A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed...
Spinal Muscular AtrophyThe primary objective of the study is to examine the efficacy of multiple doses of Nusinersen administered intrathecally in preventing or delaying the need for respiratory intervention or death in infants with genetically diagnosed and presymptomatic spinal muscular atrophy (SMA). Secondary objectives of this study are to examine the effects of Nusinersen in infants with genetically diagnosed and presymptomatic SMA.
Role of Metformin on Muscle Health of Older Adults
Muscle AtrophyInsulin ResistanceMuscle atrophy and insulin resistance are common after bed rest in healthy older adults. Metformin treatment has been shown to improve insulin sensitivity and attenuate muscle loss in insulin resistance adults though the mechanisms are not fully known. Metformin used as a preventive strategy to maintain muscle and metabolic health in bed ridden older adults has not been investigated.
Surveillance of Patients With Precancerous Lesions of the Stomach
Gastric CancerGastric Intestinal Metaplasia2 moreThe project will aim to identify and determine subgroups of patients with different risks of progression to gastric cancer and to assess appropriate follow-up intervals. Implementing risk stratification only high risk individuals will be offered and performed endoscopic surveillance.
C-Protein in Fatigue and Aging
AgingMuscle Atrophy or Weakness2 moreThis study is investigating changes to the proteins in skeletal muscle that contribute to reduced muscle size and muscle function that occurs with aging.
Carboxytherapy in the Treatment of Atrophic Scars
Atrophic ScarTo evaluate the efficacy of CO2 versus fractional CO2 laser versus platelet rich plasma in treatment of atrophic scars using clinical assessment and ultrasonography
Genital Laser Treatment in Postmenopausal Patients
DyspareuniaMenopause2 moreRegulation of sexual functions without hormonal support in order to correct the sexual dysfunctions in women with the estrogen hormone lost in the menopausal process. Recently, the reaction to hormonal treatments and the fact that patients with a family history of breast cancer or gynecological cancer cannot receive hormonal treatment have been the reason for applying to alternative treatments. Lubricant treatments are among the treatments that patients have compliance problems in the long term and avoid due to the difficulty of application. Correcting female sexual dysfunctions and post-menopausal women's right to want to feel sexually healthy are the most natural rights. Because sexual dysfunctions cause physiological and psychological problems in women. Thanks to the laser treatment, it is aimed to eliminate the atrophy and sexual dysfunctions of women, thanks to the application of approximately 2 sessions without the need for long-term medication.
Investigating Geographic Atrophy Insights (i-GAIN) Natural History Study
Dry Age-related Macular DegenerationGeographic Atrophy5 moreAn observational study to evaluate different biomarkers of subjects with geographic atrophy secondary to age-related macular degeneration
Risdiplam in Patients With Spinal Muscular Atrophy Previously Treated With Nusinersen
Spinal Muscular AtrophyRisdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment. The schedule of assessments (SOAs) carry over seamlessly for the cohort from studies done while treated with nusinersen and continue to track the most informative outcomes from that trial (e.g. nine hole peg test and grip strength), while adding the Box and Block Test (BBT) as an additional measure of upper limb endurance and function.
Virtual Reality for the Mitigation of Anxiety During Intrathecal Administration in Participants...
Spinal Muscular Atrophy (SMA)The primary objective of the study is to evaluate anxiety level during intrathecal administration (IT) under standard of care (SOC) and virtual reality (VR) conditions using a reliable self-rating scale.
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Spinal Muscular AtrophyCharcot-Marie-Tooth Disease6 moreThe goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.