View clinical trials related to Genetic Diseases, X-Linked.
Filter by:The aim of this prospective, observational study is to establish a dataset on the frequency of bleeding events, as well as other characteristics of bleeding events and FVIII infusions, in patients with clinically severe hemophilia A receiving prophylactic FVIII replacement therapy as standard of care. The data collected from this study may assist in providing baseline information for comparison to the Spark's investigational hemophilia A gene therapy in future Phase 3 studies.
SPK-8016 is in development for the treatment of patients with inhibitors to FVIII. This Phase 1/2, open-label, non-randomized, dose-finding study to evaluate the safety, efficacy, and tolerability of SPK-8016 in adult males with severe hemophilia A and no measurable inhibitor against FVIII.
The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in plasma cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and plasma cholesterol and cholesterol precursor metabolites will be measured.
HOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD). Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period.
The primary objective of the clinical trial is to evaluate the data of an app for smartphones (BiP-App) with regard to sleep, movement, mood and communication behavior. The data will be compared between two groups: people with a bipolar affective disorder and individuals without a psychiatric disorder. Secondary objective of the trial is to investigate if it is possible to detect early warning symptoms of depressive / (hypo) manic episodes via the measured behavior patterns. Furthermore it will be evaluated whether the BiP-app can find applicability in the examined patient group. Study design: Clinical evaluation of a medical device without CE mark; Parallel study design
Based in an embodied approach of cognition, several studies have highlighted a direct link between perception of an object or an emotion and the associated motor responses. This study investigated in patients suffering from bipolar affective disorders whether the perception of emotional words involves an automatic sensorimotor simulation of approach and avoidance behaviors, and whether the perception of an object involves an automatic sensorimotor simulation of object prehension (affordance). We hypothesize that, in this pathology, low level (sensorimotor) cognitive processes are preserved whereas high-level (attentional) are altered. 20 patients suffering from bipolar affective disorders and 20 healthy controls will be recruited. The main objective is the emergence of sensorimotor compatibility effects in approach-avoidance task with emotional stimuli (gain between compatible vs incompatible conditions).
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.
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.