The Natural History Study
A natural history study follows a group of people over time who have a specific disease, collecting health information in order to understand how the disease develops and changes and how to diagnose and treat it better.
The Glut1 Deficiency Foundation has developed a natural history study to help understand the individual experiences of people who have this disease so researchers can better understand its impact on patients and how that may change over time. These insights will be critical for developing new and better ways to diagnose and treat Glut1 Deficiency.
you are the experts.
you can best tell the story of Glut1 Deficiency.
PATIENT POWERED RESEARCH
By enrolling in the NHS, you will:
FAQ - Natural History Study
Natural history studies collect information on how a disease affects a person over time. If the disease is rare, the collected data is especially valuable and can lead to new understandings, breakthroughs, and treatments. Natural history studies are important pieces in developing clinical trials to test new treatments to see how they may be changing the course of a disease. They also help give a more accurate count of the number of people who have been diagnosed with a disease.
The Glut1 Deficiency Natural History Study is a secure database that uses standardized surveys to collect ongoing information about the life-long experiences of Glut1 Deficiency patients.
With rare conditions like Glut1 Deficiency, it is vital that we share information about genetic mutations, symptoms, the different treatments and therapies and how they’ve impacted patients. This information will enable researchers to discover patterns and clues that could lead to breakthroughs and more effective ways to manage or cure this disease.
The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research.
Matrix is a technology platform created by Jason Colquitt as a philanthropic arm of his company Across Healthcare. It is built by a rare disease patient (Jason) to help rare disease communities collect the critical pieces of information needed to run patient registries and natural history studies and to enable researchers to look at similarities across diseases.
Learn more at www.acrossmatrix.com
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders is devoted to speeding the path to clinical treatments for people with severe rare genetic neurodevelopmental disorders by pooling efforts, studies, and data. COMBINEDBrain is a non-profit consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.
Learn more at www.COMBINEDBrain.org
The data collected will help researchers and families learn more about Glut1 Deficiency and how the disease changes over time.
- patients and families will know more about what to expect at different ages
- healthcare teams will know more about helping manage and treat the disease
- researchers will learn details to better understand disease mechanisms and help lead to new discoveries and advances
- future clinical trial opportunities and information can be shared with patients and families who may qualify
The Glut1 Deficiency Natural History Study is open to individuals from any location in the world with a confirmed Glut1 Deficiency diagnosis and/or their caregivers. Diagnosis may be confirmed by genetic testing results and/or lumbar puncture results.
The Glut1 Deficiency Foundation, in partnership with Matrix and COMBINEDBrain, has created a customized health information portal for Glut1 Deficiency patients and caregivers to easily capture, track and share information related to symptoms, activities, medications, and electronic health records.
Patients and caregivers from around the world can enroll online and create an account in the Matrix portal. Once enrolled, you can begin taking surveys and entering information about the patient’s Glut1 Deficiency experiences.
We are initially using brief, standardized, and validated Clinical Genome Resource (ClinGen) general health surveys so meaningful research can be conducted not only on Glut1 Deficiency, but also across different diseases as well under the larger COMBINEDBrain umbrella study. These ClinGen surveys cover all body systems and may help capture previously unknown symptoms of Glut1 Deficiency.
Eventually, we plan to add more specific Glut1 Deficiency surveys and set up hospital sites to collect clinic data from healthcare providers that can be combined with the information provided by patients and families in order to create a more complete picture of Glut1 Deficiency experiences.
There may be additional components added to the Natural History Study in the future, including biorepository samples, interviews, video recordings and apps, and other outcome measures you may see listed in the Informed Consent process. You may return to the Informed Consent document and change permissions at any time.
The Glut1 Deficiency Natural History Study will utilize the CRID system (Clinical Research ID) to assign unique identifiers to patient data that protects their identify. It can also link different sources of data about the same patient in an anonymous, de-identified way from the patient and family surveys, the clinical data entered by healthcare professionals, and also to patient samples in the biorepository if available.
You will be prompted to enter your CRID number under the Additional Patient ID’s survey in the Surveys/Studies section on the patient dashboard.
Please visit www.theCRID.org to create an account and generate your own unique CRID number. This number is yours and will only be shared if and when you choose to share it.
Matrix is currently best utilized on a desktop, although enhanced mobile capabilities are under development.
Updating surveys is extremely important so that there is not just a snapshot in time of patient experiences, but rather a natural history that tells the story of Glut1 Deficiency across the lifespan and shares insights on how the disease changes over time. Surveys that need to be completed or updated will automatically appear in your Matrix account under your patient dashboard. Most will be repeated annually.
The Glut1 Deficiency Natural History Study Matrix platform and surveys are currently available in English, Spanish, Italian, French, and German. We want to include as many of our Glut1 Deficiency families from around the world as possible in this important project, so Matrix will continue to add more languages as these survey translations become available. We have received a Health Equity Grant from Global Genes to help with the translation project.
The Glut1 Deficiency Natural History Study is hosted on the Matrix platform and conforms to all standards and best practices, has robust safety and security measures, and is compliant with HIPAA and GDPR regulations. Learn more in the Informed Consent or by visiting www.acrossmatrix.com.
The Glut1 Deficiency Foundation will oversee the study. Only trained and credentialed staff from the Glut1 Deficiency Foundation and the Matrix technology support team will have access to any identifying data and only for administrative management purposes for the study.
Patients and caregivers own their own data and can share it with others any time they want – doctors, dietitians, teachers, family members, etc. They can also withdraw from the study or change any of the permission settings on the Informed Consent at any time.
Learnings from the study will be shared back with the community through regular reports and snapshots, but only in a de-identified way. Researchers and clinicians who want to learn more about Glut1 Deficiency patient experiences may be granted access to the de-identified and consolidated data through a formal request and screening process managed by a governing board. Learn more in the Informed Consent process.
The governing board will be comprised of a Steering Committee, with two members appointed from the Glut1 Deficiency Foundation, two from Matrix/Across Healthcare, and one from COMBINEDBrain.
Members from the Glut1 Deficiency Foundation:
- Sandra Ojeda, PhD: Science Director
- Glenna Steele: Executive Director
- use it as a personal health monitoring tool
- utilize tools and features that make managing daily care easier
- share health information easily with others
Symptoms and Activities Tracker
- track symptoms and activities on the platform, including seizure activity, movement episodes, medication or diet changes, ketone levels, doctor or therapy appointments, and more!
- use an existing favorites list or create your own symptoms and activities list to track those that are meaningful and important to you
- graphs can be created with multiple activities and symptoms to look for patterns and possible correlations
- log medications, dosages, and refill dates
- text and email notifications for medication administration and refill reminders
Important Document Storage and Organization
- upload your documents for easy organization and access - medical records, IEP’s, evaluations, medication lists, physician contact list, guardianship, etc.
- documents can be shared as PDF files with healthcare providers, other caregivers, and anyone you'd like to have them
- keep notes and written narratives of important information such as changes in eating or sleep, unusual behaviors, parent-teacher interactions, or any other things you want to remember
- keep a list of questions for the next doctor appointment
- find important documents, forms, and information from the Glut1 Deficiency Foundation to help with natural history study participation or make day to day care easier
- find announcements and details about clinical trial opportunities
- download and share any information you've entered into Matrix (your own personal health data) with anyone you'd like
- two-way communication with the Glut1 Deficiency Foundation
- a safe, secure, and private way to share information and questions
NATURAL HISTORY STUDY
Quick Start Guide
Use this easy reference to help you get started using your power to shape the future for Glut1 Deficiency patients.
Create your CRID
Create your own unique Clinical Research ID (CRID) number. This will allow researchers to link your natural history data to any biosamples you've donated to the biorepository. The CRID keeps your identify private.
Create an account on Matrix.
Upload the genetic report and/or lumbar puncture test results to confirm your diagnosis (in the documents section).
Complete the surveys.
Fill out all surveys listed in your account dashboard under surveys and studies, including putting your CRID number in the additional patient ID’s survey.
Turn on notifications.
Turn on notifications in settings to be notified when you have messages or new surveys (under the person icon in top right corner).