Effects of AFQ056 on Language Learning in Young Children with Fragile X Syndrome
(Summer 2017–2019)

Contact: Sumra Afzal, at 916-703-0251 or sumafzal@ucdavis.edu for more information about this study.

The purpose of this study is to find out if the drug AFQ056, made by the pharmaceutical company Novartis, is safe and has beneficial effects of language learning in children who have fragile X syndrome (FXS). The study also aims to find out if a structured language intervention can help children with FXS communicate better. AFQ056 is an investigational drug which means that the drug is not currently approved by the United States Food and Drug Administration (FDA) for the treatment of FXS. Participants will be in this study for 21 months, which includes a total of 15 in-person study visits at the UC Davis MIND Institute and frequent phone/video visits.
We are recruiting males and females, ages 3-6 year old children who have been diagnosed with Fragile X Syndrome.

A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals with Fragile X Syndrome
(April 2018–2021)

Contact: Jasdeep Shergill, at 916-703-0471 or jkshergill@ucdavis.edu for more information about this study.

The purpose of this study is to test the effects of metformin, a common type 2 diabetes medication. There is evidence that metformin is beneficial for language, cognitive development, and eating behavior in children and adults with FXS. If you participate in this study, you can expect three visits to the UC Davis MIND Institute over a four-month period. These visits will include cognitive, language, sensory, and social assessments administered by the MIND Institute team. The visits will also include medical appointments with Dr. Randi Hagerman, and all visits will have a blood draw for the participant. The study medication is currently available in capsule form and would need to be given twice daily. There are also phone calls during the four months to see how your child is doing in the study.
We are recruiting males and females, ages 6-25 who are diagnosed with Fragile X Syndrome.

Genotype-Phenotype Relationships in Fragile X Families
(March 2017-February 2022)

Contact: Bella McLennan, at 916-703-0472 or yamclennan@ucdavis.edu for more information about this study.

This study aims to learn more about the fragile X premutation in older adults compared to those without. We will follow over 100 patients with FXTAS ages 55 to 75 in a prospective study to develop innovative clinical measures to identify areas of specific deficits and to identify biological markers for each stage of the. If you participate in this study, you can expect: 2-3 visits to the MIND Institute, which will include a medical history exam, neuropsychological evaluation, behavioral testing, neurological evaluation, balance and tremor assessments, MRI, blood draw, and skin biopsy
We are recruiting males and females with the premutation (ages 55-85 years) who are having symptoms of FXTAS.

Fragile X Clinical and Research Cooperative Consortium Registry and Repository
(Fall 2009–2019)

Contact: Forrest McKenzie
916-703-0461 fjmckenzie@ucdavis.edu
Andrea Drayton
916-703-0292
adrayton@ucdavis.edufor more information about this study.

This study aims to develop standards of care for diagnosis, evaluation and treatment (medical, psychological, educational and behavioral) for individuals with fragile X full mutation or premutation by collecting data from individuals who are seen at a Fragile X Clinic and Research Consortium Clinic. The protocol involves registering with the database and completing parent questionnaires.
We are recruiting males and females with the full mutation or premutation.

Longitudinal Study of Brain and Cognition in Fragile X Premutation Carriers
(Summer 2018–2023)

Contact: Jessica Famula, at 916-703-0470 or jfamula@ucdavis.edu for more information about this study.

This study examines changes in the brain and cognition associated with aging, in males with and without the fragile X premutation. The study consists of three 2-day visits over the course of five years to observe changes in the brain and cognition occurring over time. The protocol involves a medical history exam, neuropsychological evaluation, behavioral testing, MRI, and blood draw.
We are recruiting males (ages 45 years and over) with and without the premutation.

A Cognitive Test Battery for Intellectual Disabilities
(Summer 2014–2019)

Contact: Rebecca Shields
916-703-0121
rhshields@ucdavis.edu
Forrest McKenzie
916-703-0461
fjmckenzie@ucdavis.edu
for more information about this study.

The purpose of this research is to explore whether certain types of intellectual or cognitive tests are reliable, valid, and sensitive to improvement in evaluating treatment responses among individuals with intellectual disability. This newer cognitive test has been shown to accurately measure various cognitive skills across a wide age range, but has yet to be adapted and tested among individuals with intellectual disability. Participation in the study involves two to three visits at the UC Davis MIND Institute. The first visit will last approximately 3.5–4 hours and is scheduled over a two-day period. The second visit is scheduled approximately 4 weeks later and will be much shorter, only lasting about an hour. Some participants will be asked to return for a third visit. The schedule for the third visit is the same as the first visit and will take place approximately two years later. These visits will include cognitive testing for your son/daughter, and parents/guardian will be asked to fill out questionnaires. This is a multisite study with teams in Chicago and Denver also seeking participants.
We are recruiting individuals between the ages of 6–25 years old with a confirmed diagnosis of intellectual disability caused by fragile X syndrome, Down syndrome, or another cause.

Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
(2019-2020)

Contact: Siobhan Vasquez, at 916-548-8766 or skvasquez@ucdavis.edu for more information about this study.

This is a randomized, double-blind, placebo-controlled study, to assess the efficacy and safety of ZYN002, a pharmaceutically manufactured cannabinoid formulated as a gel applied to the skin, for the treatment of children and adolescent with fragile X syndrome. At the visits, blood samples will be collected, and parents/caregivers will be asked to complete some questionnaires. An open-label extension will begin in 2019; only participants participating in the placebo-controlled study will be eligible.
We are recruiting males and females with fragile X syndrome ages 3 to < 18 years.

A Phase 2a Randomized, Double-Blind, Parallel Group, Proof-of-Concept Study Evaluating the Safety, Tolerability, and Efficacy of OV101 in Fragile X Syndrome (2019)

Contact: Catie Clyde, at 916-703-0281 or clclyde@ucdavis.edu for more information about this study.

The main purpose of this research study is to test how safe, tolerable, and effective OV101 (also known as gaboxadol) is in treating behavioral symptoms in males with fragile X syndrome (FXS). Study participants will be randomly assigned to receive one of three doses of OV101 to be administered three times per day (morning, afternoon, and evening). The medication is currently available in capsule form, and the capsule contents can be sprinkled onto a teaspoon of applesauce or low-fat yogurt if desired. If you participate in this study, you can expect 6 visits to the MIND Institute and four phone calls. The visits will include a medical exam with Dr. Randi Hagerman and questionnaires to be completed by the participant’s caregiver. Blood and urine will be collected at each visit.
We are recruiting males with fragile X syndrome between 13 and 22 years old..