GlcNAc supplementation to improve tear production in NGLY1 deficiency
Official title: A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect Of GlcNAc On Tear Production In Individuals With NGLY1-CDDG
Run by Icahn School of Medicine at Mount Sinai · NCT05402345 · Data updated 2026-05-14
This study is no longer in our active list. It may have stopped recruiting or finished. The details below are as of 2026-05-14 and are kept for reference. Check ClinicalTrials.gov for its current status, or see similar studies below.
This study is testing if a dietary supplement called GlcNAc can help people with NGLY1 deficiency produce more tears and protect their eyes.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Ages | 1 Year to 60 Years |
| Sex | All |
| Enrollment | 18 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 2 sites (Philadelphia, Pennsylvania and 1 other locations) |
| Trial ID | NCT05402345 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals aged 1 to 60 years with a molecularly confirmed diagnosis of NGLY1-CDDG.
✕Probably not a fit
Patients who do not have a confirmed diagnosis of NGLY1-CDDG or are outside the age range of 1 to 60 years may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This multicenter, randomized, double-blind, placebo-controlled trial investigates the effects of GlcNAc, a dietary supplement, on tear production in patients with NGLY1-CDDG, a condition that impairs tear production and can lead to eye damage. Eligible participants, aged 1 to 60 years with a confirmed diagnosis of NGLY1-CDDG, will undergo a washout period if previously on GlcNAc before being randomized to receive either GlcNAc or a placebo for 6 weeks. Following this, all participants will receive open-label GlcNAc for an additional 6 weeks, with evaluations and lab sample collections at specified intervals.
Why it matters
Potential benefit: If successful, this treatment could significantly improve tear production and eye health in patients with NGLY1 deficiency.
How similar studies have gone: While this approach is novel in the context of NGLY1 deficiency, similar studies using dietary supplements for other conditions have shown promising results.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Previously molecularly confirmed NGLY1-CDDG * Between the ages of 1 year old to 60 years old * 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. * Non-pregnant, non-lactating female subjects of childbearing potential who are heterosexually active must agree to use a highly effective method of contraception for the duration of the study. A highly effective method of birth control is defined as one that results in a low failure rate (i.e., \<1% per year) when used consistently and correctly, such as oral/injectable/inserted/implanted/transdermal contraceptives, condom with diaphragm, condom with spermicide, diaphragm with spermicide, intrauterine hormone- releasing system, or intrauterine device (IUD), or sexual abstinence. Contraception is not required where at least 6 weeks have passed since sterilization, defined as females having undergone one of the following surgeries: hysterectomy, bilateral tubal ligation or occlusion, bilateral oophorectomy, or bilateral salpingectomy; and males who are vasectomized. Contraception is not required where females are postmenopausal (defined as 12 consecutive months of spontaneous amenorrhea and age ≥51 years).. 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
Where it's running
-
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States Recruiting -
Seattle Children's Hospital
Seattle, Washington, United States Recruiting
Study contacts
- Principal investigator: Eva Morava-Kozicz, MD, PhD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Mary Freeman, MS, CGC
- Email: mary.freeman@mssm.edu
- Phone: 212-659-1434
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.