A Study of GlcNAc on Tear Production in NGLY1-CDDG

NCT05402345 | Active Not Recruiting Phase 2 FDA Drug

• 2 other identifiers: CHOP 23-0208688404
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 2

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.

Conditions

NGLY1 Deficiency

Outcome Measures

Primary Outcomes (1)

• Difference in tear production from baseline in placebo vs GlcNAc group

  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.

  6 weeks

Secondary Outcomes (6)

• Frequency of eye infections needing treatments

  6 weeks, 12 weeks

• Frequency of eye redness needing treatments

  6 weeks, 12 weeks

• Frequency of eye tearing/watering

  6 weeks, 12 weeks

• Frequency of light sensitivity

  6 weeks, 12 weeks

• Frequency of wind sensitivity

  6 weeks, 12 weeks

Study Arms (2)

GlcNAc

EXPERIMENTAL

GlcNAc powder

Drug: GlcNAc-GlcN

Placebo

PLACEBO COMPARATOR

Placebo xylose

Other: Placebo

Interventions

GlcNAc-GlcN DRUG

GlcNAc powder - weight-dependent dose

GlcNAc

Placebo OTHER

Placebo xylose

Placebo

Eligibility Criteria

• Age: 1 Year - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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)..

You may not qualify if:

• 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

Sponsors & Collaborators

• Eva Morava-Kozicz: lead
• Children's Hospital of Philadelphia: collaborator
• Seattle Children's Hospital: collaborator

Study Sites (2)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

MeSH Terms

Conditions

NGLY1 deficiency

Interventions

4-O-(N-acetylglucosaminyl)glucosamine

Study Officials

• Eva Morava-Kozicz, MD, PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 28, 2022
• First Posted: June 2, 2022
• Study Start: January 24, 2025
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: July 8, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)