A Study of GlcNAc on Tear Production in NGLY1-CDDG
- Registration Number
- NCT05402345
- Lead Sponsor
- Eva Morava-Kozicz
- Brief Summary
In patients with NGLY1-CDDG, the disorder can lead to eye damage due to not being able to produce enough tears. This study is being done to see if the dietary supplement, GlcNAc, improves tear production in patients with NGLY1-CDDG.
- Detailed Description
This study is a multicenter randomized, double-blind, placebo-controlled trial of GlcNAc supplementation for improvement of tear production in NGLY1-CDDG. Clinical history and screening data will be reviewed to determine subject eligibility. If a subject is already on GlcNAc, a washout period of 1 month will be required prior to consent and randomization. Interested subjects who have a molecularly confirmed diagnosis of NGLY1-CDDG will be consented. Baseline data will be collected prior to randomization at treatment initiation. Subjects will then be randomized to placebo or GlcNAc. They will be administered weight-dependent doses of GlcNAc or an equivalent volume of placebo enterally for 6 weeks, followed by open label weight-dependent doses of GlcNAc for 6 weeks. A visit for evaluation and collection of lab samples will be conducted at 6 and 12 weeks.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 18
- Previously molecularly confirmed NGLY1-CDDG
- Parent or legal guardian available to provide consent on behalf of minor subjects or adult subjects who are unable to give informed consent due to developmental disabilities. Willingness of subject or legal guardian to provide consent.
Exclusion Criteria
- Hypersensitivity to any of the components of the placebo
- History of treatment with GlcNAc within 28 days of Visit 1
- Participation in another therapeutic trial - the subject will not be permitted to participate in any other drug trial during the blinded phase and during the 28 days prior to Visit 1
- Shellfish allergy
- Planned eye surgery within 3 months of enrollment
- • Females that are pregnant, nursing or less than 6 months postpartum or attempting to conceive
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description GlcNAc GlcNAc-GlcN GlcNAc powder Placebo Placebo Placebo xylose
- Primary Outcome Measures
Name Time Method Difference in tear production from baseline in placebo vs GlcNAc group 6 weeks The primary endpoint of the study is the difference in tear production from baseline in individuals with NGLY1-CDDG between the placebo and the GlcNAc group after 6 weeks of blinded therapy, as measured by Schirmer II test which is a tool that helps assess the amount of tears in the eyes.
- Secondary Outcome Measures
Name Time Method Frequency of eye redness needing treatments 6 weeks, 12 weeks Patient/family reported frequency of eye redness after 6 weeks of blinded therapy and at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Frequency of light sensitivity 6 weeks, 12 weeks Patient/family reported frequency of light sensitivity after 6 weeks of blinded therapy and at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Difference in tear production from baseline 12 weeks Difference in tear production, as measured by Schirmer II test, at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Frequency of eye infections needing treatments 6 weeks, 12 weeks Patient/family reported number of eye infections needing treatment in last month after 6 weeks of blinded therapy and at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Frequency of eye tearing/watering 6 weeks, 12 weeks Patient/family reported frequency of eye tearing/watering after 6 weeks of blinded therapy and at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Frequency of wind sensitivity 6 weeks, 12 weeks Patient/family reported frequency of wind sensitivity after 6 weeks of blinded therapy and at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Trial Locations
- Locations (2)
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States