Patient Resources
Information about NALCN Channel-related disorders can be found in this Fact Sheet from the New South Wales Center for Genetics Education.
PATIENT-DRIVEN RESEARCH
The more data we can provide researchers, the greater chance we have at reaching our vision - a world without the complications of NALCN-related diseases. Below are the current platforms to contribute data. We have made every effort to limit duplication across the platforms, and each serves a very important purpose to our NALCN research roadmap.
I. CridID
Sign up for a CridID so all data can be linked across research platforms while keeping your information de-identified. Detailed steps are here. Each of the next steps will ask for your CridID.
II. Patient Registry
This very short survey helps us to report our numbers to researchers and pharmaceutical companies.
III. RareX Data Collection Platform
This platform collects genetic report details and responses to surveys based on symptoms in NALCN patients.
Contribute to RareX at https://rare-x.org/nalcn/. These resources will help you get started:
- Webinar Launch:
- Data Sharing: When signing up, you will be asked what data you want to be made available to researchers. Here are Channeling Hope's recommendations:
- Questions and troubleshooting: Email your questions to rarexsupport@globalgenes.org and cc science@channelinghope.org.
IV. Coming soon... Natural History Studies
With support from Citizen Health, we will soon be collecting patient histories to understand the trajectory of untreated NALCN-related diseases. This will enable a retrospective natural history study.
Later this year, we will launch a prospective natural history study to follow patients' through their disease progression.
Natural history studies are needed to design clinical trials and answer questions about the success of the trials.
CONTACT OTHER PATIENT FAMILIES:
We are grateful to the families that started support groups before the Channeling Hope Foundation was created. These Facebook groups are not managed by Channeling Hope, but can be a resource to families for support and information.
NALCN Gene Flaw Family Support Group
The following WhatsApp community is a resource to families for support and information. To be invited, please email us and give us your phone number including the country code.
NALCN Families
CLIFAHDD Syndrome
IHPRF Type 1 & 2
The following resources are connections we have made that you might find helpful:
Once Upon a Gene is a blog and podcast about her family's journey through life with rare disease.
