2024 STXBP1 Summit+ Family Agenda
Welcome to the annual STXBP1 Summit+ in Drexel Hill, PA.
The Family Meeting runs Friday-Sunday, kicking off Friday evening with a Star themed Family & Researcher Dinner followed by a full day of sessions on Saturday and a wrap-up with Breakout sessions on Sunday morning.
Join us onsite over the weekend or virtually on Saturday during our YouTube Livestream.
See our daily agendas below.
Friday, 19 July: Registration, Research Opportunities & Dinner
Registration 3:30 - 5:45 pm
Research Opportunities
Star Themed Researcher/Family Dinner & Dance Party 6 - 9 pm (costumes optional and encouraged)
Saturday, 20 July: Family Day 1: Scientific Sessions
Registration 7:00 - 8:30 am
| Time | Session | Talk | Speaker | Institution |
|---|---|---|---|---|
| 7:30 – 8:10 am | Social Breakfast | Birds of a feather tables: Newly Diagnosed, Families with young children, Teens, Adults, International, Grandparents | ||
| 8:10 - 8:25 am | Family Stories | Adult STXBP1 Family Story | Anna Landon Thomas | STXBP1 Community |
| 8:25 - 8:45 am | Kick Off | Kickoff and Foundation Update | Charlene Son Rigby, MBA & Melissa Hioco | STXBP1 Foundation |
| 8:45 - 9:05 am | Clinical Session | STXBP1 Clinical Update | Ingo Helbig, MD | Children's Hospital of Philadelphia |
| 9:05 - 9:30 am | Clinical Trial Readiness and Natural History Studies | STARR Study update | Sarah Ruggiero, MS, LCGC, & Andrea Miele, PhD | Children's Hospital of Philadelphia & Children's Hospital Colorado |
| 9:30 - 9:55 am | Translational Research | State of Translational Research in STXBP1 | Ben Prosser, PhD | University of Pennsylvania |
| 9:55 - 10:20 am | Translational Research | Genetic Therapy Development | Mingshan Xue, PhD | Baylor College of Medicine |
| 10:20 - 10:40 am | Translational Research | Drug Repurposing Strategies | Maj Sundbom, PhD | Immedica |
| 10:40 - 11:10 am | Break - Music Therapist in Family Lounge 10:45 - 11:05 am | |||
| 11:10 - 11:20 am | Family Stories | Grandparent STXBP1 Family Story | Paula Rinaudo | STXBP1 Community |
| 11:20 - 11:40 am | Clinical Trial Readiness and Natural History Studies | Clinical Trial Readiness: Learnings from CDKL5 Deficiency Disorder | Ana Mingorance, PhD | Loulou Foundation / Dracaena Consulting SL |
| 11:40 - 11:55 pm | Clinical Trial Readiness and Natural History Studies | Data Collection & Registries: Simons Searchlight | Cora Taylor, PhD | Simons Searchlight |
| 11:55 - 12:10 pm | Clinical Trial Readiness and Natural History Studies | Data Collection & Registries: RARE-X | Zohreh Talebizadeh, PhD | RARE-X |
| 12:10 - 12:25 pm | Clinical Trial Readiness and Natural History Studies | Data Collection & Registries: Panel | Cora Taylor, PhD, Zohreh Talebizadeh, PhD & Sarah Ruggiero, MS LCGC | Simons, RARE-X & STARR |
| 12:25 - 1:30 pm | Social Lunch & Music Therapist in Family Lounge 1:00 - 1:20 pm | Birds of a feather tables: Newly Diagnosed, Families with young children, Teens, Adults, International, Grandparents | ||
| 1:30 - 1:40 pm | Family Stories | Newly Diagnosed STXBP1 Family Story | Alison Irwin | STXBP1 Community |
| 1:40 - 2:00 pm | Community | How to Participate in the STXBP1 Community | Melissa Hioco & Cristina Brennan, Esq | STXBP1 Foundation |
| 2:00 - 2:20 pm | Community | Studies You Should Participate in | Jackie Steinberg, MPH, BSN | STXBP1 Foundation |
| 2:20 - 2:30 pm | Community | Global Connect & Global Updates | Charlene Son Rigby, MBA & Ganna Balagura, MD, PhD | STXBP1 Foundation & ESCO Consortium |
| 2:30 - 3:00 pm | Break | |||
| 3:00 - 3:10 pm | Family Stories | STXBP1 Sibling Insights | STXBP1 Siblings | STXBP1 Community |
| 3:10 - 3:30 pm | Clinical Trial Readiness and Natural History Studies | Biomarkers | Jim Goss, PhD | STXBP1 Foundation |
| 3:30 - 3:50 pm | Therapy Development | Phenylbutyrate Study Update | Zachary Grinspan, MD, MS | Weill Cornell Medicine |
| 3:50 - 4:00 pm | Closing Day Remarks | Charlene Son Rigby, MBA | STXBP1 Foundation | |
| 5:00 - 6:30 pm | Grandparents’ Happy Hour | Streetlight Kitchen & Bar Patio (in Hotel) Hors D’ Oeuvres and Drinks - Hosted by Matuses Adult siblings, aunts, uncles, and other caregivers are welcome! | STXBP1 Community | |
| 5:00 - 6:30 pm | Parents Social | Streetlight Kitchen & Bar Inside (in Hotel) Food and Drinks available for purchase | STXBP1 Community | |
| 6:45 - 9:00 pm | STXBP1 Family Movie Night | Disney Movie "Wish" - with snacks & desserts | STXBP1 Community |
Sunday, 21 July: Family Day 2: Support Sessions
| Time | Session | Talk | Speaker |
|---|---|---|---|
| 7:30 – 8:30 am | Social Breakfast | Birds of a feather tables: Newly Diagnosed, Families with young children, Teens, Adults, International, Grandparents | |
| 8:30 - 9:45 am | Parent to Parent Track I | Parent to Parent Panel - All things STX and the ups & downs of parenting a child with STXBP1 | Parent Community |
| 8:30 - 9:45 am | AACcess For All: Recognizing Communication Potential for Every Individual | Communication is a complex activity that individuals learn along a developmental framework, however when someone can’t talk, walk, or interact like their peers, we know that communication becomes affected. This session will provide education on making sense of what communication is, how we can think about it in a realistic mindset, and how AAC/intervention can support it. | Ashley Johnson, MA, CCC-SLP |
| 9:45 - 10:00 am | Break | ||
| 10:00 - 11:15 am | Parent to Parent Track II | Parent to Parent Panel - All things STX and the ups & downs of parenting a child with STXBP1 | Parent Community |
| 10:00 - 11:15 am | The Other Side of Special: Navigating the Messy Emotion of Grief and Empowering STXBP1 Parents & Family Members with Tools for Healing | This workshop offers a supportive space for STXBP1 parents and other family members to explore the complex emotions of grief and equip themselves with practical tools for processing and healing. Grieving the life you imagined for your child, grappling with the challenges of their diagnosis, and navigating the uncertainties of the future can be overwhelming. However, by acknowledging and understanding your grief, you can begin a transformative journey towards acceptance and resilience. | Carrie Holt, Author, Speaker, Special Needs Mom |
| 11:25 - 11:45 am | Closing Remarks | Charlene Son Rigby, MBA & Melissa Hioco |
