Get Ready for Clinical Trials

Help STXBP1 Get Ready for Clinical Trials

The path towards drug discovery can take many years. Before clinical trials start, scientists need to understand how a potential therapy may work in the patient population. One way our community can aid in the process is through clinical data and biospecimen - such as blood or tissue - collection. 

The “Get Ready” campaign is our next goal after our previous “All In” campaign and the launch of the STARR Natural History study. With the All In campaign, we asked the community to join the different observational studies available to the STXBP1 community, such as Simons Searchlight, Citizen Health, and RARE-X. This new program focuses on specific surveys and tasks that closely align with important information specifically needed to be captured for as many patients within the STXBP1 community as possible.

Your participation will help us get ready with that important data and have it readily available for researchers as we move into clinical trials for therapies. The best way to help us Get Ready right now is by completing as many of our active surveys and studies as possible. These priority surveys are currently in English and we are working on expanding them to other languages; so, please do the ones that you can to help out today.

And, to make it as simple as possible for everyone to join in, we’ve created a priority checklist for you to stay organized and keep track of the important surveys and studies you’ve completed.

Learn More in this Webinar

See how easy it is to participate in STXBP1-related disorders priority surveys and studies by using a downloadable checklist. Learn what it takes for our community to be ready with patient data for clinical studies. And even make your own STXer famous by pledging to try and complete as many of our surveys and studies as possible.

Get Ready Checklist

• Register in the STXBP1 Contact List on the STXBP1 website

• Enroll in the STARR Natural History Study* - you can find the sites here

• Enroll in RARE-X and upload Your STXer’s Genetic Report in your RARE-X dashboard

• Complete These 7 Priority Surveys in your RARE-X dashboard

  • Head to Toe

  • Quality of Life Inventory - Disability (QI-Disability) 

  • Medical Encounters Survey

  • Medication and/or Supplement Usage

  • Observer-Reported Communication Ability (ORCA) Measure

  • Children's Sleep Habits Questionnaire

  • Vineland-3 Comprehensive Parent/Caregiver Form

• Provide Biospecimens** from your STXer and their Siblings through COMBINEDBrain

• [Optional] Submit your STXer’s name for listing on the STXBP1 website’s Get Ready Pledge Wall

  *eligibility determined by site
  **eligible in the US only

Get Ready Pledge Wall

We would like to thank you and acknowledge all the time, dedication, and patience that our families have proven by listing your STXer on our Get Ready Pledge Wall of Fame. It’s a great way to show your commitment by pledging to complete as many of our surveys and studies as possible as we Get Ready to accelerate our research into clinical trials.

Just email us at get-ready@stxbp1disorders.org with your STXer name, hometown, and state, and we’ll make them famous by getting their listing published on our site.

More Opportunities to Participate in Research and Learn

You can see a comprehensive list of all our ongoing clinical trial readiness initiatives here.

And, you can learn more about the clinical trial process in the blog posts of our Scientific Director’s Corner here.

You can always send an email with any research related questions to research@stxbp1disorders.org.