Patient Centered Research
Families are at the center of how HNRNP-RNDD research gets done. Our Natural History Study is the largest way to take part, and it works alongside the family registry and Simons Searchlight. In collaboration with University of Calgary, Columbia University, University of Sheffield, and the Simons Searchlight/Weldon Center.
Join the family registry
The starting point for everything else. Registering takes about two minutes and tells us your family exists, which is the first thing researchers need to know.
Join the registryThe Natural History Study
Our largest research effort, and the one that takes the most from families. You complete standardized surveys over time in Geneial so researchers can see how these disorders actually develop.
How the study worksSimons Searchlight
A separate registry and survey program for many of the HNRNP genes, available in seven languages. Their surveys cover much of the same ground as ours.
About Simons Searchlight
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 your invitation from Geneial
After you register and opt in, our team creates your account on Geneial, our secure research partner. Watch your inbox, and your spam folder, for an email from Geneial.
Activate your account and sign the consent form
Use the invitation to activate your account, then sign in to Geneial through the app or the web. Review and sign the consent form. Our team counter-signs it, and then the surveys open up.
Confirm your 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, so 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.