View clinical trials related to Genetic Diseases, X-Linked.
Filter by:This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and caspase recruiting domain (CARD domain) containing 4 (NLRC4) - Macrophage activation syndrome (MAS) mutation (NLRC4-MAS mutation) or X-linked inhibitor of apoptosis (XIAP) deficiency. Because of the likelihood for pathogenic IL-18 in certain monogenic diseases, patients known to harbor deleterious mutations in NLRC4-MAS or XIAP and who have a history of ongoing inflammation will be enrolled if they have ferritin ≥ 500 ng/mL or persistent C reactive protein (CRP) elevation ≥ 2 times the upper limit of normal (ULN) and the patients should have a Modified Autoinflammatory Disease Activity Index (mAIDAI) ≥ 4.
To see whether MINGO, a food supplement, will be able to lessen the drastic weight loss seen among X-linked Dystonia Parkinsonism patients.
Recommendations concerning the administration of Zostavax® in patients with antibody deficiency are unclear. The investigators plan to assess the immunogenicity and safety of Zostavax® in patients with antibody deficiency as compared with healthy volunteers.
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.
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren [PTC124-GD-020-DMD {NCT01826487}]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.
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.