Natural History Study
A longitudinal study to understand HNRNP-Related Neurodevelopmental Disorders.
In collaboration with University of Calgary, Columbia University Medical Center, University of Sheffield, and the Greater Baltimore Medical Center, we have launched our natural history study!
The study will be longitudinal, meaning that we will collect data over time. This will help us in understanding how individuals with HNRNP-RNDDs develop as they age.
The study will be remote and in person. To participate remotely, we have partnered with the company Geneial. They have developed a smartphone app and
desktop app for entering information into our natural history study.
This allows families to enter data whenever they want. Additionally, we are using a highly curated survey looking at specific HNRNP-RNDD questions.
This study is combining three studies! See details below!
What is a Natural History Study?
A natural history study follows and documents individuals with rare diseases over their lifetime. This allows researchers to see the course of disease.
Some questions that might be answered by a natural history study are:
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What does a disorder look like over time?
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Are there changes in the disorder with age?
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Are there biomarkers that can predict if a disease will improve or worsen?
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Who has these disorders
Data will be collected retrospectively and prospectively. Retrospective studies collect information from the past. Prospective studies collect information moving forward. Both approaches help us better understand the HNRNP-RNDD community.
Goals of the Natural History Study
Short term:
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Identify HNRNP-RNDD patients and expand our community
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Gain an understanding of features of HNRNP-RNDDs
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Identify what existing therapeutics have been effective
Long term:
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Identify and validate clinical endpoints for potential future therapy approval. We must identify things that can change in response to a therapeutic. We need to have a clinical trial ready cohort for any future clinical trials.
How will this data be used?
Publications
This includes GeneReviews and Case/Cohort studies.
This allows for engagement from more members in the clinical and scientific communities! It also provides resources for families to share with their doctors.
Establishment of Clinical Guidelines and Care Practices
Right now there is no agreed upon method for treating individuals with HNRNP-RNDDs, we're going to change that so every family is met with knowledgable guidance.
We will also identify clinicians for the HNRNP-RNDD International Network. These doctors will be top locations for HNRNP-RNDD patients to be seen.
Get Clinical Trial Ready!
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Is my data safe?
YES! Your privacy is very important to us!
Geneial has received multiple NIH grants for development of their encrypted, private platform. Everything is stored in safe, password protected ways.
All data is de-identified.
Any publications generated from this data will be made available to families!
How does it work?
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1. Send genetic report to our Research Director, Dr. Maddie Gillentine or sign up below.
We have to confirm your variant to include you in the study. Then we can invite you to the Geneial platform!
2. Wait for the activation email
Geneial will email you a link to set up your account.
4. Confirm any information in Geneial is correct and start taking surveys!
3. Sign the Consent form in the Geneial app
Once you sign, you will wait for our team to countersign the consent forms, then you're ready to go!
*A note on consent forms:
those who are seen in person will have to consent separately with Dr. Jennifer Bain's team at Columbia with a quick zoom/phone call
Some individuals may need to consent with Dr. Meena Balasubramanian's team at University of Sheffield as well.
Ready to move HNRNP-RNDD research forward?
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Simons Searchlight is available in English, Dutch, French, German, Italian, Portuguese, and Spanish! They have many of the same questions.
We are working on translating our questions! If you want to help translate, let us know!
