of muscular dystrophies involves drugs that help improve heart function. However, better types of heart imaging studies are needed to understand how these treatments work. Researchers want to improve heart imaging to identify earlier indicators of heart dysfunction in muscular dystrophy patients and how these are changed by medical treatment. The new imaging indicators will also help identify candidates for entry into future clinical trials.
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.
Inbreeding and consanguineous marriages are known to increase the risk of autosomal recessive disorders. The aim of this study was to examine the association between consanguinity and kidney diseases in the adult Turkish population.
The purpose of this study is to investigate the differences in the quality of life of patients and caregivers who are treated by general pediatricians versus pediatric dermatologists for eczema (atopic dermatitis or AD).
In 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.