GC1130A for Sanfilippo Syndrome

Recruiting at 4 trial locations

Overseen By GC Biopharma Corp.

Age: < 18

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

Trial Summary

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 the drug GC1130A a promising treatment for Sanfilippo Syndrome?

The provided research articles do not contain information about the drug GC1130A or its effectiveness for treating Sanfilippo Syndrome. Therefore, I cannot determine if GC1130A is a promising treatment based on the given data. ^{1 2 3 4 5}

What is the purpose of this trial?

The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device in pediatric patients with Sanfilippo Syndrome Type A (MPS IIIA).

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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]

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]

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]

References

1. China pubmed.ncbi.nlm.nih.gov

[Clinical and genetic analysis of a child with Schaaf-Yang syndrome]. [2023]

2. United States pubmed.ncbi.nlm.nih.gov

Schaaf-Yang syndrome overview: Report of 78 individuals. [2021]

3. China pubmed.ncbi.nlm.nih.gov

[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. [2022]

4. China 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]. [2023]

5. United States pubmed.ncbi.nlm.nih.gov

Further evidence of the importance of RIT1 in Noonan syndrome. [2020]