Page last updated: December 13, 2022
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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 ClinicalTrials.gov and ClinicalTrialsRegister.eu in order for you to have the most-current information and to stay on top of newly-emerging clinical trial listings.
Contact us at Contact@CureSanfilippoFoundation.org 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 | Type 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...
ABO-101 Gene Therapy | Type IIIB | Phase I-II | Abeona
Adeno-associated virus serotype 9 carrying the human NAGLU gene under the control of a CMV enhancer/promoter (rAAV9.CMV.hNAGLU) will be delivered one time through a venous catheter inserted into a patient's peripheral limb vein. A tapering course of prophylactic...
ABO-102 Gene Therapy | Type IIIA | Phase I-II | Ultragenyx
Page reviewed by: Dr. Cara O'Neill, FAAP Page last updated: July 29, 2022 For web accessibility options: Click/tap the floating blue icon on the right. The ABO-102 Gene Therapy uses a self-complementary adeno-associated virus serotype 9 carrying the human SGSH gene...
LYS-SAF302 Gene Therapy | Type IIIA | Phase II-III | Lysogene
Page reviewed by: Dr. Cara O'Neill, FAAP Page last updated: November 21, 2022 For web accessibility options: Click/tap the floating blue icon on the right. Update: Nov. 21, 2022 Lysogene recently issued a press released regarding their Type A gene therapy study. In...
Clincal Trials: Enzyme Replacement
SOB-103 Enzyme Replacement | Type 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...
BMN-250 Enzyme Replacement | Type IIIB | Phase I-II | Biomarin/Allievex
Trial Information The study's primary objectives are to evaluate the safety and tolerability of AX 250 administered to subjects with MPS IIIB via an ICV reservoir and catheter and to evaluate the impact of AX 250 on cognitive function in patients with MPS IIIB as...
Clincal Trials: Stem Cell Therapy
Modified Autologous Hematopoietic Stem Cells | Type IIIA | Phase I-II | Orchard Therapeutics
Page last updated: March 16, 2023 For web accessibility options: Click/tap the floating blue icon on the right.Trial Information This study is the first in-human clinical trial to explore the safety, tolerability, and clinical efficacy of ex vivo gene...
Clincal Trials: Substrate Reduction Therapy
Open-label Study of Anakinra | Type IIIA, B, C, D | Phase II-III | Lundquist
Trial Information Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported....
Clincal Trials: Observational Studies/Natural History Studies
A Natural History Study of Patients With Sanfilippo Disease(s) (MPS3) | Type IIIA, IIIB, IIIC, IIID | Observational Study | Lysosomal Center
Page last updated: January 31, 2023 For web accessibility options: Click/tap the floating blue icon on the right.Trial Information Lysosomal and Rare Disorders Research and Treatment Center, Inc. is conducting a natural history study of patients with Sanfilippo...
A Natural History Study of Sanfilippo Syndrome Type D (MPSIIID) | Type IIID | Observational Study | Phoenix Nest
Page last updated: December 13, 2022 For web accessibility options: Click/tap the floating blue icon on the right. Trial Information Phoenix Nest and National Institute of Neurological Disorders and Stroke (NINDS) are conducting a observational research study, which...
Natural History of Biomarkers & Clinical Outcomes | Type IIIA | Observational Study | Denali
Trial Information Denali Therapeutics is conducting a observational research study, which can also be called a natural history study, into Sanfilippo syndrome Type A (MPS IIIA). The purpose of the research study is to collect blood and behavioral information from...
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.
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.