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Gene Therapy

Cohort 3b for NGLY1 Deficiency

Phase 1 & 2

Recruiting

Research Sponsored by Grace Science, LLC

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Patients must be 2 to 18 years of age, inclusive, at the time of signing the informed consent form (ICF)

Patients with a confirmed diagnosis of NGLY1 Deficiency based on detection of biallelic pathogenic variants in the NGLY1 gene via commercially available molecular genetic sequencing

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 5 years (multiple visits)

Awards & highlights

Study Summary

This trial is studying a gene replacement therapy for children and teenagers with NGLY1 Deficiency. The therapy will be given through a single injection into the brain. The study will gradually increase the dose

Who is the study for?

This trial is for children and teenagers aged 2 to 18 with a rare genetic condition called NGLY1 Deficiency. Participants must meet certain health standards, which are not specified here.Check my eligibility

What is being tested?

The study tests GS-100 gene therapy given once directly into the brain's ventricles (ICV) to see if it's safe and effective in treating NGLY1 Deficiency. It gradually increases doses among participants.See study design

What are the potential side effects?

Since specific side effects aren't listed, they may include typical gene therapy reactions like immune response to the vector, headache or discomfort from ICV administration, and potential unknown risks.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am between 2 and 18 years old and can sign the consent form.

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I have been diagnosed with NGLY1 Deficiency through genetic testing.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 5 years (multiple visits)

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~5 years (multiple visits)

This trial's timeline: 3 weeks for screening, Varies for treatment, and 5 years (multiple visits) for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Alanine aminotransferase (ALT)

Albumin (g/dL)

Alkaline phosphatase (ALP)

+26 more

Secondary outcome measures

Assessment of NGLY1 and capsid-specific cellular immunity by enzyme-linked immunosorbent spot (ELISpot) on peripheral blood mononuclear cells (PBMC)

Change from baseline at 52 weeks in Bayley Scales of Infant and Toddler Development 4th Ed (BSID-4) for the Cognitive, Language, and Motor scales

Change from baseline at 52 weeks in Caregiver Global Impression of Severity (CaGI-S)

+12 more

Trial Design

6Treatment groups

Experimental Treatment

Group I: Cohort 3bExperimental Treatment1 Intervention

2-5 years old (High dose GS-100)

Group II: Cohort 3aExperimental Treatment1 Intervention

13-18 years old, then 6-12 years old (High dose GS-100)

Group III: Cohort 2bExperimental Treatment1 Intervention

2-5 years old (Mid dose GS-100)

Group IV: Cohort 2aExperimental Treatment1 Intervention

13-18 years old, then 6-12 years old (Mid dose GS-100)

Group V: Cohort 1bExperimental Treatment1 Intervention

2-5 years old (Low dose GS-100)

Group VI: Cohort 1aExperimental Treatment1 Intervention

13-18 years old, then 6-12 years old (Low dose GS-100)

0 / 2Eligibility criteria met

Find a Location

Who is running the clinical trial?

Grace Science, LLCLead Sponsor

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are individuals currently eligible to apply for participation in this ongoing medical study?

"As per the information available on clinicaltrials.gov, this specific clinical trial is not actively seeking new participants. The trial was initially posted on January 31st, 2024 and last updated on December 29th, 2023. However, it's important to note that there are currently six other trials actively recruiting candidates at this time."

Answered by AI

Is the inclusion criteria for this research study limited to individuals below the age of 50?

"To be eligible for this medical research study, applicants must fall within the age range of 2 to 18 years old. Among the available trials, there are specifically 4 trials targeting patients under the age of 18 and an additional 3 trials focusing on individuals aged over 65."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency

2024. "Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT06199531.

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