Embedded Files
Patient-Facing Tools and Research Collaboration Platforms
April 2026 - Current
Introduction
Introduction
The MiSOF and CACNA1A Cure Path series are analytical research tools that produce findings and predictions. However, research that never reaches patients is incomplete.
The CACNA1A community- families managing rare disease, researchers at institutions that do not specialize in channelopathies, clinicians encountering a variant they have never seen, faces a structural information problem. Clinical trials exist that families can't find. Researchers at different institutions work on overlapping problems without knowing it. Plain-language summaries of the science, when they exist at all, are buried in academic jargon.
The CACNA1A Community Infrastructure series addresses those gaps. Through software, these projects connect trials to families, researchers to each other, and scientific findings to the people whose lives depend on them.
Cheers,
Angie X.
CACNA1A Community Infrastructure:
CACNA1A Community Infrastructure:
TrialNavigator:
TrialNavigator is a patient-facing clinical trial matching platform built specifically for CACNA1A disorders and expanded to 26 diseases in the Buffalo Initiative. It queries the ClinicalTrials.gov REST API, translates eligibility criteria into plain language, computes driving distances from a patient's location using Haversine geocoding, and provides a step-by-step eligibility wizard covering age, diagnosis, and variant matching. Trials are sorted by recruitment status, with actively recruiting studies at the top. The tool was built initially to ensure CACNA1A families knew about NCT07221292 (the most recent Phase III N-acetyl-L-leucine trial) and has since been registered as an official resource with NORD and Global Genes' Advocacy Alliance. It is embeddable on any patient organization website with a single line of HTML.
RareTrials:
RareTrials, although a separate project, is documented on the TrialNavigator page. This is because it extends the TrialNavigator infrastructure to 4,128 rare diseases drawn from Orphanet, NORD, and Global Genes: the structure is identical but the disease coverage is universal. A patient with a condition that has no CACNA1A connection can still use the same interface to find trials, check eligibility, and understand what each trial status means. The tool exists because 95 percent of rare diseases have no FDA-approved treatment, and for those that do, the primary enrollment barrier is awareness rather than willingness. RareTrials makes awareness into something that scales.
CavConnect:
CavConnect is a two-tier collaboration platform for the CACNA1A research network. The idea was conceived and pitched quite literally during a conversation I had with Dr. Pangkong Fox, the Science Director of the CACNA1A Foundation. The public tier of CavConnect provides plain-language summaries of recent CACNA1A research, an embedded TrialNavigator for families, and access to resources assembled by the CACNA1A Foundation. The research tier (password-gated and NDA-governed) provides a meeting archive, a pre-publication discussion forum, and an automated PubMed digest that surfaces new CACNA1A literature weekly. It was built in direct response to a request from Pangkong Fox at the CACNA1A Foundation, who described wanting a platform that served both the research network and the patient community without forcing them into the same space. The domain is cavconnect.org.
Pictured above: my first meeting with Dr. Pangkong Fox, the Science Director at the CACNA1A Foundation. Her insights gave me a good idea of where the CACNA1A Foundation was in terms of researcher collaboration and patient/family advocacy. Their incredible organization, work, and effort is truly unmatched. Funnily enough, I had actually first reached out to Vice President Sunitha Malepati a few weeks prior to this meeting (my first email to Dr. Fox had gone to her spam) with the TrialNavigator MVP and had a fruitful conversation with Mrs. Malepati, who then connected me back with Dr. Fox.
Closing Remarks
Closing Remarks
To truly solve anything, we must consider all of its aspects holistically. I staunchly believe that it's the duty of any sort of problem-solver in today's day and age. We can run whatever costly experiments and attend as many Nobel Prize ceremonies with other scientists, but if the work isn't communicated and benefiting the patients and the public- did we ever even solve the problem?
I built TrialNavigator and RareTrials because families that can't find a relevant trial are quite literally invisible to that trial's research team. CavConnect was built because researchers at different institutions who do not know each other's work are slower than researchers who do.
These are infrastructure problems with infrastructure solutions. The tools here are not the most scientifically complex work on this site, but they may be among the most directly useful to the people who need them today, before any of the therapeutic strategies in the Cure Path reach the clinic.
Until the answers arrive,
Angie X.
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