View clinical trials related to Genetic Diseases, X-Linked.
Filter by:This pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive too, using a broad spectrum light source and wavelength-specific bandpass filters. The investigators will then evaluate the electrophysiologic response in healthy humans to IR, followed by studies in those with specific retinal diseases. The long-term goal of this research is to better understand the role that IR plays in visual function, and whether this can be manipulated to allow for vision in certain retinal pathologies that result from loss of photoreceptor cells. The investigators central objective is to test the electrophysiologic response to IR in the dark-adapted retinal and visual pathways. The investigators central hypothesis is that IR evokes a visual response in humans after dark adaptation, and the characteristics of this response suggest transient receptor potential (TRP) channel involvement. The investigators rationale is that a better understanding of how IR impacts vision may allow for an alternative mechanism for vision in a number of diseases that cause blindness from the degradation or loss of function of photoreceptor cells. The investigators will test the investigators hypothesis with the following Aims: Aim 1: To determine the optimal IR wavelength for visual perception in dark-adapted human participants. The investigators hypothesize that the healthy human eye will detect IR irradiation, with a maximum sensitivity at a specific wavelength. Using a broad-spectrum light source with wavelength-specific bandpass filters, the spectral range of visual perception to IR will be evaluated. The same will be done on colorblind participants. Aim 2: To test the electrophysiologic response to IR in healthy humans after dark adaptation. The investigators hypothesize that IR will elicit an amplitude change on electroretinography (ERG) and visual evoked potential (VEP) responses after dark adaptation in healthy human participants. Participants will be tested with both test modalities to evaluate their response to IR. Aim 3: To test the electrophysiologic response to IR after dark adaptation in humans with certain retinal diseases. Participants with retinitis pigmentosa, age related macular degeneration and congenital stationary night blindness, will be tested. Results will be compared to baselines and to those of healthy participants. The investigators hypothesize that there will be a response to IR on ERG and VEP, which will provide clues to the retinal cell layer location of the response to IR and the nature of potential TRP channel involvement.
Prevalence of somatic comorbidities in psychiatric patients hospitalized in Psychiatric hospital or treated ambulatory or in daily hospital. Comparison of prevalence of somatic comorbidities in psychiatric patients population and the general Croatian population.
The investigators programme of research will evaluate an existing physical health care screening intervention with the aim of helping Community Psychiatric Nurses (CPN) to improve the physical health wellbeing of people with a SMI. This pilot clustered randomised controlled trial aims to establish the potential efficacy and acceptability of the Chinese Health Improvement Profile (CHIP) in improving the physical health of people with severe mental illness.
In this proposal, the investigators will focus on subcortical gray and white matter structures commonly found to be abnormal in schizophrenia. Thus, the investigators will evaluate the volume and shape of the hippocampus, thalamus and basal ganglia, as well as measures of structural integrity of the corpus callosum and its various subregions.
The primary objective is to demonstrate the bioequivalence of Gammaplex® 10 intravenous immunoglobulin (IGIV) and Gammaplex® 5% IGIV with respect to area under the curve within a 28-day dosing interval (AUC0-28) in a cohort of adult subjects. The secondary objectives are to demonstrate the bioequivalence of Gammaplex® 10 IGIV and Gammaplex® 5% IGIV with respect to area under the curve within a 21-day dosing interval (AUC0-21) in adult subjects; to assess the pharmacokinetics of Gammaplex 10 IGIV and Gammaplex 5% IGIV including Immunoglobulin G (IgG) trough levels and to investigate the safety and tolerability of Gammaplex 10 IGIV and Gammaplex 5% IGIV in adults subjects; to assess the pharmacokinetics of Gammaplex 10 IGIV including IgG trough levels and to investigate the safety and tolerability of Gammaplex 10 IGIV in pediatric subjects.
The main objective of the study is to determine the pharmacokinetics profile of Subgam-VF. The secondary objectives are to assess the safety of Subgam-VF and refine the dose adjustment coefficient for Subgam-VF needed for subjects switching from prior intravenous immunoglobulin (IGIV) therapy.
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.
In this trial, researchers aim to investigate if prolonged-release melatonin can facilitate the withdrawal of chronic benzodiazepine administration in patients with schizophrenia. Furthermore, researchers will investigate the association of benzodiazepine dose reduction with the following clinically important variables: sleep, psychophysiology, cognition, social function, and quality of life.
The aim of this study is to determine whether blood levels of lithium or sertraline are affected by different phases of the menstrual cycle and whether there is an effect on psychiatric symptoms. Subjects are seen for two visits: one visit during the luteal phase and one visit during the follicular phase of the menstrual cycle. On each visit, they will fill out a depression, anxiety and mania rating scale. Also at each visit a 20mL blood sample will be drawn to measure progesterone level and either a lithium or sertraline level, depending on which medication the patient takes. The primary hypothesis in this study is that blood levels of lithium and sertraline will be significantly lower in women during the luteal phase of the menstrual cycle than during the follicular phase. Examination will also be made of whether symptoms will increase in severity during the luteal phase as compared to the follicular phase. The investigators expect a negative linear association between symptom severity and blood level, i.e. expect symptom severity to worsen as blood levels of lithium or sertraline decrease.
There is a need to develop a better understanding of the early phase of bipolar disorder, and to develop and evaluate effective psychosocial interventions that assist people in this phase. The purpose of this study is to determine whether or not it is feasible to conduct a larger study of the effectiveness of cognitive interpersonal therapy (a psychological therapy) with individuals who have experienced their first or second treated episode of mania or hypomania (symptoms common in early development of bipolar disorders).