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Active clinical trials for "Genetic Diseases, Inborn"

Results 191-200 of 266

Implementing Digital Health in a Learning Health System

Cardiovascular DiseasesHypertension4 more

The need for new models of integrated care that can improve the efficiency of healthcare and reduce the costs are key priorities for health systems across the United States. Treatment costs for patients with at least one chronic medical or cardiovascular condition make up over 4-trillion dollars in spending on healthcare, with estimations of a population prevalence of 100-million affected individuals within the next decade. Therefore, the management of chronic conditions requires innovative and new implementation methods that improve outcomes, reduce costs, and increase healthcare efficiencies. Digital health, the use of mobile computing and communication technologies as an integral new models of care is seen as one potential solution. Despite the potential applications, there is limited data to support that new technologies improve healthcare outcomes. To do so requires; 1) robust methods to determine the impact of new technologies on healthcare outcomes and costs; and 2) evaluative mechanisms for how new devices are integrated into patient care. In this regard, the proposed clinical trial aims to advance the investigator's knowledge and to demonstrate the pragmatic utilization of new technologies within a learning healthcare system providing services to high-risk patient populations.

Unknown status2 enrollment criteria

Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)...

Genetic DisorderNoonan Syndrome

The purpose of this study is to collect information about safety and effectiveness for long term use of Norditropin®. Participants will attend the medical institution according to usual practice and receive medical care, as agreed with the study doctor.

Completed8 enrollment criteria

Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner...

Growth Hormone DisorderGrowth Hormone Deficiency in Children2 more

This study is conducted in Japan. The aim of this study is to collect information about the efficacy and safety of Norditropin® (somatropin) in the long-term treatment of short stature with GHD (Growth Hormone Deficiency) where epiphysial discs are not closed and short stature with Turner Syndrome where epiphysial discs are not closed.

Completed5 enrollment criteria

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis

Genetic Diseases

The main objective of the multi-centered collaborative study is to evaluate the accuracy, efficacy and clinical advantages of prenatal diagnosis using microarray analysis as compared with conventional karyotyping.

Completed8 enrollment criteria

Study of Clinical and Molecular Manifestations of Genetic Disorders

Hereditary Diseases

This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders. It will also try to locate the abnormal genes responsible for these conditions and eventually develop tests to predict who is likely to be affected and to what degree. Patients with known or suspected genetic disorders in certain categories, such as those involving chromosomal or metabolic abnormalities, immune system or blood disorders, abnormal growth, benign tumors, and others may be eligible for this study. Participants will be interviewed by specialists in genetics about their condition and family history. They may also be asked to have a physical examination and certain tests needed for study of the specific individual's condition. These may include collection of blood samples (up to 3 tablespoons); imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), ultrasound and echocardiography; skin biopsy (removal of a small sample of skin tissue under local anesthetic), and other procedures. DNA testing may reveal the genetic abnormality responsible for the disorder. Participants who so wish will have an opportunity to talk with experts about the health implications of the test results. This study may provide information that will lead to improved treatment or management of these inherited disorders, as well as more effective genetic counseling for families.

Completed7 enrollment criteria

Special Survey for Long Term Application

Genetic DisorderAchondroplasia

This study is conducted in Japan. The aim of this study is to assess the incidence rate of adverse drug reactions (ADRs) when using somatropin (Norditropin®) for treatment of for achondroplasia without epiphyseal line closure under normal clinical practice conditions.

Completed1 enrollment criteria

Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy...

Leber Congenital Amaurosis (LCA)Eye Diseases3 more

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.

Completed2 enrollment criteria

Whole Genome Sequencing in the Neonatal Intensive Care Unit

Genetic DiseasesInborn

This research is being done to see if whole genome sequencing (WGS) improves the diagnosis of patients in the NICU. Using WGS in this way, which is relatively new, researchers at Penn State College of Medicine will look at approximately 5000 genes that are known to be associated with genetic diseases to see if the neonatal patient has a known disease causing mutation. Comparing the parents' DNA with the child's will help the investigators better understand the child's DNA.

Completed16 enrollment criteria

A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin...

Genetic DisorderAchondroplasia

This study is conducted in Japan. The aim of the study is to evaluate the efficacy of somatropin (Norditropin®) on adult height (cm) in patients with achondroplasia / hypochondroplasia enrolled in the GH-1941 study (NCT01516229).

Completed1 enrollment criteria

Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic...

Genetic Disorders

The hypothesis to be tested: After the construction of a database of anthropometric measurements, the system would extract important features of a given facial surface and be able to match it with existing morphometric figures. A given combination of normal and abnormal measurements will open a "probable diagnosis" and a list of "differential diagnosis" that will be expressed as percent of matching in a descendent order to the examiner.

Completed2 enrollment criteria
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