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Active clinical trials for "Genetic Diseases, Inborn"

Results 81-90 of 266

Genetic Disorders of Obesity Program Database

ObesityChildhood1 more

This study collects data on children with severe, early-onset obesity.

Recruiting3 enrollment criteria

The China Neonatal Genomes Project

NewbornHereditary Disease3 more

The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.

Recruiting11 enrollment criteria

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

Nonimmune Fetal HydropsNonimmune Hydrops in Neonate1 more

Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments. Numerous etiologies may lead to NIHF, and the underlying cause often remains unclear (1). The current standard of genetic diagnostic testing includes a fetal karyotype and chromosomal microarray (CMA), with an option to pursue single gene testing on amniocytes collected by amniocentesis (2). A large subgroup of the NIHF causes includes single gene disorders that are not diagnosed with the standard genetic workup for hydrops. Currently, nearly 1 in 5 cases of NIHF is defined as idiopathic, meaning there is no identified etiology (2). The investigators believe this is because the causes of NIHF are not completely investigated, specifically single gene disorders. Our research study aims to increase the diagnostic yield by performing whole exome sequencing (WES) and whole genome sequencing (WGS) on prenatal and neonatal NIHF cases when standard genetic testing is negative, identifying known and new genes, thus providing vital information to families regarding the specific diagnosis and risk to future pregnancies. The investigators plan to perform WES as the initial diagnostic test. If WES is negative, then the investigators will proceed to perform WGS.

Recruiting16 enrollment criteria

Pediatric Patients With Metabolic or Other Genetic Disorders

Genetic DisorderAsperger Disorder3 more

Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research. Objectives: To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients. Eligibility: Children any age with a known or suspected genetic disorder. Design: Participants will be screened with medical history and physical exam. They may have lab and other tests. Family members may give DNA samples. Participants will have: Medical history Physical exam Height, weight, and other measurements taken. A clinical evaluation of their disorder. They may have: Blood, urine, and saliva samples taken Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey. A sleep study A visit with other specialists at NIH A genetic test from a commercial lab Medical photographs taken Other tests Participants may have follow-up visits. They may get medical or surgical treatment.

Recruiting6 enrollment criteria

UW Undiagnosed Genetic Diseases Program

Rare DiseasesGenetic Disease1 more

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.

Recruiting10 enrollment criteria

Follow-up With Preimplantation Genetic Testing Patients

InfertilityGenetic Disease1 more

The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation genetic testing (PGT). Patients indicating willingness to participate in research during informed consent to perform PGT will be eligible for inclusion. A licensed genetic counselor will conduct a recorded interview.

Recruiting2 enrollment criteria

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders...

Genetic DiseaseInborn Errors of Metabolism3 more

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.

Recruiting5 enrollment criteria

A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF

Cystic FibrosisDigestive System Disease4 more

Development of a new patient reported outcome measure (PROM) that will measure the daily burden of gastrointestinal symptoms over the previous 24 hour period for people with cystic fibrosis.

Recruiting5 enrollment criteria

Biobank Clinical Genetics Maastricht (KG01)

Genetic Disease

Collection of coded biomaterial and clinical data with patients consent for future research.

Recruiting3 enrollment criteria

Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells...

GranulomaGranulomatous Disease6 more

The research goal of this study is to obtain CD34+ hematopoietic stem cells (HSC) from peripheral blood and/or bone marrow, and Mononuclear Cells (lymphocytes and monocytes), and granulocytes (grans) from peripheral blood that will be used in the laboratory and/or in the clinic to develop new cell therapies for patients with inherited or acquired disorders of immunity or blood cells. Development of novel cellular therapies requires access to HSC, Mononuclear Cells and/or granulocytes as the essential starting materials for the pre-clinical laboratory development of gene therapies and other engineered cell products. HSC or blood cells from healthy adult volunteers serve both as necessary experimental controls and also as surrogates for patient cells for clinical scale-up development. HSC or blood cells from patients serve both as the necessary experimental substrate for novel gene therapy and cellular engineering development for specific disorders and as pre-clinical scale up of cellular therapies. Collection of cells from adult patients collected in the NIH Department of Transfusion Medicine (DTM) under conditions conforming to accepted blood banking clinical practice may also be used directly in or cryopreserved for future use in other NIH protocols that have all required regulatory approvals allowing such use. In summary, the research goal of this protocol is the collection of HSC or blood cells that may be used for both laboratory research and/or for clinical treatment in other approved protocols.

Recruiting34 enrollment criteria
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