Current Research Studies - Randi Hagerman, Ph.D.

Genotype-Phenotype Relationships in Fragile X Families

We are conducting medical and psychological assessments for immediate family members of persons with Fragile X Syndrome. The study focuses on identifying areas of specific deficits.  Cognitive and neuropsychological testing, autism assessments, medical exams, and blood draws will be completed over a 2-3 day period.  Participants with Typical Development or Fragile X premutations. Subjects are 8-100 years of age.

Characterization and Treatment of CNS Abnormalities in Premutation Carriers

This study hopes to find new ways to accurately measure brain changes in some carriers of the fragile X gene and how treatment with memantine impacts the fragile X-associated tremor/ataxia syndrome (FXTAS) related changes.  The protocol takes approximately 2-3 days to complete and involves a medical history and exam, blood draw, neurological exam, psychiatric exam, cognitive testing, videotape protocol, balance and tremor scale, psychophysiology, ERP, nerve conduction study, and MRI. There is a yearly abbreviated follow-up protocol for participants who have FXTAS.  180 people who are premutation carriers with FXTAS symptoms and 120 individuals who are 55 years and over and typically developing.

A Randomized, Double-Blind, Placebo-Controlled, Pharmacokinetic, Safety & Tolerability, & Exploratory Efficacy & Pharmacodynamic Effects Study of RO4917523 in Adults with Fragile X Syndrome

The goal of this study is to evaluate tolerability, safety and pharmacokinetics of multiple ascending doses of RO4917523 (an mGluR5 antagonist) in adult patients with a primary diagnosis of Fragile X syndrome and to evaluate the efficacy of RO4917523 (an mGluR5 antagonist) in the treatment of FXS.  The study itself requires a total of 8 visits to the UC Davis MIND Institute and 2 phone calls. There is a screening visit where we will go over the consent form and do some further evaluations to see if the patient is eligible to participate. If the patient is eligible after the screening visit, we will begin scheduling the baseline visit, treatment Day 1, and the rest of weekly visits, and the final follow up appointment to the MIND. Overall, the study will require physical exams and medication reviews, blood and urine testing, electrocardiograms (ECGs), as well as cognitive tests and behavioral questionnaires. Visits 3, 6, and 7 will require having an IV catheter put in to take samples at 2 hours, 4 hours and 8 hours after the patient takes a dose of the medication. These visits will take most of the day. The length of the study may vary from 10 to 13 weeks depending on what works best for the patient's schedule.  Adult males and females 18-50 years of age with Fragile X Syndrome, IQ < 75, BMI < 35.

An Open Resource for Autism iPSCs and Their Derivatives

The overall purpose of this project is to overcome a critical barrier in the field of autism research, namely, the accessibility of sufficient numbers of patient-derived tissues. Our strategy is to obtain tissue samples from specific autism and control patients, derive stem cells from the samples, and provide the stem cells for study to specific autism researchers.  Participants will come to the MIND for two research clinic visits. The visits may include a medical history and exam, skin biopsy, and blood draw. Those enrolled into the study may also be asked to participate in assessments such as an ADOS, ADI-R, and abbreviated IQ.  Male participants 12 years and older who are either typically developing or those diagnosed with Autism and/or Fragile X Syndrome.

Comparative Outcomes: Effectiveness of Digital & Synthetic Augmentative Alternative Communication Devices for Children Who Are Non-speaking with Neuro-Developmental Disabilities

The specific aim is to conduct a device trial to investigate and compare the effects of two comparable Augmentative Alternative Communication (AAC) technologies, ChatBox40 and ALT-Chat, on selected language, learning, cognitive, and neurotrophic markers for a group of children with neurodevelopmental disabilities, ages 5-12, from three states: Colorado, New York and California.  The study consists of 34 visits. Consent & eligibility screening will take place during visit 1. During visit 2, the individual may participate in randomization and baseline assessments, followed by approximately 30 weeks of device speech therapy. Midway through the study, fidelity checks will be administered and the study concludes at visit 34 with post-test assessments.  Children age 5-12 with Fragile X Syndrome or Down Syndrome.

AFQ14: Targeted Treatment of an mGluR5 Antagonist for Adolescents with Fragile X Syndrome

The goal of this study is to evaluate the safety and efficacy of 3 doses of AFQ056, an mGluR5 antagonist used to treat problematic behaviors such as impulsivity, anxiety, and mood volatility in adolescents 12 to 17 years of age with fragile X syndrome.  The study requires a total of 8 visits to the UC Davis MIND Institute over 20 weeks. There is a screening visit to determine eligibility, followed by 16 weeks of treatment and a follow-up visit. Overall, the study will require 5 physical exams, medication reviews, 4 blood draws, urine testing, 6 electrocardiograms (ECGs) as well as cognitive tests and behavioral questionnaires. Patients will be required to take two pills (either placebo or study medication) twice a day for 16 weeks.  Adolescent males and females 12 to 17 years of age with Fragile X Syndrome.

Arbac301: Targeted Treatment of Arbaclofen for Adults and Adolescents with Fragile X Syndrome

The goal of this study is to explore the effectiveness, safety and tolerability of STX209 (arbaclofen) administered for treatment of social withdrawal in adolescents and adults with Fragile X Syndrome (FRX).  The study requires a total of 6 visits to the UC Davis MIND Institute over 14 weeks. There will be 3 study periods: Screening (up to 14 days in length) to determine eligibility, the Treatment Period (8 weeks, including 14 days of up-titration followed by stable dosing), the Treatment Withdrawal Period (up to 14 days), and Follow-up Period (up to 30 days). Subjects who complete the entire study may be eligible to enroll in a subsequent open-label study. Patients will also be asked to consent to an optional biomarker study. Overall, the study will require 2 physical exams, medication reviews, 5 blood draws, urine testing, 2 electrocardiograms (ECGs) as well as cognitive tests and behavioral questionnaires. Patients will be required to swallow pills and will take one to two pills (either placebo or study medication) once a day for up to 16 weeks.  Males and females 12-25 years of age with Fragile X Syndrome.

 

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Current Research Studies - David Hessl, Ph.D.

Genetic and Brain Correlates of Memory and Emotion

The purpose of this study is to examine whether people with the fragile X premutation have emotional, social, and memory difficulties, and if so, to understand the brain's contribution to these difficulties. We also want to find out whether changes in fragile X gene function are related to these difficulties.  Participants are asked to complete a brain imaging study, thinking and memory tests, interviews, and questionnaires, and to provide samples of blood and saliva. The protocol is usually completed over 2 days.  Male controls ages 18-45 years old, male Fragile X premutation carriers 18-45 years old, and brother pairs (one control and one fragile X premutation carrier) also between the ages of 18 and 45 years old.

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Current Research Studies - Susan Rivera, Ph.D.

Fragile X Syndrome and Down Syndrome Baby Study 

This prospective, longitudinal study will examine low- and high-level visual processing differences in infants with Fragile X Syndrome, Down Syndrome and typical development, in an attempt to elucidate where deficits do and do not exist in these disorders, and to guide new treatments. The information gained from this research will be utilized in future studies of early interventions using behavioral, medical and education-based treatments. The study is funded by the National Institutes of Health (R01HD056031). At Time 1, participants will complete eye tracking studies that examine low- and high-level visual processing and will also receive standardized measures of their motor, perceptual, and language abilities. At Time 2 (24 months later) some eye tracking tasks will be repeated, along with tests of numerical and spatial reasoning, and a comprehensive assessment for autism spectrum disorders. Participants 10 to 48 months of age with Fragile X Syndrome or Down Syndrome.

Amygdala Function in Children and Adolescents with Fragile X Syndrome

This study uses brain measurements (MRI) and measurements of startle, to investigate the function of the amygdala (a brain region responsible for regulating emotions) in children and adolescents with fragile X syndrome (FXS), as compared to typically developing controls. We will also examine relations between the function of the FMR1 gene, amygdala volume and function, and neuropsychological measures of social cognition and reciprocity in children and adolescents with FXS (who typically experience high levels of anxiety). Establishing the presence of amygdala dysfunction in FXS will help us lay the stepping stones for future treatment studies in this population. The study is funded by the National Institutes of Health (R21 MH080025).  Participants are asked to complete a brain imaging study, a measurement of reactions to startle, a series of interviews and questionnaires, and to provide a blood sample (if needed). The protocol is usually completed over 2 days.  Participants 8 to 18 years of age with Fragile X Syndrome or typical development.

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Current Research Study - Tony Simon, Ph.D.

Fragile X Spectrum as a Model to Explore Neurogenetic Mechanisms of Cognitive Dysfunction

To understand and quantify how variations in the mutation of the FMR1 gene produce a spectrum of cognitive dysfunction. A neurocognitive profile will be produced consisting of data from experimental cognitive testing and MRI. Children (8-12 years) and adults (20-40 years) with the full mutation and premutation will be included, along with typically developing controls.  Our protocol includes cognitive testing (2 hours), a mock MRI (1 hour) and MRI scan (2 hours), and IQ testing (1 to 2 hours). Some participants will also be asked to participate in a blood draw.  We are currently recruiting and enrolling males and females with pre, full, and mosaic Fragile X (8-12 and 20-40) as well as typically developing individuals (8-12 and 20-40).

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