Active — Not RecruitingPhase 3

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

United States10 participantsStarted 2024-02-13

Plain-language summary

A non-randomized, open-label, Phase 1/2/3 study of a single intracerebroventricular (ICV) administration of a gene replacement therapy (GS-100) in participants who are 2 to 18 years old with NGLY1 Deficiency.

Who can participate

Age range2 Years – 18 Years

SexALL

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Inclusion criteria

✓. Global developmental delay and/or intellectual disability
✓. Hyperkinetic movement disorder
✓. Transient elevation of transaminases
✓. (Hypo)alacrima
✓. Peripheral neuropathy

Exclusion criteria

✕. Blood pressure: values \> 99th percentile as cited in the National Heart, Lung and Blood Institute (NHLBI) guidelines for blood pressure levels based on subject's age, height and sex (nhlbi.nih.gov/files/docs/guidelines/child\_tbl.pdf)
✕. Temperature: evidence of fever such as body temperature (e.g., orally measured) of 38.0°C (100.3°F)
✕. Respiratory rate in breaths per minute: toddler (1-3 years old): 24-40; preschooler (4-5 years old): 22-34 breaths per minute; school-aged child (6-12 years old): 18-30 breaths per minute; adolescence (13-18 years old): 12-16.
✕. Oxygen saturation on room air \< 92%
✕. Hemoglobin level: \< 9 g/dL
✕. Absolute neutrophil count: \< 1000 cells/microliter
✕. Platelet count: \< 100,000/mm3
✕. Creatinine: \> 1.25 x ULN

What they're measuring

Phase 1/2 (Dose Finding): Safety and Tolerability of GS-100

Timeframe: Baseline through Week 52

Phase 3 (Pivotal): Efficacy of GS-100 at the Selected Dose

Timeframe: Baseline through Week 52

Trial details

NCT IDNCT06199531

SponsorGrace Science, LLC

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2027-03

View on ClinicalTrials.gov More NGLY1 Deficiency trials