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The Translational Neuroscience Center (TNC) aims to collaborate with patient advocacy organizations for rare and ultra-rare monogenic, neurodevelopmental disorders (NDDs) to advance clinical care and translational research. The ACTION Initiative is a longitudinal natural history protocol for rare monogenic neurodevelopmental disorders (NDDs). The goal of this project is to build clinical trial readiness through the generation of validated endpoints and biomarkers for such conditions. This initiative will provide longevity and targeted support for rare NDDs that individual patient advocacy organizations may not be able to achieve on their own.<\/p>\n
The protocol provides a basic framework for standardized data collection that can be customized to fit the specific needs of each NDD cohort that participates. Data collection includes annual visits with the study team, medical record reviews, neurobehavioral questionnaires and assessments, quality of life assessments, research EEGs, biological sample collection, and photograph collection. Expert units of the TNC, including the Translational Genomic Medicine Core, Human Neurobehavioral Core Service, Human Neuron Core, and Clinical Neurophysiology Research Core, will collaborate to carry out the protocol.<\/p>\n
[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/epitomestaging.com\/tnc\/wp-content\/uploads\/2024\/09\/424-PAT-OVIEW-0996-750-640.jpg” alt=”Clinician meeting with parent and child in sunlit room at RSZ TNC” title_text=”424-PAT-OVIEW-0996-750-640″ _builder_version=”4.27.4″ _module_preset=”default” height=”350px” height_tablet=”350px” height_phone=”350px” height_last_edited=”on|desktop” global_colors_info=”{}”][\/et_pb_image][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” background_color=”#bbe4ed” custom_margin=”||-1px|||” custom_padding=”20px|20px|20px|20px|true|true” locked=”off” global_colors_info=”{}”]<\/p>\n
Learn how families are leading the charge in rare disease advocacy. Read how grassroots advocates work on a local level to make a difference in the lives of people with neurologic conditions.<\/p>\n
read more ><\/a><\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.27.4″ _module_preset=”default” custom_margin=”3px||||false|false” custom_padding=”30px||||false|false” global_colors_info=”{}”][et_pb_row use_custom_gutter=”on” gutter_width=”2″ _builder_version=”4.27.4″ _module_preset=”default” custom_margin=”||||false|false” custom_padding=”0px|0px|40px|0px|false|false” border_width_bottom=”1px” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” min_height=”49px” custom_margin=”||||false|false” custom_padding=”||13px|||” global_colors_info=”{}”]<\/p>\n [\/et_pb_text][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” header_2_text_color=”#000000″ hover_enabled=”0″ global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n Kleefstra syndrome (KS) researchers and members of the TNC, including Dr. Siddharth Srivastava, Dr. Maya Chopra, Abigail Sveden, and Zo\u00eb Frazier, developed a comprehensive KS and neurobehavioral-specific data collection measures for ACTION. Data collection occurs annually for three years, and includes interviews with the participant\u2019s family, physical and neurological exams, medical record reviews, a KS-specific neurobehavioral battery, optional research EEGs, optional Fitbit, optional biological sample collection, and optional photograph collection. While in-person data collection will be prioritized, all study components (apart from the research EEG and sample collection) may be completed virtually, increasing the accessibility of the initiative to participants who are unable to travel to Boston Children\u2019s Hospital.<\/p>\n The study will include 30 participants ages 2 – 21 years with a known diagnosis of KS based on molecular confirmation (chromosomal deletion of 9q34.3 including EHMT1<\/em> or a likely pathogenic or pathogenic variant within EHMT1<\/em>).<\/p>\n Download Recruitment Flyer ><\/a><\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row use_custom_gutter=”on” gutter_width=”2″ _builder_version=”4.16″ _module_preset=”default” custom_margin=”||||false|false” custom_padding=”30px|0px|40px|0px|false|false” border_width_bottom=”1px” locked=”off” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” header_2_text_color=”#000000″ custom_padding=”||0px|0px|false|false” global_colors_info=”{}”]<\/p>\n The MED13L Syndrome cohort of the ACTION Initiative, led by geneticist, Dr. Maya Chopra and neurologist, Dr. Sara Trowbridge, has been established in collaboration with the MED13L Foundation. Data collection for the cohort leverages RSZ TNC resources shared across several Natural History Study cohorts, with neurobehavioral assessments and medical history collection designed specifically for MED13L Syndrome. Data collection will occur annually for three years and will include an interview with the study team, physical and neurological exams, neurobehavioral assessments and questionnaires, medical record collection, and optional collection of photographs and\/or blood samples. Participants may complete data collection in-person at Boston Children\u2019s Hospital or virtually, with the option to complete initial data collection at the MED13L Foundation\u2019s 2025 Research and Family Meetup in Waltham, MA.<\/p>\nOur current ACTION cohorts<\/h2>\n
IDefine- Kleefstra Syndrome<\/h2>\n
MED13L Foundation – MED13L<\/h2>\n