Current Clinical Trials & Studies for Sanfilippo

Page last updated: December 13, 2022

For web accessibility options: Click/tap the floating blue icon on the right.

Clinical trials and studies are where the rubber meets the road, scientifically.

Clinical trials for Sanfilippo are the crucial step of determining whether earlier research (basic and translational) shows the same therapeutic benefits in people.

Participation in observational studies and research surveys are opportunities to contribute to scientists’ understand of symptoms of Sanfilippo and how things change over time for the children. Participation also helps researchers develop new and improved outcome measures and more.

We do our best to keep the following list of clinical trials and studies for Sanfilippo up to date. However, we recommend periodically searching for “Sanfilippo” or “MPS III” on and in order for you to have the most-current information and to stay on top of newly-emerging clinical trial listings.

Contact us at if you would like more information about any of these clinical trial or other earlier-stage research underway.

Clinical Trials: Gene Therapy

EGT-101 Gene Therapy | MPS IIIA | Phase I-II | Esteve

Update: April 2021 This Phase 1/2 trial has now fully enrolled and is not accepting additional patients. We are hopeful that a Phase 3 trial will be initiated in the future but no timeline is currently available. Trial Information EGT-101 is Esteve's potential...

read more

Clincal Trials: Enzyme Replacement

DNL126 Enzyme Replacement | MPS IIIA | Phase I-II | Denali

Page last updated: February 19, 2024 Page reviewed by: Dr. Cara O'Neill, FAAP For web accessibility options: Click/tap the floating blue icon on the right.Clinical Trial Summary Study: “A Phase 1/2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability,...

read more

JR-441 Enzyme Replacement | MPS IIIA | Phase I-II | JCR

Page last updated: October 23, 2023 For web accessibility options: Click/tap the floating blue icon on the right. Trial Information Phase I/​II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA A Phase I/ II, open-label, randomized, 2-arm study,...

read more

Clincal Trials: Stem Cell Therapy

Clincal Trials: Other Treatment Strategies

Clincal Trials: Observational Studies/Natural History Studies

Inactive Clinical Trials

SOB-103 Enzyme Replacement | MPS IIIA | Phase I-II | Sobi

Update: April 27, 2021 Last year Sobi decided to halt development of this ERT program. The patients enrolled in the trial were provided access to drug for the full 2 years of the planned trial period. All patients have now completed the trial and transitioned off of...

read more

ABO-101 Gene Therapy | MPS IIIB | Phase I-II | Abeona

Page last updated: Feb. 23, 2024 Page reviewed by: Dr. Cara O'Neill, FAAP For web accessibility options: Click/tap the floating blue icon on the right.Summary Information Study Title: “Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for...

read more

All Research on Sanfilippo

Beyond clinical trials, there is basic and translational research (earlier-stage research) exploring multiple therapies about how to address the systemic impact and symptoms of Sanfilippo in order to improve the quality of life for a child with Sanfilippo. Learn more about the entire ecosystem of Sanfilippo reseach, as well as current scientific news.

Research Funded by Cure Sanfilippo Foundation

Cure Sanfilippo Foundation architects and funds promising research to accelerate discovery of a treatment or cure for Sanfilippo. Explore the research funded by the Foundation.

Learn more about the Foundation

We are the nation’s largest 501(c)3 nonprofit dedicated to advocating and funding research to bring about treatments and/or a cure for Sanfilippo Syndrome. Cure Sanfilippo has funded research grants around the world which has helped clinical trials get underway, treating children with Sanfilippo Syndrome. The Foundation creates and explores innovative and breakthrough research to ensure multiple promising paths are being explored in the effort to save children and better their quality of life.

Dr. Cara O’Neill, Chief Science Officer for the Foundation, meeting with researchers conducting important work regarding Sanfilippo in their lab to talk about progress and ideas.

Team working on Sanfilippo Syndrome caregiver preference study

Parents of children with Sanfilippo meeting to contribute to the Foundation’s work to create materials to help scientists and regulators better include the patient and caregiver perspective in research.