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Active clinical trials for "Genetic Diseases, Inborn"

Results 221-230 of 266

An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients...

Charcot Marie Tooth Disease (CMT)Hereditary Sensory and Motor Neuropathy7 more

The purpose of this study is to identify the issues that have greatest impact on QOL for patients with Charcot Marie Tooth (CMT) Disease. Patients who have -registered in the Inherited Neuropathies Consortium Contact Registry will be invited to participate.

Completed3 enrollment criteria

Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life...

Genetic Diseases

The MENDEL-study will investigate whether the use of gene panel or whole genome sequencing (WGS) will: improve the rate of diagnosis and through this compare the performance of the two diagnostic approaches (gene panel vs. WGS), investigate whether use of said sequencing approaches early in the diagnostic process results in reduced health care spending, and result in an improved quality of life for the patients and their parents.

Completed7 enrollment criteria

Brain-Derived Neurotrophic Factor in Obesity and Brain Function

ObesityGenetic Disorder2 more

Background: - Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems. People with MC4R mutations may have problems with attention. These problems may be related to Brain-Derived Neurotrophic Factor (BDNF), a protein that is important for brain development. Researchers want to study people with PWS and MC4R mutations to see how BDNF is involved in these conditions. Specifically, body weight and brain function will be studied, and compared with healthy volunteers. Objectives: - To study how BDNF affects body weight and brain function in people with PWS and MC4R mutations. Eligibility: Individuals of any age who have Prader-Willi syndrome or MC4R genetic mutations. Healthy volunteers of any age to act as control participants. Design: Participants will be screened with a medical history and physical exam. Height, weight, and waist/hip circumferences will be measured. Blood samples will be taken for genetic and other tests. Participants will fill out questionnaires about eating habits, pain perception, and sleep behavior. Participants will keep a 3-day food diary to record all food and drinks eaten. Tests and questionnaires will be given to study thinking, speech, movement, behavior, and mood. Some tests will be done on a computer; other tests will be on paper. Tests may also involve performing tasks with blocks and other objects. Participants may have other tests as directed. These will include hot and cold sensitivity tests, imaging studies like x-rays, and measurements of body fat and water content. Treatment will not be provided as part of this study.

Completed13 enrollment criteria

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia...

Fanconi AnemiaAutosomal or Sex Linked Recessive Genetic Disease4 more

Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.

Available2 enrollment criteria

The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

Birth DefectNewborn; Fit3 more

In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.

Completed5 enrollment criteria

Studies of Children With Metabolic and Other Genetic Disorders

Genetic DisorderMetabolic Disease

This study will provide medical evaluations for patients with known or suspected metabolic and genetic disorders. It will allow NICHD investigators and trainees experience in diagnosing, managing, and treating patients with metabolic and genetic disorders who may not be eligible for an active NIH research trial. Participants in this protocol will only have tests and procedures used in the standard practice of medicine; there will be no experimental tests or treatments. Patients who are found eligible for an active research protocol will be offered participation in that study. The medical evaluations in this trial may uncover new disease processes that prompt new research initiatives. People of all ages with a suspected or diagnosed genetic or metabolic condition may be eligible for this study. In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of unknown cause may qualify. Participants will have a medical history, including a family history, with possible review of previous medical records, and a physical examination. Other procedures may include: Consultation with medical specialists. Hearing and/or vision tests. Imaging studies, such as X-rays, ultrasound and magnetic resonance imaging (MRI). Blood drawing Blood samples (2 to 4 tablespoons from adults and 1 to 2 tablespoons from children) may be used for routine lab tests, genetic study, and other research purposes. Cheek swab DNA may be obtained by a cheek swab. A small brush is rubbed against the inside of the cheek to collect some cells. Skin biopsy Under local anesthetic, a small circle of skin (about 1/8-inch) is removed with a sharp cutting instrument similar to a cookie cutter. Muscle biopsy Under local anesthetic, a small piece of muscle tissue is removed to aid in diagnosis. Participants will undergo only diagnostic procedures that are clinically indicated; that is, only tests needed to confirm or rule out a diagnosis will be done. Tissue samples collected for diagnostic purposes may also be used to obtain DNA for genetic studies and to establish cell lines (cells grown in the laboratory to be maintained indefinitely) for future research. The results of the medical evaluation may indicate whether or not the participant has the disease that runs in the family (if a genetic disorder is indeed confirmed). Unless he or she requests otherwise, the subject (and parent in the case of a minor) will receive counseling regarding the test results. The implications of a positive test result will be explained, specifically, the participant s risk of having the disease, and the risk of passing the condition on to offspring.

Completed5 enrollment criteria

Microarray Analysis for Human Genetic Disease

Breast NeoplasmHereditary Neoplastic Syndrome2 more

This study will look at genetic changes which occur in the development of male and female breast cancer and other cancer. It will use a new technology called DNA microarray hybridization that looks at a wide array of genes to identify disease-associated patterns in the human genome (complete set of human genes). Numerous studies have linked particular genes to a given disease, but there is very little information on patterns of gene expression (production of proteins from genetic coding) in the entire human genome. Pinpointing genetic abnormalities in disease may help classify different forms of cancer and perhaps lead to new avenues of treatment or prevention. A primary goal of this study will be to create a database of gene expression for human cancers and other disorders that will provide the basis for finding genetic abnormalities in disease. Tumors specimens used in this study will be taken from tissues biopsied from patients with breast, colon cancer, sarcomas or melanoma as part of their routine care. Patients in the study will be among those receiving care at the: Department of Oncology, University Hospital, University of Lund, Sweden (breast cancer); Department of Medicine, University of Michigan, Ann Arbor, Michigan (breast cancer); Surgery Branch, National Cancer Institute, Bethesda, Maryland (melanoma), Johns Hopkins Univ. (colon cancer), Memorial Sloan Kettering (sarcoma). Patients in the study will have a family history taken and will complete a questionnaire. Some patients will be asked to have a blood test. Breast cancer patients will have a mammogram if one has not been done within the last year.

Completed1 enrollment criteria

Inherited Risk Evaluation Tool (InheRET): Identifying Patients at Increased Risk for Hereditary...

Hereditary Cancer-Predisposing Syndrome

This study will evaluate the impact InheRET™, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network(NCCN) guideline compliant referrals for cancer genetic counseling/genetic evaluation by decreasing and/or removing the barriers of 1) time-consuming in-clinic 3-generation family history collection, and 2) interpretation of the family and personal history in light of current NCCN guidelines. Identifying individuals at increased risk for cancer has been shown to decrease morbidity and mortality in multiple clinical settings. Investigators hypothesize that InheRET will prove to be accurate, efficient, and accessible, and that its use will improve identification of individuals at risk for inherited susceptibility to cancer. The investigators propose also that using this tool will result in a reduction of inappropriate genetic counseling referrals and reduce unnecessary genetic testing in both primary and specialty care settings. InheRET will allow health care providers to focus resources on individuals at higher risk for developing cancer.

Unknown status3 enrollment criteria

Prevalence of Carriers of Genetic Diseases in the Mexican Jewish Community

Genetic PredispositionCarrier1 more

The Jewish Population is at an increased risk for genetic diseases, especially autosomal recessive, thus, screening should be done to determine carrier status of several genetic diseases. In the Mexican Jewish Community, which is a very diverse community (regarding geographical origins), data of carrier status is unknown. The study aims to determine carrier prevalence for over 300 diseases using commercially available panels.

Completed3 enrollment criteria

Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic...

Kabuki Syndrome 1

Starting from isolating primary cells from affected patients, an in vitro disease model system for KS will be developed. Using alternative strategies to obtain patient-derived mesenchymal stem cells, an integrative approach will be adopted for defining both the transcriptional and epigenetic regulatory networks perturbed upon the loss of function of KMT2D. Combining the self-renewal potential of mesenchymal stem cells (MSCs) with CRISPR/Cas9 technology, an epigenome editing approach as therapeutic strategy to rescue the activity of MLL4 will be developed. A step forward is expected towards the understanding of those the molecular mechanisms governing the aetiology of Kabuki Syndrome (KS) and that the proposed in vitro disease model will provide to the scientific community an experimental system to study the KS. Importantly, the aim is to define the molecular bases of KS and to develop a therapeutic strategy that could ameliorate some of the abnormalities associated with KS.

Completed8 enrollment criteria
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