View clinical trials related to Undiagnosed Diseases.
Filter by:The main clinical study objective is to confirm the accuracy of the Glyconics-DS spectrometer when used in its intended medical purpose population, i.e., in individuals with unknown diabetes risk. Additionally, this investigation will serve as a pivotal performance evaluation for the associated software for correct delivery of the algorithm-based analysis of the individual diabetes risk. The study will be considered positive if the backend delivery of the chemometrics output is performed correctly as per the cloud-based analysis and its delivery represents the essential medical software to be evaluated in this investigation. The 'true' diabetes risk will be contrasted against values of an internal biomarker indicative of glycaemia, HbA1c, as measured based on standardised, certified methodology.
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects. Objective: To learn how the caregiving process affects the health and well-being of caregivers over time. Eligibility: Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities. Design: Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years. Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support. Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life. Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving. Participants may give a blood sample each year they are in the study. ...
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.
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases. Objective: To collect blood and tissue samples for studies to identify underlying causes of disease. Eligibility: People of all ages Design: Participants will have blood and/or tissue samples collected. Samples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site. For blood samples, blood is taken from an arm vein using a needle. Tissue collection may involve: Buccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab. Saliva collection: Participants spit into a cup. Skin biopsy: A special needle takes a very small skin sample. Surgical waste tissue: If participants have surgery, NIH may receive samples of tissue that would routinely be removed. Umbilical cord or cord blood collection: If a participant has a baby, NIH may receive a small piece of the umbilical cord or blood from the cord once the baby is delivered.
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.