If you are interested in joining the registry, please e-mail us at stxbp1.registry@ubc.ca

CANADIAN

PATIENT REGISTRY

The goal of this national registry is to survey people living with STXBP1 disorders across Canada. We hope 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. We hope that our registry will encourage families to reach out to each other as well.

To find out more about participating, please email our team: stxbp1.registry@ubc.ca or call 1 604 875 2121. There is no cost to participating, and a participant may withdraw at any time.

 

Once we have been contacted there are few steps to participation that we will guide participants through:

  1. Review and signature of the “Informed Consent” documents.

  2. Completion of a secure electronic survey of medical history and neurocognitive questionnaires; alternatively, paper copies may be completed. A phone call may be ideal sometimes to fill-in any blanks. All information is provided voluntarily and nothing is “required”.

  3. In some cases, we may request that a “Release of Information” be signed such that we can obtain more detailed reports from the medical chart.

  4. Completion of an annual update.

ABOUT STXBP1

A disorder of the Syntaxin-Binding Protein 1 (STXBP1) gene is one of the most common causes of epileptic encephalopathy (brain dysfunction caused by or related with epileptic activity). It is an autosomal dominant disease, meaning only one mutated copy of this gene is enough to cause the disease. The severity of the disorder is a spectrum, different from one person to another.

SYMPTOMS

Symptoms usually occur in infancy but may begin in childhood or early adulthood. These may change over time.

 

Intellectual Disability:

moderate to severe, which may be accompanied with behavioural problems such dysregulation and features of autism

MECHANISM

STXBP1 is involved with the release of neurotransmitters in neurons. Specifically it assists with the binding of vesicles (filled with neurotransmitters) to a neuron's cell membrane for release.

This dysfunction of neurotransmitter release can cause a wide range of symptoms and disorders.

CURRENT TREATMENT

Anti-seizure Medication:

choice depends on the types of seizures, potential side effects and experience of the treating neurologist. Levetiracetam, or a related medication, may be a reasonable first choice as it works in the pathway where the functional problem is. Infantile spasms are treated differently from other seizure types. A “rescue” medication, usually a benzodiazepine, is often provided to use in case of a prolonged seizure. Rarely, drug-resistant seizures may be treated with neurosurgery.

 

ABOUT US

The STXBP1.ca Canadian registry team is a collaboration of neurologists and psychologists along with a research team across Canada. The project is led by Dr. Cyrus Boelman, working closely with collaborators, Drs. Jennifer Engle, Danielle Andrade and Cecil Hahn. The registry is based at BC Children’s Hospital in Vancouver, B.C. and funded by the Rare Disease Foundation. The study team is keen on collaboration with families and other researchers and physicians. We encourage families to explore the many resources available to learn and engage in understanding STXBP1-related disorders.
This research project is approved by BC Children’s and Women’s Research Ethics Board. For more information or concerns, the Research Ethics Board can be contacted at The Research Participant Complaint Line in the University of British Columbia Office of Research Services by e-mail at RSIL@ors.ubc.ca or by phone at 604-822-8598 (Toll Free Number 1-877-822-8598) and reference project H-17-03315.
 

RESOURCES

STXBP1 Related Resources

Updated Published Research Articles about STXBP1

United States-based STXBP1 registry - Join Both!

General Resources for Youth and Families

Health Education Resource

Mental Health Resource

Healthy Living Resource

BC Children's Hospital