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Active clinical trials for "Fragile X Syndrome"

Results 81-89 of 89

Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001

Fragile X Syndrome

The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and placebo to determine if they correlate with effectiveness of treatment or susceptibility to treatment with STX209. These same subjects will also be asked to contribute a blood sample for DNA (deoxyribonucleic acid) collection. The investigators will study the DNA to determine if STX209 works better in people with specific gene variations, or to find new gene variations that predict how well STX209 works.

Completed2 enrollment criteria

EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways...

Fragile-X Syndrome

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

Terminated3 enrollment criteria

Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women

HealthyFragile X Syndrome

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**

Unknown status25 enrollment criteria

Novel Clinical Target in Fragile X Syndrome

Fragile X Syndrome (FXS)

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.

Withdrawn31 enrollment criteria

Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment

Autism Spectrum DisordersPsychosis1 more

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.

Completed4 enrollment criteria

Brain Network Activation and Gait and Posture in FXTAS

Fragile X Associated Tremor-ataxia SyndromeFXTAS

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.

Unknown status6 enrollment criteria

Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X...

Autism Spectrum DisorderFra(X) Syndrome

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.

Unknown status4 enrollment criteria

A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism

AutismAutism Spectrum Disorder17 more

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

Unknown status12 enrollment criteria

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Fragile X Syndrome

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.

Unknown status8 enrollment criteria
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