Rare Disease Day: Fragile X Premutation Info Session

Monday, March 02, 2026 @ 6:30pm

Middletown Arts Center
36 Church Street, Middletown, NJ 07748

03/02/2026

6:30 pm

FREE

36 Church Street, Middletown NJ 07748

Nicole Tortora, a researcher at the New York State Institute for Basic Research in Developmental Disabilities, is seeking control group participants for a study on the development of somatic symptoms in girls aged 6–12 with an FMR1 mutation. To complete this research, she is recruiting mothers of daughters in this age range who do not carry this mutation to serve as the control group.

In-Person Meeting: Nicole will be present on Monday, March 2nd, 6:30 PM, at the Middletown Arts Center to answer questions, provide consent forms, and enroll participants.

Mutations in the FMR1 gene cause Fragile X syndrome, the most common inherited cause of intellectual disability and autism. Additionally, individuals who are carriers of a fragile X premutation are at risk for certain health challenges. Beyond the two most well-known adult-onset conditions—FXPOI (primary ovarian insufficiency) and FXTAS (tremor/ataxia syndrome)—carriers may also experience other symptoms, including anxiety, depression, sleep disturbances, and chronic physical symptoms like fatigue or muscle pain.

What is the Fragile X premutation? (Video provided by the National Fragile X Foundation)

03/02/2026

6:30 pm

FREE

36 Church Street, Middletown NJ 07748

Nicole Tortora, a researcher at the New York State Institute for Basic Research in Developmental Disabilities, is seeking control group participants for a study on the development of somatic symptoms in girls aged 6–12 with an FMR1 mutation. To complete this research, she is recruiting mothers of daughters in this age range who do not carry this mutation to serve as the control group.

In-Person Meeting: Nicole will be present on Monday, March 2nd, 6:30 PM, at the Middletown Arts Center to answer questions, provide consent forms, and enroll participants.

Mutations in the FMR1 gene cause Fragile X syndrome, the most common inherited cause of intellectual disability and autism. Additionally, individuals who are carriers of a fragile X premutation are at risk for certain health challenges. Beyond the two most well-known adult-onset conditions—FXPOI (primary ovarian insufficiency) and FXTAS (tremor/ataxia syndrome)—carriers may also experience other symptoms, including anxiety, depression, sleep disturbances, and chronic physical symptoms like fatigue or muscle pain.

What is the Fragile X premutation? (Video provided by the National Fragile X Foundation)

This study aims to better understand how physical symptoms like aches or fatigue develop in childhood. Participation from families who are not affected by this mutation is essential for the accuracy of the findings and will ultimately help improve care for those who are.

Participation Steps

Participation is straightforward and involves the following:

• In-Person Meeting: Nicole will be present on Monday, March 2nd, 6:30 PM, at the Middletown Arts Center to answer questions, provide consent forms, and enroll participants.


• Questionnaires: Mothers will complete two questionnaires regarding their daughter’s health and development.


• Clinical Testing (optional): For those who have not been tested for the FMR1 mutation or do not have results from previous testing, Nicole will offer clinical saliva testing. A report will be provided for your personal records.

Please let Nicole know if you are interested in participating and able to attend the meeting on March 2nd, or if you would like to discuss an alternative date and time. You can contact her directly at [email protected] or 718-494-5154. Your participation is a vital contribution to the scientific community; without the help of families like yours, researchers cannot build the scientific foundation necessary to provide clearer answers and better care for those affected.