Clinical Trials and Research
The STXBP1 Foundation works with multiple collaborators and stakeholders to support research to accelerate development of therapies for our patient community. In fostering partnerships with researchers, physicians, medical industry leaders, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and identify therapeutic strategies.
For patients and patient families, participating in research studies is an important method for increasing what we know about STXBP1 patients, and accelerating development of future treatments and therapies.
Current/Planned Clincal Trials
Interest in developing therapeutics for STXBP1 disorders has never by greater. Clinical trials are research studies performed in people and test new ways to prevent, detect, diagnose, or treat diseases. Below is a list of current or planned clinical trials involving STXBP1 disorder. Please note that clinical trial enrollment is often erratic, so check back often to see if a given trial is currently enrolling participants.
For a general overview of clinical trials click here.
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Glycerol phenylbutyrate is a FDA approved drug, sold under the brand name Ravicti, for the treatment of urea cycle disorders. Experimental evidence in animals suggests that this drug could enhance the functioning of the STXBP1 protein. A small clinical trial is being conducted to determine if this drug could be beneficial for STXBP1 encephalopathy, specifically in regards to reducing seizure freequency.
Site: USA (NY)
More Information: For latest update from the study, click here
*This trial has closed, and is not enrolling any more patients.*
If anyone outside of this study has or currently is taking 4-Phenylbutyrate for STXBP1-related disorders, please contact naturalhistory@stxbp1disorders.org at the STXBP1 Foundation. There is interest in learning from everyone's experiences.
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This is a pilot non-controlled clinical trial with adjunctive fenfluramine for the treatment of five different types of developmental and epileptic encephalopathies (DEEs), including STXBP1, focused on epileptic and "non-epileptic outcomes for patients of 2 to 35 years of age.
Site: Spain
For more information: https://clinicaltrials.gov/ct2/show/NCT05232630
*This study IS currently enrolling participants*
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Longboard Pharmaceuticals is testing a new investigational drug, LP352, for the treatment of seizures associated with developmental and epileptic encephalopathies (DEEs), including STXBP1.
To be eligible for the trial participants must be:
1) 12 to 65 years of age
2) Diagnosed with a DEE
3) Currently taking 1 to 4 antiseizure medications at a stable dose
Site: USA
*This study has finished enrolling participants; however if you want to be considered for future studies please Click Here*
Observational Studies and Registries
An observational study is a type of study that observes an individual or group without any intervention or treatment. One example is a natural history study, which looks at how a disease changes over time in a patient population.
Additionally, a patient registry is an organized system for collecting, storing, and disseminating information about people who have a disease. Some patient registries function or can be used for natural history studies and are often used to recruit patients for clinical trials.
This table provides information on the natural history studies, as well as how they complement each other, and work together. And, you can help speed research efforts right away by building a readily-available pool of data on STXBP1.
| Study | Focus | What's Involved | Who Can Participate |
|---|---|---|---|
| RARE-X | Cross-symptom including neurological, GI, motor and vision | Series of surveys (online) | Global, participant must speak English fluently |
| Simons Searchlight | Neurodevelopmental, medical and autism | Medical history interviews, set of surveys, and bio-samples (online) | Global, participant must speak English, Spanish, French, or Dutch fluently |
| Ciitizen | Health records | One-time form to complete | US - Ciitizen will request records. Global, medical records can be uploaded; must be in English |
| STARR | Prospective medical and cross-symptom | Clinical visit and set of surveys every 6 months (in clinic) | Residents of US, Canada, and Mexico |
Learn more about natural history studies here.
If you experience any issues with registering or have a comment to share, please email naturalhistory@stxbp1disorders.org.
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The STARR study is a prospective, multi-site natural history study for STXBP1-Related Disorders (STXBP1-RD). The purpose of this study is to gain a better understanding of how STXBP1-RD progresses over time and develop a standardized set of clinic assessments and biomarkers for STXBP1-RD patients. This study is an important step in preparing our community for upcoming clinical trials for new drugs and therapeutics.
To learn more about the STARR study, please click here.
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The STXBP1 Foundation has partnered with Simons Searchlight for our Patient Registry. If your child has a confirmed STXBP1 genetic diagnosis, please consider joining our registry to grow the STXBP1 patient participants, and to encourage research on this gene. It’s secure, and the sign-up process is simple.
More Information: http://simonssearchlight.org
How to Participate: Click here to learn more and join.
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Ciitizen is a natural history study that utilizes information collected in electronic medical records. It requires no in-person visits or phone calls. At this time, they are accepting anyone from around the world, but medical records must be in English.
More Information: https://www.ciitizen.com/
How to participate: https://www.ciitizen.com/stxbp1/?utm_source=STXBP1%20Foundation&utm_medium=Partner%20Marketing&utm_campaign=Website&utm_content=&utm_channel=STXBP1%20Foundation&utm_vehicle=Website
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RARE-X is a data collection platform which asks general questions on all body systems (regardless if they are associated with the patient’s primary diagnosis or not) in a “head to toe” survey. Follow up surveys ask more detailed questions on identified areas through the initial survey. Surveys are done online and at one’s own pace. At this time, they are accepting anyone from around the world, but must be able to read English fluently.
More information: https://rare-x.org/
How to participate: https://www.stxbp1disorders.org/rare-x
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Dr. Cyrus Boelman, working closely with collaborators, Drs. Jennifer Engle, Danielle Andrade and Cecil Hahn has launched a Canadian national registry for STXBP1. The project is surveying people living with STXBP1 disorders across Canada. The goal is to better understand this rare disorder, by way of characterizing the spectrum of symptoms, understand how they may be best managed, and from this understanding educate others, including physicians, researchers and therapists, to improve the quality of life of those affected by the disorder.
More Information: https://www.stxbp1.ca/
How to Participate: Email stxbp1.registry@ubc.ca or Call 1 604 875 2121
Clinical Patient Research Studies
Many hospitals and clinics that care for STXBP1 patients collect patient data to help better understand the symptoms and pathologies associated with STXBP1-related disorders.
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The Epilepsy Genetics Research Program at Toronto Western Hospital is conducting a study on the adult outcomes of developmental and epileptic encephalopathies. The study is being led by Dr. Danielle Andrade at the Toronto Western Hospital.
The study focuses on 5 developmental epilepsies: STXBP1, SCN2A, SCN8A, CHD2 and PCDH19. It is very important to understand the adult outcome of patients with these rare genetic epilepsies, as most information we have so far is in children.
For background on the study, watch this video from Dr. Andrade.
The study is recruiting patients 18 years or older with a pathogenic mutation in STXBP1. The study involves completing 3 questionnaires and is estimated to take an hour of time. Participants will receive a gift card for their time. The study will look at seizure frequency as well as the other comorbidities.
How to participate: To learn more or participate in the study, please contact the Research Coordinator, Marlene Rong, at marlene.rong@uhnresearch.ca or +1 416 603.603.5800 x5906.
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Survey on Transitions to Adult Care
The International League Against Epilepsy (ILAE) is sponsoring a research study on the "Perception of transition from pediatric to adult healthcare system in patients with epilepsy". This is an initiative of the ILAE Transition in Care from Childhood to Adult Task Force, and the study is being led by Dr. Danielle Andrade at the Toronto Western Hospital.
Transition is the planned process of moving patients with child-onset epilepsy to adult care. Transition usually starts several years before the patient becomes adult and ends when the patient stops seeing a child neurologist. For background on the study, watch this video from Dr. Andrade.
Families of patients 12 and above, including patients who have already completed transition to adult care, can participate. English and Spanish surveys are available.
How to participate: To learn more or participate in the study, please contact Quratulain Zulfiqar Ali, MD at Quratulain.zulfiqar_ali@uhn.ca, or scan the QR code here.
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The Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia integrates genetic testing into the diagnosis and treatment of children with difficult-to-treat or unexplained epilepsies, and provides access to expert care for children with genetic epilepsy syndromes and other genetic neurodevelopmental disorders. Treatment of children with STXBP1-related disorders and research into this genetic condition are a focus of members of ENGIN. ENGIN is currently one of the largest centers worldwide to provide care for children with STXBP1-related disorders.
For children with STXBP1-related disorders, ENGIN can provide second opinions or more information about what the diagnosis means, arranging a comprehensive neurogenetic evaluation and genetic counseling session with an attending neurologist and genetic counselor who specialize in STXBP1-related disorders. Through ENGIN, children also have access to any other medical specialists they may need, as well as a full range of epilepsy therapies provided through CHOP’s Pediatric Epilepsy Program, including epilepsy management, dietary treatment, epilepsy surgery, cutting edge research and future clinical trials, and ongoing follow up care. All individuals seen in the ENGIN Clinic are offered the opportunity to participate in our research studies.
More Information: https://www.chop.edu/centers-programs/epilepsy-neurogenetics-initiative-engin
How to Participate: For a clinical appointment, please contact 215-590-3743 or ENGIN@email.chop.edu.
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Doctors at the University of Pennsylvania and Children’s Hospital of Philadelphia, along with colleagues in Europe, are conducting an observational research study of adults with STXBP1 Disorders. The goal of the study is to understand the full spectrum of symptoms and challenges faced by adults with STXBP1. The knowledge gained through this study will be vital to families wondering what to expect, and to future treatment trials that hope to change the course of these disorders.
Anyone with STXBP1 Disorder age 18 years or older is eligible to participate. The study involves a detailed questionnaire, one in-person examination, and video recordings. There are no invasive tests and no experimental treatments during this study.
How to Participate or Ask Questions: Contact Priya Vaidiswaran, Research Coordinator, at +1.267.425.1690 or VAIDISWARP@EMAIL.CHOP.EDU
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The Department of Functional Genomics at the Centre for Neurogenomics and Cognitive Research at Vrije Universiteit & Amsterdam University Medical Centre conducts Clinic Days to bring together patients and families for multi-level assessments including a detailed clinical profile and EEG. Families also get to meet each other and learn more about STXBP1 and the VU’s research. The goal is to build a more systematic description of shared and non-shared symptoms and link these insights to studies on animal- and cell models for STXBP1 encephalopathy. The VU has collaborated with the Danish Epilepsy Centre, Filadelfia and the Sørensen lab at the University of Copenhagen.
More Information: Email stxbp1@amsterdamumc.nl
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Encoded Therapeutics is launching a research project called STXBP1 ENGAGE to learn about children’s experiences living with STXBP1. The study is open to families in Australia, Canada, Spain, UK and US, with a child living with STXBP1 who is 8 years of age or younger.
Learn more about the STXBP1 ENGAGE study here
*This study is closed