You can accelerate drug development in Sanfilippo

(Sanfilippo Syndrome - MPS III)

Important research records are trapped in hospitals across the country. As a result, drug 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.

Questions? Check out our FAQ
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.
Mens Health Magazine
Mens Health Magazine
Village Global
Village Global

Who’s involved?

Cure Sanfilippo Foundation
Cure Sanfilippo Foundation
RDMD Research for Sanfilippo is approved and monitored by an independent ethics review board called WIRB (Western Institutional Review Board). WIRB is a group of people who review research studies to protect the rights and welfare of human subjects. They provide in-depth regulatory expertise to support development of research protocols and documentation.Read more.

Why join the Sanfilippo program?

Key benefits for you:

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

Your dashboard
Your dashboard

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 Syndrome - MPS III.

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

Clinical trials for Sanfilippo

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.

Join the Sanfilippo program

Tracking 8 trials

BioMarin PharmaceuticalBy invitation only

A Treatment Extension Study of Mucopolysaccharidosis Type IIIB

UniQure Biopharma B.V.Active, not recruiting

Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome

Swedish Orphan BiovitrumRecruiting

A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients

Abeona Therapeutics, IncRecruiting

Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

Abeona Therapeutics, IncRecruiting

Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB


Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)

BioMarin PharmaceuticalRecruiting

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Centogene AG RostockRecruiting

Biomarker for Sanfilippo Type A-B-C-D Disease Sanfilippo Type A-B-C-D [MPS III]

See for more information

Our values & principles.

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.

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.

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.

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.

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.

How we got started

“Patients shouldn’t be bystanders in drug development.”

– Onno Faber (Founder of RDMD)

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.

– Onno

Onno FaberPhoto Credit: from by Damien Maloney

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.

  • Jumpstart
  • Accelerate
  • Insights

The Sanfilippo program is in the jumpstart stage.

Be part of research