Why join the Sanfilippo program
Reduce the time for Sanfilippo Syndrome (MPS III) drug development
All your medical data in one place
Follow new clinical trials
Make your de-identified health information part of multiple research projects
For the future
Help researchers get the information they need to advance development of new drug and gene therapies.
For the Sanfilippo community
Jumpstart research and increase knowledge and understanding of Sanfilippo Syndrome (MPS III).
See all your records in one place. Track how you are contributing to research and be notified about new clinical trials.
How it works
1. Sign up
Create your private account and review our research consent (takes about 10 minutes)
2. We get to work
We do all the behind-the-scenes work to retrieve and process your records
3. Empower research
Track your contribution to research projects and, based on your records, find out if you qualify for new clinical trials based on your records
Stay in the loop. We’re monitoring Sanfilippo Syndrome (MPS III) clinical trials that may be interesting for patients. We can contact you if we find potentially matching trials, and keep you up to date if there are new trials or changes.
Our values & principles.
We believe that the only way to keep data accessible to the researchers who need it is by enabling patients to own and control their own data. Patients decide for themselves whether they want to privately and securely contribute to research, rather than having the decision made on their behalf.
We aim to make useful data accessible to all researchers who have legitimate research questions or research programs. For academic research, we offer access without charge. We take research ethics seriously, and we have policies in place to ensure that research is conducted with integrity.
We don’t like to take sides—we give all members of the community the option to get involved. Success in rare disease research takes a village and we always welcome additional collaborators who can advance and benefit from the mission.
Our primary mission is to accelerate drug development, so we prioritize generating insights specifically relevant to therapeutic research. We invest deeply in quality, security, and compliance to make this a reality.
How we got started
Four years ago, I started experiencing hearing loss in my left ear. Doctors prescribed me steroids, thinking it was an infection, but the deterioration did not slow down. After numerous failed treatments, a specialist finally ordered an MRI, whereupon he discovered a large tumor on my left hearing nerve. Months later, another tumor was discovered in my right hearing nerve, and another on my spine. I was diagnosed with a rare genetic disease called NF2 (Neurofibromatosis Type 2), a disease that affects only 1 in 30,000 people. It completely changed my perspective.
All my life, I’ve been a technology entrepreneur, beginning with a tech company I started in high school. I’m now applying everything I’ve learned throughout my career to build RDMD, where we’re helping to accelerate treatments for patients with rare disease. Our mission is ambitious, but I can’t imagine working on anything more important than this.
Our work with Sanfilippo research
Sanfilippo Syndrome, also known as mucopolysaccharidosis (MPS) type III, is a severe lysosomal storage condition that occurs when patients cannot break down long chains of sugar molecules (glycosaminoglycans) known as heparan sulfate. This causes devastating damage to the central nervous system. There are four subtypes of Sanfilippo Syndrome (types A, B, C, and D). Early in childhood, patients with Sanfilippo Syndrome experience severe behavioral issues and developmental delay and regression. Sanfilippo Syndrome can also cause sleeplessness, seizures, hearing loss, and gastrointestinal issues. Over time, patients severely decline and become bedridden and unable to communicate. Unfortunately, many Sanfilippo patients do not survive past their teenage years. There is currently no cure for Sanfilippo Syndrome.
RDMD drives research on your condition as well as research on general health and wellness.