Newly Published “Voice of the Patient Report”

The "Voice of the Patient" Report summarizes the Externally Led Patient-Focused Drug Development (EL-PFDD) meeting for STXBP1-related disorders held on October 20, 2023. In this meeting, the STXBP1 Foundation brought the STXBP1 patient community together with the intent to inform the FDA and other stakeholders about the patient perspective of living with STXBP1-related disorders.

The Voice of the Patient report is important because it will be a reference for future decisions about potential medicines for STXBP1-related disorders.

You can download and / or read the report anytime from here.

In the report we cover the following topics:

• Key Insights about STXBP1-related disorders from the EL-PFDD

• Clinical Overview of STXBP1-related Disorders

• Meeting Summary

• Topic 1: STXBP1-RD symptoms and daily impact

  • Individuals living with STXBP1 -RD experience a very large number of different symptoms, with speech and communication difficulties, seizures, motor delays and cognitive issues being the most troublesome

  • STXBP1-RD impacts are profound with all activities of daily life affected; most patients require constant care and supervision

  • Caregivers worry about who will care for their child after they are no longer able, that symptoms will get worse, the loss of current skills/functioning, and dying prematurely

• Topic 2: Current and future approaches to treatment

  • Seizure medications are the top medical approach to treat STXBP1-RD symptoms. A large number of other medications are also required

  • Most individuals living with STXBP1-RD engage in a large number of therapies. Physical, occupational, speech therapy and other therapies are the top non-medication approaches to help manage STXBP1-RD symptoms

  • Despite not being able to influence the trajectory of disease, most caregivers indicated that their treatment regimen works “somewhat” or “to a great extent” to manage the most significant symptoms of STXBP1

  • STXBP1-RD treatments have many drawbacks: they only treat some but not all the symptoms, they are not very effective at treating target symptoms and have side effects

  • Short of a complete cure, caregivers would like to give their loved ones a greater ability to communicate, improved cognition and reduced seizures. They also identified other gaps in the treatment landscape

Learn more about the EL-PFDD meeting and even watch the full meeting here.