Clinical Trials and Observational Studies
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.
Clinical Trials
Interest in developing therapeutics for STXBP1 disorders has never been greater. Clinical trials are research studies performed in people and test new ways to detect, diagnose, treat or prevent diseases. Below is a list of current or planned clinical trials involving STXBP1 disorders.
For a general overview of clinical trials click here.
And, to see how you can help the STXBP1 community get ready for clinical trials go here.
-
The DEEp OCEAN Study is a Phase 3 trial investigating the efficacy, safety, and tolerability of LP352 in the treatment of seizures in children and adults with developmental and epileptic encephalopathies (DEE). Longboard Pharmaceuticals is sponsoring the trial.
Site: Multiple US sites
More information: https://deepdeestudy.com/ and https://clinicaltrials.gov/study/NCT06719141
Status: *This study IS currently enrolling participants*
-
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: Madrid, Spain
More information: https://clinicaltrials.gov/ct2/show/NCT05232630
Status: *This study IS currently enrolling participants*
-
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 and CO)
More Information: For latest update from the study, click here
ClinicalTrials.gov: https://clinicaltrials.gov/ct2/show/NCT04937062
*This trial is no longer recruiting STXBP1 patients.*
If anyone outside of this study has or currently is taking Phenylbutyrate for STXBP1-related disorders, please see the Phenylbutyrate studies under Observational Studies on this page, or naturalhistory@stxbp1disorders.org at the STXBP1 Foundation. There is interest in learning from everyone's experiences.
-
Dr. Kristin Barbour from University of California, San Diego is conducting a study on those taking Ravicti (phenylbutyrate) outside of a clinical trial. The goal is to understand the potential benefits and/or side effects of phenylbutyrate for STXBP1, SLC6A1, and SYNGAP. Interviews with parents and physicians will be conducted, and summarized in a case series publication.
Inclusion criteria:
Age: Children 0-17 years old Genetic diagnoses: STXBP1, SLC6A1, or SYNGAP
Medication: Current or prior use of phenylbutyrateTo participate: Contact Dr. Kristen Barbour, at kkbarbour@health.ucsd.edu
-
The Danish Epilepsy Centre is conducting an observational study to understanding the potential benefits and/or side effects of phenylbutyrate for STXBP1 and SLC6A1, for patients with current or prior use of phenylbutyrate. Families can complete a data request, or be interviewed.
To participate: Contact Cathrine Elisabeth Gjerulfsen, MD at caet@filadelfia.dk
-
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and analysis of biomarkers in cerebrospinal fluid. These patients will be followed up for 3 years. The aim of the study is, knowing the baseline phenotype, to analyse the response to commonly used drugs and to anticipate the response to different drugs available on the market in this group of patients based on clinical and biomarker assessment (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).
Site: Spain (Madrid)
More information: https://clinicaltrials.gov/study/NCT06356233
Observational Studies
An observational study is a type of study that observes an individual or group without any intervention or treatment. This section includes natural history and registry studies, as well as other observational studies.
Natural History Studies and Registries
A natural history study looks at how a disease changes over time in a patient population. 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 several natural history studies and registries, 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.
If you experience any issues with registering or have a comment to share, please email naturalhistory@stxbp1disorders.org.
| Study | Focus | What's Involved | Who Can Participate |
|---|---|---|---|
| STARR | Prospective medical and cross-symptom | Clinical visit and set of surveys every 6 months (in clinic) | Residents of US, Canada, and Mexico |
| 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 |
| Citizen Health | Health records | One-time form to complete, plus updates to medical providers | US - Citizen Health will request records. Global, medical records can be uploaded; must be in English |
-
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.
Sites: USA (CO, NY, PA, TX)
To learn more about the STARR study, please click here.
You can also find information on the STARR Study on clinicaltrials.gov (NCT06555965).
-
RARE-X is a data collection program which asks general questions on all body systems in a “head to toe” survey. Follow up surveys ask more detailed questions on identified symptoms from 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.
RARE-X is also being used for the caregiver surveys in the STARR natural history study.
Sites: Remote, International
More information: https://rare-x.org/
How to participate: https://www.stxbp1disorders.org/rare-x
-
Simons Searchlight is a study, funded by the Simons Foundation, that aims to collect natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism.
Sites: Remote, International
More Information:http://simonssearchlight.org
How to Participate: Click here to learn more and join.
-
Citizen Health is a natural history study that utilizes information collected in electronic medical records. It requires no in-person visits or phone calls. In the US, Citizen Health will collect records for participants. In other countries, medical records must be obtained by the participant and uploaded; records must be in English.
Sites: Remote, International
More Information:
https://www.citizen.health/How to participate:
https://www.citizen.health/partners/stxbp1-foundation -
The STXBP1 Foundation has partnered with COMBINEDBrain for our biorepository program. Families can provide biosamples, which are important tools for researchers to advance STXBP1 research.
More information: https://stxbp1disorders.org/biorepository -
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.
Site: Canada (Remote)
More Information:https://www.stxbp1.ca/
How to Participate: Email stxbp1.registry@ubc.ca or Call 1 604 875 2121
-
The European STXBP1 Consortium (ESCO) has established a European patient registry to support better understanding the underlying biology of STXBP1-RD and to identify disease markers of severity and to eventually follow-up treatment effects.
More information: https://stxbp1eu.org/esco-patient-registry/ -
The National Brain Gene Registry aims to learn more about genes that are involved in brain development and behavior. We have a large list of genes we are interested in and STXBP1 is on that list! It is a completely remote study that involves two virtual meetings: an initial consent/registration meeting and a telehealth appointment with the research coordinators. There will also be some additional surveys for the parents to complete. All of these assessments will particularly help with reclassifying variants of uncertain significance to benign or pathogenic and generally learning more about this rare disorder to influence potential management options.
Sites: USA (Remote)
More information: https:/braingeneregistry.wustl.edu/ or email ataylor4@childrensnational.org
-
This study is exploring whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.
Site: Belgium (Antwerp)
How to Participate: Contact Dr. Hannah Stamberger (https://weckhuysenlab.sites.vib.be/en)
-
NYU Langone researchers are recruiting from across multiple rare genetic epilepsies, including STXBP1, with the aim to help improve care and clinical trial outcomes.
If your child has had video EEGs and/or you can submit videos of seizures captured on your cell phone, you can participate. The study also includes surveys (in English).
The videos will be used to better understand and identify different types of seizures, then create educational materials.
Sites: Remote, International
More information: https://www.stxbp1disorders.org/blog/new-observational-study-on-seizure-or-seizure-like-movements-nownbsprecruiting
How to participate: ontact their Research Coordinator, Kim Nguyen, by email at Kim.Nguyen2@nyulangone.org or phone at 646-558-0842
-
Dr. Constance Smith-Hicks at Kennedy Krieger Institute is recruiting children and adults with STXBP1 who have had previous overnight/24-hour EEGs or polysomnograms to study the relationship between sleep, behavior, and cognition.
Site: Remote
To Participate: Emily Schneider
phone: 667-205-4381
email: schneiderej@kennedykrieger.org -
COMBINEDBrain has launched a Validation Study of the The Observer Reported Toileting Abilities Survey (ORTAS). They are looking for participants to help test a 30-minute online survey on toileting abilities in individuals with neurodevelopmental disorders (NDD). The survey covers questions about a person’s diagnosis, symptoms, treatments, and ability to toilet independently, or not. Survey is open to all but currently only available in English at this time.
They are looking to recruit 200 participants, including:
Caregivers of individuals with NDD
Caregivers of neurotypical children (ages 1-6) as controls
Adults with NDD
Your input will contribute to research on this important aspect of daily life.
Sites: Remote, International (English only)
More Information: Flyer
How to Participate: Email COMBINEDBrain at ORTAS@combinedbrain.org
-
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, which are monogenic diseases causing both movement disorders and epilepsy.
STXBP1 is one of many disorders included in this observational study. The study is open to patients 0-18 years old.
Sites: Boston Children’s Hospital
More Information: https://clinicaltrials.gov/study/NCT06585605
How to Participate: Email movementdisorders@childrens.harvard.edu