GC1130A for Sanfilippo Syndrome

Recruiting at 7 trial locations

Overseen By GC Biopharma Corp.

Age: < 65

Sex: Any

Trial Phase: Phase 1

Sponsor: GC Biopharma Corp

Must not be taking: Investigational drugs

Disqualifiers: CNS impairment, MRI contraindications, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 3 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: Unknown

Duration: 104 weeks

9 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new treatment called GC1130A (also known as rhHNS) for individuals with Sanfilippo Syndrome Type A. The main goal is to determine the safety and effectiveness of administering this treatment directly into the brain using a special device. Researchers have organized participants into three groups to explore various aspects of the treatment. Individuals with a confirmed diagnosis of Sanfilippo Syndrome Type A, aged 1 to 18, may be eligible to join. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive it.

Will I have to stop taking my current medications?

The trial protocol does not specify if you need to stop taking your current medications. However, if you have taken any investigational drug or device for MPS IIIA within 30 days or 5 half-lives before the study, you may not be eligible to participate.

Is there any evidence suggesting that GC1130A is likely to be safe for humans?

Research has shown that the treatment under study, GC1130A, has undergone previous testing and is generally well-tolerated. In earlier studies where it was administered through the spine, patients tolerated it well over extended periods. However, no evidence indicated that it could slow the decline in brain function.

As this is an early-stage trial for GC1130A, the primary focus is on safety. Researchers are assessing how well patients tolerate the treatment and monitoring for any side effects. It is important to note that the treatment is still under study, so complete safety information is not yet available. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Researchers are excited about GC1130A for Sanfilippo Syndrome because it offers a novel approach compared to current enzyme replacement therapies and gene therapies. Unlike existing treatments, which focus on supplementing or modifying the enzyme production, GC1130A targets the underlying genetic mutation more precisely, potentially leading to more effective outcomes. This could mean improved management of symptoms and a better quality of life for patients with Sanfilippo Syndrome.

What evidence suggests that GC1130A might be an effective treatment for Sanfilippo Syndrome?

Research has shown that GC1130A, a treatment for Sanfilippo Syndrome Type A, could be beneficial for this rare condition. Sanfilippo Syndrome occurs when the body lacks sufficient heparan N-sulfatase, leading to the accumulation of harmful substances. GC1130A is a version of this enzyme, designed to help break down these substances. Early results from similar enzyme treatments have demonstrated symptom improvements and slower disease progression. Although research on GC1130A continues, it operates in a manner that has proven successful in other enzyme therapies. Initial studies on its safety and tolerability are promising, suggesting potential benefits for patients. Participants in this trial will join one of the experimental cohorts to evaluate the effects of GC1130A. ^{1 2 4 6 7}

Are You a Good Fit for This Trial?

This trial is for young children aged 2 to 6 years with a confirmed diagnosis of Sanfilippo Syndrome Type A (MPS IIIA), which is a rare genetic condition affecting brain function.

Inclusion Criteria

I have been diagnosed with MPS IIIA.

I am between 2 and 6 years old.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive recombinant human heparan N-sulfatase (rhHNS, GC1130A) via intracerebroventricular access device

104 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• GC1130A

Trial Overview The study tests GC1130A, an experimental medication intended to replace a missing enzyme in patients. It's given directly into the brain fluid through a special device to see if it's safe and effective.

How Is the Trial Designed?

Group I: Cohort 3 Experimental Treatment 1 Intervention

Group II: Cohort 2 Experimental Treatment 1 Intervention

Group III: Cohort 1 Experimental Treatment 1 Intervention

GC1130A is already approved in United States, European Union, Japan for the following indications:

Approved in United States as GC1130A for:

• Sanfilippo Syndrome Type A (MPS IIIA) - Investigational

Approved in European Union as GC1130A for:

• Sanfilippo Syndrome Type A (MPS IIIA) - Investigational

Approved in Japan as GC1130A for:

• Sanfilippo Syndrome Type A (MPS IIIA) - Investigational

Who Is Running the Clinical Trial?

GC Biopharma Corp

Lead Sponsor

Trials

10

Recruited

660+

Novel Pharma Inc.

Collaborator

Trials

1

Recruited

9+

Published Research Related to This Trial

Schaaf-Yang Syndrome (SYS) is caused by mutations in the MAGEL2 gene and is characterized by a range of symptoms including intellectual disability, autism spectrum disorder, and feeding problems, as observed in a study of 78 patients.

The severity of symptoms in SYS may vary based on the specific mutation, indicating a potential genotype-phenotype relationship that could aid in genetic counseling for affected families.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Schaaf-Yang syndrome overview: Report of 78 individuals. McCarthy, J., Lupo, PJ., Kovar, E., et al.[2021]

The infant diagnosed with Schaaf-Yang syndrome (SYS) was found to have a novel heterozygous frameshifting variant in the MAGEL2 gene (c.1908delG), which was not present in either parent, indicating a de novo mutation.

This genetic variant likely disrupts the function of the MAGEL2 protein, contributing to the pathogenesis of SYS, and adds new information to the known mutations associated with this condition.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene]. Gong, J., Jiang, Z., Hu, W., et al.[2023]

A 1-year-and-9-month-old boy with Schaaf-Yang syndrome exhibited growth retardation and other unusual features, leading to genetic testing that identified a novel pathogenic variant in the MAGEL2 gene (c.3078dupG).

This variant was not found in either parent, indicating a de novo mutation, and it expands the known genetic variations associated with Schaaf-Yang syndrome, which may help in understanding the condition better.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Clinical and genetic analysis of a child with Schaaf-Yang syndrome]. Luo, J., Chen, X., Yao, H., et al.[2023]

In a study of 70 Brazilian patients with Noonan syndrome, six were found to have mutations in the RIT1 gene, confirming its role as a causative factor in about 10% of cases previously negative for known mutations.

Patients with RIT1 mutations often exhibit distinct features such as high birth weight and left ventricular hypertrophy, but most do not show significant intellectual disability, suggesting a unique phenotype that should be considered in genetic testing for Noonan syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Further evidence of the importance of RIT1 in Noonan syndrome. Bertola, DR., Yamamoto, GL., Almeida, TF., et al.[2020]

Whole exome sequencing identified two novel pathogenic variants in the ARID1B gene (c.5467delG and c.5584delA) in two Chinese families with Coffin-Siris syndrome, indicating a genetic basis for the condition.

These findings allow for improved genetic counseling and the possibility of prenatal diagnosis for affected families, enhancing their understanding and management of the syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. Xiang, Y., Wan, R., Li, H., et al.[2022]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT06567769

NCT06567769 | Phase 1 Study of GC1130A in Patients ... The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase ( ...

2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/34600820/

Long-term safety and clinical outcomes of intrathecal ... We evaluated the long-term safety, tolerability, and clinical outcomes of recombinant human heparan-N-sulfatase (rhHNS) administered intrathecally (IT) in ...

3. clinicaltrials.ucsf.edu clinicaltrials.ucsf.edu/trial/NCT06567769

GC1130A in Patients With Sanfilippo Syndrome Type A (MPS ... The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase ...

4. sciencedirect.com sciencedirect.com/science/article/pii/S1096719221007794

Long-term safety and clinical outcomes of intrathecal ... Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA (MPS IIIA) [1], affects approximately 0.00–1.62 infants per 100,000 live births [2].

5. curesanfilippofoundation.org curesanfilippofoundation.org/wp-content/uploads/2025/07/Clinical-Studies-Info-CureSanfilippoFoundation-072925.pdf

Clinical Studies in Sanfilippo syndromes This is an ongoing first in human study testing the safety and efficacy of gene therapy for. Sanfilippo Type A (MPS IIIA) in 6 children.

6. curesanfilippofoundation.org curesanfilippofoundation.org/2024/05/gc1130a-enzyme-replacement-mps-iiia/

GC1130A Enzyme Replacement | MPS IIIA | Phase I The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan ...

7. clinicaltrials.takeda.com clinicaltrials.takeda.com/study-detail/5f6b5fcf4db2bf003ab4680a

HGT-SAN-093 | Clinical Trial Summary The purpose of this study is to evaluate the safety and efficacy of recombinant human heparan-N-sulfatase (rhHNS) in pediatric patients with Early Stage ...