Active clinical trials for "Fragile X Syndrome"

Children with FXS are predisposed to manifesting a particular profile of intellectual strengths and weaknesses, including specific deficits in math, visual-spatial skills, executive functioning, and social skills. Until now, intensive behavioral interventions have not been targeted to syndrome-specific weaknesses. In the present study we will develop and evaluate behavioral strategies to aid skill acquisition in children with FXS.

This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and to collect epidemiological and health economic data. EXPLAIN will report current and comprehensive data onEpidemiology data on fragile X syndrome Characterisation of the phenotype of FXS patients Description of patient characteristics (demographics, family history, comorbidity, education, working situations, care situations, insurance status) Documentation of therapeutic interventions Recording and assessment of psychosocial parameters (possibly also inclusion of family members, carers) quality of life of the carer and if possible the patient Health economic parameters and consumption of resources

The purpose of the study is to understand how the ovarian follicle (the fluid filled structure in the ovary that contains the egg) makes estrogen and other hormones during normal aging, in women with different ethnic backgrounds, and in Fragile X premutation carriers. During reproductive aging, estradiol levels are increased, a phenomenon that may be related to increased aromatase activity. The investigators' own preliminary data suggest that estradiol is increased in African-American women compared to Caucasian women, which may also be related to aromatase activity. In addition, the investigators have examined female fragile X premutation carriers who still have regular menstrual cycles and have demonstrated evidence of early ovarian aging compared to age-matched controls. **WE ARE RECRUITING ONLY WOMEN WITH FRAGILE-X PREMUTATION**

Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET. This project will study the distribution of sigma-1 receptors in 15 young (18-30 years) male adults with FXS compared to 5 healthy adult volunteers.

The purpose of the proposed research is to study the potential changes in biomarkers of patients with neurodevelopmental disorders in response to treatment in clinical trials or in private psychiatry practice utilizing non-invasive psychophysiological measurements. The investigators plan to obtain psychophysical measurements throughout several periods of treatment.

In this study the investigators aim to identify and characterize a potential neurophysiological biomarker by mapping functional networks of brain activity (Brain Network Activation, BNA) based on analysis of evoked response potential (ERP) signals in both asymptomatic FMR1 premutation carriers and in patients with various stages of FXTAS. Additionally correlations will be studied between these BNA scores and demographics (gender, age and disease duration) as well as genetic mutation and clinical scores.

The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome. Computational analysis of multi-dimensional datasets will be used to establish a "Diagnostic and Therapeutic Index" - an objective set of tools that can help differentiate subtypes of Autism Spectrum Disorder and develop more accurate methods of diagnosis and response to treatment.

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.

The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.