Clinical trials are where the rubber meets the road, scientifically.
It’s the crucial step of determining whether earlier research (basic and translational) is able to show the same therapeutic benefits in people.
The following are clinical trials currently underway or preparation stages.
If you would like more information about any of these, or about other earlier-stage research underway, contact us at Contact@CureSanfilippoFoundation.org.
Clinical Trials: Gene Therapy
EGT-101 Gene Therapy | Type IIIA | Phase I-II | Esteve
EGT-101 is Esteve's potential first-in-class AAV-9 gene therapy that is administered via a one-time intracerebroventricular injection into the cerebrospinal fluid. EGT-101 consists of an AAV9 vector containing the human sulfamidase (SGSH) transgene and it aims to...
ABO-101 Gene Therapy Transfer | 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 Transfer | Type IIIA | Phase I-II | Abeona
Self-complementary adeno-associated virus serotype 9 carrying the human SGSH gene under the control of a U1a promoter (scAAV9.U1a.hSGSH) will be delivered one time through a venous catheter inserted into a patient's peripheral limb vein. A tapering course of...
LYS-SAF302 Gene Therapy | Type IIIA | Phase II-III | Lysogene
LYS-SAF302 is a gene therapy by Lysogene which is intended to deliver a functional copy of the SGSH gene to the patient's brain. This is a phase 2-3 study to assess the efficacy in improving or stabilizing the neurodevelopmental state of MPS IIIA patients. 20 patients...
Clincal Trials: Enzyme Replacement
SOB-103 Enzyme Replacement | Type IIIA | Phase I-II | Sobi
The aims of the present study is to assess the dose related safety, tolerability, PK and PD of SOBI003, a chemically modified recombinant human (rh) Sulfamidase developed as an enzyme replacement therapy (ERT). This is an open-label, non-controlled, parallel,...
BMN-250 Enzyme Replacement | Type IIIB | Phase I-II | Biomarin/Allievex
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 assessed by the...
Clincal Trials: Stem Cell Therapy
Modified Autologous Hematopoietic Stem Cells | Type IIIA | Phase I-II | Orchard Therapeutics
This study is the first in-human clinical trial to explore the safety, tolerability, and clinical efficacy of ex vivo gene therapy (autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene) in MPSIIIA patients. This study aims to...
Clincal Trials: Substrate Reduction Therapy
Open-label Study of Anakinra | Type IIIA, B, C, D | Phase II-III | Lundquist
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.Decreasing...