Accelerate drug development in Sanfilippo

Important research records are trapped in hospitals across the country. As a result, drug and gene therapy researchers can’t access the information they need to advance treatments.

But as a patient, you can. Unlock your records and contribute them to research, privately and securely.

RDMD

Questions? Check out our FAQ

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By joining the Sanfilippo program, you will help advance new research. If you know other patients or families who may be interested, you can help by sharing this link.
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Why join the Sanfilippo program

For the future

For the future

Help researchers get the information they need to advance development of new drug and gene therapies.

For the Sanfilippo community

For the Sanfilippo community

Jumpstart research and increase knowledge and understanding of Sanfilippo.

For you

For you

See all your records in one place. Track how you are contributing to research and be notified about new clinical trials.

How it works

Sign up

1. Sign up

Create your private account and review our research consent (takes about 10 minutes)

We get to work

2. We get to work

We do all the behind-the-scenes work to retrieve and process your records

Empower research

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

Be part of research

Questions? Check out our FAQ

Our values &
principles.

1
Patients own their data

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.

2
We protect patient privacy

We abide by a strict research consent and privacy policy. We only share de-identified data with researchers, foundations, and therapeutic companies with patients’ consent. Protecting the privacy of patients and ensuring the security of their information is our highest priority.

3
Researchers gain access

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.

4
Inclusiveness in the community

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.

5
Driving forward therapeutic development

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.

Who’s involved?

Cure Sanfilippo Foundation
Cure Sanfilippo Foundation

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 known as heparan sulfate. This causes devastating damage to the central nervous system over time. There are four subtypes of Sanfilippo Syndrome (types A, B, C, and D), depending on which enzyme is deficient in the patient. While most children with Sanfilippo are born with no signs of the condition, early in childhood they begin to have severe behavioral issues and developmental delay and regression. Many children also have additional symptoms such as sleeplessness, seizures, hearing loss, and gastrointestinal issues. Over time, children with Sanfilippo Syndrome experience severe cognitive 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. These are the current research projects we aim to complete in order to increase our understanding of Sanfilippo Syndrome (MPS III) and drive drug development and clinical trials.

  • Jumpstart
  • Accelerate
  • Insights

The Sanfilippo program is in the jumpstart stage.

Be part of research

Natural History Study

Since Sanfilippo Syndrome is so rare, it can be difficult to study how the disease progresses over time. This is particularly true for the rare subtypes, Type C and Type D. It is important to understand how Sanfilippo Syndrome progresses over time and to understand how each subtype is similar to and different from one another. By studying this, researchers will learn how we can better prepare families for the future and learn about the different symptoms of Sanfilippo Syndrome that a new therapy needs to be able to treat.

  

Sanfilippo Treatment Outcomes

While there are currently no approved treatments for Sanfilippo Syndrome, some patients have tried investigational treatments such as enzyme replacement therapies or gene therapies. Tracking disease progression in these patients over time will help researchers understand what types of therapies might work best for Sanfilippo Syndrome in the future.

   

Genotype Study

Some patients with Sanfilippo Syndrome develop severe symptoms very early in life, while others have a milder disease course. Milder. Sometimes, the severity of Sanfilippo can vary even between two affected siblings. Why is this? By studying clinical information from the medical record and genetic data from patients, researchers might be able to pinpoint why there is variability in this disease and identify new ways to treat patients.