Natural History Study for Genetic Disorders
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to better understand disorders related to the STXBP1 and SYNGAP1 genes. Researchers will gather information on how these conditions affect development, seizures, and quality of life to aid in designing future treatment trials. The study includes two groups: one for individuals with STXBP1-related disorders and another for those with SYNGAP1-related disorders. Individuals with a confirmed mutation in either the STXBP1 or SYNGAP1 gene who experience related symptoms might be suitable candidates for this trial.
As an unphased study, this trial offers a unique opportunity to contribute to foundational research that could lead to new treatments.
Why are researchers excited about this trial?
Researchers are excited about the STXBP1 and SYNGAP1 related disorders natural history study because it aims to gather invaluable data about the progression and characteristics of these rare genetic disorders. Unlike treatments that focus on alleviating symptoms, this study seeks to understand the underlying mechanisms of these conditions over time. By doing so, it lays the groundwork for developing targeted therapies that could offer more effective, personalized treatment options in the future. The insights gained from this study could revolutionize how these disorders are approached and treated, potentially leading to breakthroughs in medical care for affected individuals.
Who Is on the Research Team?
Ingo Helbig, MD
Principal Investigator
Children's Hospital of Philadelphia
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Baseline Assessment
Participants undergo baseline assessments including health and medical history, physical exams, EEG/qEEG, and neurodevelopmental and behavioral assessments
Follow-up Assessments
Participants undergo semi-annual assessments to evaluate changes in neurodevelopmental and behavioral parameters, quality of life, and healthcare resource utilization
Follow-up
Participants are monitored for safety and effectiveness after the main study period
What Are the Treatments Tested in This Trial?
How Is the Trial Designed?
2
Treatment groups
Experimental Treatment
Find a Clinic Near You
Who Is Running the Clinical Trial?
Children's Hospital of Philadelphia
Lead Sponsor
STXBP1 Foundation
Collaborator
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