Ongoing Clinical Trials for Mucopolysaccharidosis III
There are currently 3 clinical trials ongoing for Mucopolysaccharidosis III (also known as Sanfilippo syndrome, MPS IIIA). These studies are evaluating new gene therapy and enzyme replacement approaches to address this rare genetic disorder that affects the body’s ability to break down certain complex sugars, leading to progressive neurological symptoms. Trials are being conducted in Spain and Germany.
Clinical trial locations
- Germany
- Spain
Long-term safety study of rebisufligene etisparvovec gene therapy in patients previously treated for Mucopolysaccharidosis type IIIA
This study is designed to monitor patients who have already received an experimental gene therapy treatment called rebisufligene etisparvovec (also known as ABO-102 or UX111). The therapy was administered through an injection into the bloodstream and is designed to help the body produce a missing enzyme that is crucial for breaking down certain complex sugars.
Who can participate: The trial is open to patients between 2 and 11 years old who have previously participated in a clinical trial where they received UX111. Participants must have a confirmed diagnosis of Mucopolysaccharidosis type IIIA. Parents or legal guardians must be willing to provide informed consent and ensure their child attends all scheduled study visits.
Who cannot participate: The study excludes patients who have had a hematopoietic stem cell transplantation, those participating in another clinical trial within 30 days before enrollment, anyone with serious medical conditions that could interfere with the study, those with known allergies to the study medication, pregnant or breastfeeding individuals, and those who have undergone major surgery or have surgery planned during the study period.
Study focus: The main goal is to assess the long-term safety and effectiveness of the gene therapy treatment. Researchers will monitor participants through various tests including cognitive development assessments, evaluation of communication skills, collection of spinal fluid samples to measure heparan sulfate levels, and brain imaging to track changes in brain volume. The study will continue until August 2027.
Investigational treatment: The study focuses on monitoring the long-term effects of ABO-102, a gene therapy that uses a modified virus to deliver a working copy of the SGSH gene to cells, helping the body produce the enzyme needed to break down complex sugars.
Study of Weekly Infusions of JR-441 for Patients with Mucopolysaccharidosis Type IIIA
This trial is testing a new medication called JR-441, which is administered through weekly intravenous infusions. JR-441 is a freeze-dried substance prepared for injection that uses a protein targeting specific receptors in the body to help manage the symptoms of this condition.
Who can participate: Patients between 1 and 18 years old can join this study. They must have a confirmed diagnosis of Mucopolysaccharidosis type IIIA, including evidence of low activity of the SGSH enzyme, normal activity of at least one other enzyme, and specific genetic changes in the SGSH gene. Participants must weigh at least 10 kilograms and be in stable health. Patients or their legal representatives must sign a written consent form.
Who cannot participate: The study has exclusion criteria, though specific details were not provided in the source material. Generally, patients must be able to follow study requirements including travel without causing undue difficulty. If a patient uses hearing aids, they should use them as much as possible, especially during developmental and learning tests.
Study focus: The primary purpose is to evaluate the safety of JR-441 and explore its effectiveness in managing symptoms. Throughout the study, participants will undergo regular monitoring including checks for any adverse events, changes in laboratory tests, vital signs, heart function, and periodic assessments of cognitive function and adaptive behavior. The study will continue until January 2030.
Investigational treatment: JR-441 is administered through weekly infusions and is currently in Phase I/II clinical trials. It works as an enzyme replacement therapy, targeting and breaking down the accumulated substances in the body that cause symptoms.
Study on the Safety and Effectiveness of Rebisufligene Etisparvovec for Patients with Mucopolysaccharidosis Type IIIA
This clinical trial is evaluating UX111 (also known as ABO-102), a gene therapy treatment designed to help the body produce the N-sulfoglucosamine sulfohydrolase protein, which is missing in people with this condition. The therapy is administered through an injection into a vein.
Who can participate: Patients must have a confirmed diagnosis of Mucopolysaccharidosis type IIIA, verified by two methods: a blood test showing no detectable or very low activity of the SGSH enzyme, and a genetic test showing specific mutations in the SGSH gene. Age requirements vary by study group: some groups accept patients from birth to 2 years old, or older than 2 years with a certain level of cognitive development; another group accepts patients from 3 months to 2 years old; and some cases may include patients between 2 and 5 years old with lower cognitive development. For certain groups, vaccination status must be up to date according to country guidelines.
Who cannot participate: The study excludes patients with any serious medical condition that might interfere with the study, those with recent infections that could affect participation, patients currently taking medications that might interfere with the study treatment, those who have participated in another clinical trial recently, patients with a history of allergic reactions to similar treatments, those unable to comply with study procedures, and patients with conditions that study doctors believe would make participation unsafe.
Study focus: The study aims to evaluate the safety and effectiveness of UX111 in treating this condition. Participants will be monitored for any side effects and changes in certain substances related to the disease. The effectiveness will be measured by changes in cerebrospinal fluid components such as heparan sulfate and gangliosides, as well as cognitive and communication development using standardized assessments. The trial is expected to conclude by July 2027.
Investigational treatment: UX111 (ABO-102) is a gene therapy product that uses a modified virus to deliver a healthy copy of the SGSH gene to patients’ cells, enabling the production of the missing enzyme and potentially improving symptoms and slowing disease progression.
Summary
The three ongoing clinical trials for Mucopolysaccharidosis III demonstrate a focused research effort on innovative therapeutic approaches for this rare genetic disorder. Two of the three trials are being conducted in Spain, both evaluating the same gene therapy product, rebisufligene etisparvovec (ABO-102/UX111), with one focusing on initial safety and effectiveness and the other on long-term follow-up of previously treated patients. The third trial, conducted in Germany, is exploring a different approach using JR-441, an enzyme replacement therapy administered through weekly infusions.
All three trials target type IIIA of the condition, which is caused by deficiency of the SGSH enzyme. The studies share common goals of assessing safety and measuring effectiveness through various markers including cognitive development, cerebrospinal fluid components, and overall neurological function. The trials accept pediatric patients, though age ranges vary, reflecting the progressive nature of the condition and the importance of early intervention.
These trials represent important advances in developing treatments for a condition that currently has no cure, offering hope for patients and families affected by this challenging disorder.