View clinical trials related to Genetic Diseases, Inborn.
Filter by:Exercise testing has become clinically important in the management and ongoing evaluation of patients with Cystic Fibrosis (CF) with higher rates of exercise tolerance and participation previously linked to lower mortality risk (1). Lower exercise capacity generally correlates with more severe lung disease (2,3) and landmark studies suggest that low exercise capacity as measured by peak oxygen capacity (VO2peak) and rate of decline in lung function (FEV1) are strong predictors of mortality (1,4). However not all studies have found pulmonary function tests (PFTs) to be reliable predictors of maximal exercise capacity (5), especially in relatively well preserved lung function (6,7). The wide distribution in physical capacity between fit individuals and end stage disease adds to complexity of assessment. Independent factors of age, genetics, habitual exercise, nutritional status and musculoskeletal conditions are all known to influence physical capacity in patients with CF (8,9). Maximal exercise testing places additional stress on cardiovascular, respiratory and peripheral systems providing more information around multiple influences on disease progression including degree of limitation in these major systems (10,11) and is useful for assessment of exercise desaturation, more common (but not always present) in advanced lung disease (5,12). With prediction of exercise performance and functional capacity from PFTs unreliable and the understanding that health status correlates better with exercise tolerance there has been an increase in maximal exercise testing for patient management (13). Many international centers now regard exercise testing as highly important with many assessing maximal exercise capacity annually to monitor disease progression, identify physical status and drive changes in medical, physiotherapy or nutritional management (14,15). The main vision is to develop a standardized incremental step test protocol suitable for adults with Cystic Fibrosis (CF), all ages, levels of fitness and disease state that is in line with current exercise testing recommendations (15). To develop a more useful field test to assess exercise tolerance and a more "user friendly" test than the currently available laboratory exercise test to allow for early detection of decline in physical function in the day-to-day clinical setting. To date no studies have been published in adults with CF where an incremental exercise step test has been investigated to assess exercise tolerance or determine maximum oxygen uptake (VO2max).
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
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.
Developing a new non-invasive prenatal test for single gene disorders from cell free fetal DNA, retrieved from the mothers blood.
Collection of coded biomaterial and clinical data with patients consent for future research.
Background: - The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: - To evaluate people with certain types of immune system disorders. Eligibility: - Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design: - Researchers will review participants medical records. - Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping. - Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed. - Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm. - Researchers may recommend medicines, but no treatments are being studied. - Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.
The aim of this study is to evaluate the effects of subantimicrobial dose doxycycline (50 mg/d), administered for 12 weeks, on patients with mild Thyroid-Associated Ophthalmopathy (TAO).
Background: - People with sickle cell disease and other blood disorders sometimes get chronic leg ulcers. These are wounds that develop on the skin and don t go away. Current treatments do not work very well, so researchers want to learn more about why the ulcers happen. They want to find out which bacteria may cause it, and if external factors play a role. Objective: - To study social and environmental factors of sickle cell disease and the causes of sickle cell disease leg ulcers. Eligibility: - People age 18 and older who have sickle cell disease or another red cell disorder, with or without an active leg ulcer. Design: - Participants will have a medical history and clinical evaluation. They will also have blood drawn. - Participants will complete questionnaires about their life, health, environment, stress, and other topics. - Participants may provide a small sample of hair. - Participants will be asked to collect a small amount of saliva. - Participants with leg ulcers will have their skin microbiome sampled. The microbiome is all of the microbes (bacteria and and/or fungi) and their genes in and on the body. Researchers will use swabs to collect skin samples. Photographs will be taken of the skin sample area. - Some participants without leg ulcers also will have their skin microbiome sampled. - Some participants who have their skin microbiome sampled will return for a second visit. At this visit, their microbiome will be resampled. It will take place more than 30 days after the first visit.
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.