Natural History Study
A longitudinal study to understand HNRNP-Related Neurodevelopmental Disorders. In collaboration with University of Calgary, Columbia University, University of Sheffield, and the Simons Searchlight/Weldon Center.
What is a Natural History Study?
A natural history study describes how a condition develops and changes over time. The HNRNP-RNDDs are distinct disorders with clinical traits unique to each gene but also with substantial overlap between genes.
Since the first HNRNP-RNDDs were identified less than a decade ago, there is still much to learn about how they might progress and what therapies may be helpful. For any potential trials and/or therapeutics, we will first need to understand the HNRNP-RNDDs naturally.
What are the goals of the study?
Short-term goals:
- Identify HNRNP-RNDD genotype and symptom commonality (Genotype-Phenotype Correlations) Establish clinical care guidelines
- Create understanding of "natural" course of HNRNP-RNDDs
- Develop clinical findings to improve care for individuals
Long-term goals:
- Identify and select clinical endpoints for potential future therapy approvals
- We need data to get drug companies interested in therapies. We need to know what clinical aspects will improve or worsen
- Use data to financially support our families to attend conferences
How will this data be used?
Publications — Scientific papers and publications to share findings with the research community.
Clinical Guidelines and Gene Translations — Help clinicians understand how to diagnose and manage HNRNP-RNDDs.
Get Clinical Trial Ready! — Prepare for potential future clinical trials and therapeutic interventions.
Is my data safe?
YES! Your privacy is very important to us!
- Data will be used only for FDA quality development of our research and managed in a private, secure, encrypted way
- All data is de-identified
- Any publishing generated from this data will be unidentifiable to the family
Join the Registry
Start by joining our family registry. This is your first step to being part of the research community.
Join RegistryGet Signed Up
Send your genetic report to Dr. Maddie (maddie@hnrnp.org) 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!
Wait for Activation
You will receive an email from Geneial to set up and activate your account. Be sure to look in your spam folder!
Sign the Consent Form
Sign into Geneial Platform in App or Web Login. Once you sign, you will wait for our team to counter sign the consent form. Then, you're all set!
Confirm Information and Begin!
Confirm your information and begin taking surveys in the Geneial platform!
Finish all the surveys!
You will receive weekly reminders from Geneial, make sure to check your spam folder!
Ready to move HNRNP-RNDD research forward?
Your participation helps advance our understanding and brings us closer to better treatments.
Simons Searchlight is available in English, Dutch, French, German, Italian, Portuguese, and Spanish. Their surveys cover much of the same information as the ones in Geneial.
We're working to make our tools available in your language.