Active clinical trials for "Genetic Diseases, Inborn"

This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.

This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

The purpose of this study is to evaluate the safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.

This trial is conducted in Asia. The aim of the trial is to investigate the long-term efficacy and safety of two doses of NN-220 (somatropin) in short stature due to Noonan syndrome.

Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.

The purpose of this study is to evaluate the safety and efficacy of mipomersen (ISIS 301012) in subjects with homozygous familial hypercholesterolemia on lipid-lowering therapy. This study consisted of a 26-week treatment period and a 24-week post-treatment follow-up period. Following treatment and Week 28 evaluations, participants could elect to enroll in an open-label extension study (301012-CS6; NCT00694109). Participants who were not eligible or elected not to enroll in the open-label extension study or who discontinued during the 28-week treatment period were followed in this study for 24 weeks from administration of the last dose of study drug.

This study is conducted in Europe. The aim of this study is to compare the easiness of use of Norditropin NordiFlex® device to the device previously used by patients or parents.

This trial is conducted in United States of America (USA). The aim of this trial is to examine the bioequivalence of Norditropin® versus Genotropin® in healthy adult volunteers.

A low level of plasma high-density lipoprotein (HDL) cholesterol, "the good cholesterol", is the most common lipid abnormality observed in patients with a premature atherosclerotic cardiovascular disease. HDL carry excess cholesterol from peripheral tissues to the liver to be metabolized or excreted, a process known as reverse cholesterol transport. Epidemiological studies have shown an inverse correlation between plasma levels of HDL cholesterol and the risk of cardiovascular disease. An increase in plasma HDL cholesterol levels by 1 mg/dL may reduce the risk of cardiovascular disease by 2 to 3%. The standard care of treatment for a low level of HDL cholesterol is: 1) lifestyle modifications including exercise, smoking cessation, weight control, moderate alcohol intake and decreased dietary fat intake - all patients are encouraged to follow these lifestyle modifications; 2) medications which can raise HDL cholesterol. Currently used medications to treat lipid disorders can increase, in some extent, HDL cholesterol. These include niacin (vitamin B3), fibric acid derivatives (fibrates) and statins. However there is no data on the effect of these medications on severe cases of HDL deficiency. This project aims to determine whether currently available medications, used in standard medical practice for the treatment of lipoprotein disorders, can substantially increase HDL cholesterol in severe cases of HDL deficiencies.

The overall purpose of this proposed study is to improve management of vaso-occlusive episodes (VOEs) in adult EDs. We aim to implement NHLBI recommendations for VOE treatment by embedding Individualized Pain Plans (IPPs) in the electronic health record (EHR). The EHR-embedded IPP will serve as a record of patients' SCD genotype and will include analgesic medication recommendations developed by the SCD provider. In this project, we will provide access to the IPP for both adult patients with SCD and ED providers. The proposed multisite study will use a pre-post study design, with a core set of mandatory intervention components and strategies for each participating site and optional components and strategies to allow for intervention adaptation to local needs and resources. The EHR-embedded IPP will be available for all adult ED providers to use as their routine practice, and patients will be invited to participate and enroll in the study. We will use a simplified Technology Acceptance Model to explain the use of the IPP and the RE-AIM framework to assess the Reach, Effectiveness, Adoption, Implementation, and Maintenance of the intervention.