Laboratory Characteristics in Chronic Atrophic Acrodermatitis
Chronic Atrophic AcrodermatitisThe main objective of this study is to characterize the inflammatory proteins, gene polymorphisms, and transcriptome profiles in patients with chronic atrophic dermatitis to gain better insight into pathogenesis of chronic infection with Borrelia burgdorferi sensu lato.
Muscle Atrophy in Sepsis
AtrophySepsis1 moreSevere sepsis will provoke signals leading to muscle atrophy and weakness. Electrical stimulation will reduce the impact of sepsis.
Multi-disease Carrier Screening Test Validation
Spinal Muscular Atrophy (SMA)Carrier Screening1 moreThe purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.
Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With...
Infantile-onset Spinal Muscular AtrophyTo provide access to nusinersen to eligible patients with Infantile-onset Spinal Muscular Atrophy (SMA) (consistent with Type 1) to address a high-unmet medical need.
EAP_GS010_single Patient
Leber Hereditary Optic Neuropathy (OpticAtrophy2 moreExpanded Access Use for a single patient of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected with G11778A ND4 Leber Hereditary Optic Neuropathy
An Expanded Access Program for Risdiplam in Participants With Spinal Muscular Atrophy (SMA)
Muscular AtrophySpinalThis expanded access program (EAP) will provide access to risdiplam for eligible participants with Type 1 or Type 2 spinal muscular atrophy (SMA) before it is commercially available in the United States for the indication of SMA.
Expanded Access Protocol of Verdiperstat in Patients With Multiple System Atrophy (MSA)
Multiple System Atrophy (MSA)The purpose of this expanded access program is to provide access to the investigational drug verdiperstat in patients with Multiple System Atrophy (MSA). Expanded access allows patients with a serious or a life-threatening disease or condition access to an investigational drug when no satisfactory approved treatment options are available.
AveXis Managed Access Program Cohort for Access to AVXS-101
Spinal Muscular AtrophyThe purpose of this Cohort Treatment Protocol will allow access to AVXS-101 for eligible patients diagnosed with SMA.
Difference of Gastric Microbiota in the Process of Correa's Model.
Gastric MicrobiotaNon-atrophic Gastritis5 moreHelicobater pylori plays an important role in the development of gastric cancer. Eradication therapy can reducing the morbidity of gastric cancer, but can't totally prevent it especially when atrophy and more serious precancerous lesions already happened. Prior studies found the gastric bacterial difference among gastritis, intestinal metaplasia and gastric cancer. However, they didn't reach an agreement. Correa's model is widely accepted in the development of gastric cancer. The pathological change makes a more suitable environment for bacteria to overgrowth. This study are designed to analyze the gastric microbial difference of non-atrophic gastritis, atrophic gastritis, intestinal metaplasia, intraepithelial neoplasia and gastric cancer.
National Registry for Egyptian Pediatric Neuromuscular Diseases
Spinal Muscular AtrophyMuscular Dystrophy3 moreOur aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.