Active clinical trials for "Genetic Diseases, X-Linked"

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

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

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: <TAB> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? <TAB> Do patients with SLOS have other problems concerning the function of their endocrine systems? <TAB>What are the genetic make-ups of patients with SLOS? <TAB>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?<TAB>

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS.

This study will study the effects of the gene on the X chromosome that is associated with X-linked lymphoproliferative disease (XLPD)-an inherited disease affecting the immune system-on the function of the immune system. XLPD has been linked to an abnormality in a specific region of the X chromosome (one of 23 chromosome pairs that contain the genes that determine a person's hereditary makeup). The disease may develop after infection with the Epstein-Barr virus (EBV). EBV affects more than 95 percent of people in the United States. It usually does not cause any symptoms in children. In adolescents and adults, however, EBV can cause infectious mononucleosis and sometimes lymphoproliferative disease, such as XLPD. In these diseases lymph tissues, such as lymph nodes, may become enlarged and immune function (infection-fighting ability) impaired. This study will compare DNA from patients with XLPD with that of their unaffected relatives, of patients with other lymphoproliferative diseases and of normal controls. Patients of any age with XLPD, their unaffected relatives 18 years of age and older, and patients with other lymphoproliferative diseases may participate in this study. Blood samples will be collected from all participants to study the effects of the gene on the X chromosome that appears to be abnormal in XLPD on the function of the immune system. In a 6-week period, no more than 100 milliliters (about 7 tablespoons) of blood will be drawn from adults and no more than 1 ml (1/6 teaspoon) of blood per pound of body weight from children. Blood from patients with XLPD and their relatives will also be tested for HLA type (similar to blood type testing) and the ability of HLA-matched cells from patients and relatives to interact will be examined. ...

In this study, Investigators will conduct a prospective cohort study of dialysis patients by collecting research-quality information on patient characteristics, comorbid diseases and laboratory markers used in routine practice, as well as novel biochemical markers and genetic data. Investigators will utilize data from the cohort to test the independent relationship between biochemical and genetic markers and Fabry disease and other rare diseases.

This study will examine: 1) The impact of psycho education group therapy sessions relating to beliefs/myths associated with bipolar affective disorder (BAD) on the emotional wellbeing, clinical course and cognition of individuals diagnosed with BAD 2) Will examine the existence of those same beliefs among the various caregivers - psychiatrists, general practitioners, social workers, and psychiatric nurses. The investigators hypothesize that psychoeducation group therapy will be effective in refuting the myths and will lead to better treatment adherence, longer remissions, fewer hospitalizations, improved self esteem, increased optimism, and better control over the disease process. The investigators also believe that they will identify some beliefs/myths or preconceived notions that are common to both caregivers and individuals with BAD.

The objective of this study is to determine whether the practice of a non-drug related intervention technique (behavioral modification technique consisting of a combination of breathing exercises, cold exposure and meditation) has an effect on long-term cannabinoid receptor function in a control group as well as in a group of patients suffering from bipolar affective disorder (BAD). Specifically, the objective of this study is to test whether the applied behavioral modification technique is able to alter cannabinoid receptor density in brain areas that modulate mood and motivational drive (such as vmPFC, PAG, VTA, amygdala and OFC). The investigators believe that these studies will form the impetus for a better understanding and deployment of non-drug related treatment methods in patients with various depressive symptoms. In particular, it appears that the proposed behavioral modification technique might be a powerful, currently under-appreciated, method to positively modulate the brain's own cannabinoid system.

Background: - Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food or in supplements, for their bodies to work properly. Cholesterol is very important for the brain and nervous system. Therefore SLOS is highly related to autism, mental retardation, and other brain and nervous system disorders. Not much is known about how people with SLOS handle cholesterol and how taking extra cholesterol helps them. A long-term study of people with SLOS will help answer these and other questions. Objectives: - To study the effects of a high-cholesterol diet on people with Smith-Lemli-Opitz syndrome. Eligibility: - Individuals of any age who have Smith-Lemli-Opitz syndrome. Design: Participants will have study visits up to two times in the first year and once a year every year after that. Each visit will last between 3 and 5 days. Participants will be screened with a physical exam, medical history, and blood and urine tests. Participants will provide regular blood, urine, stool, saliva, and skin cell samples for testing. Participants will keep track of the foods they eat at home. During the study, they will eat a high-cholesterol diet at all times, except for the second study visit (3 to 6 months after the screening visit). That visit will involve a cholesterol-free diet for 4 weeks. Participants will have special cholesterol tests with blood samples at different times during the study. At different study visits, participants will have tests of mental and physical skills (including tests for autism). They will answer questions about their diet and food habits. They will also have hearing and eye tests, body and bone measurements, and imaging studies. Not all of the tests will be done at every study. Participants will be allowed to leave the study at any time.

X-linked dystonia-parkinsonism (XDP) is a rare, X-linked, adult-onset, and progressive movement disorder seen almost exclusively in men from Panay Island in the Philippines. The disease is associated with mutations involving the DYT3/TAF1 gene, and all the cases described so far have been linked to Filipino ancestry. Although XDP is very rare globally, the prevalence is 5.74 per 100,000 individuals in Panay Island and 0.31 per 100,000 in the Philippines as a whole. Majority of patients (95%) were males, and the mean age of onset was 39 years. The mean duration of illness was 16 years, and the mean age of death was 55.6 years.