A Study of GlcNAc on Tear Production in NGLY1-CDDG

• ClinicalTrials.gov Identifier: NCT05402345
• Recruitment Status: Not yet recruiting
• First Posted: June 2, 2022
• Last Update Posted: April 1, 2024
• Sponsor: Eva Morava-Kozicz
• Collaborators: Children's Hospital of Philadelphia; Seattle Children's Hospital
• Information provided by (Responsible Party): Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai

Tracking Information

• First Submitted Date: May 28, 2022
• First Posted Date: June 2, 2022
• Last Update Posted Date: April 1, 2024
• Estimated Study Start Date: May 2024
• Estimated Primary Completion Date: June 2025 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: March 25, 2024)

Difference in tear production from baseline in placebo vs GlcNAc group [ Time Frame: 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.

Original Primary Outcome Measures (submitted: May 28, 2022)

Difference in mL in tear production in placebo vs GlcNAc group [ Time Frame: 8 weeks ]

The primary endpoint of the study is the difference in tear production in individuals with NGLY1-CDDG between the placebo and the GlcNAc group after 4-8 weeks of blinded therapy, as measured by Schirmer test.

Current Secondary Outcome Measures (submitted: March 28, 2024)

• Frequency of eye infections needing treatments [ Time Frame: 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 redness needing treatments [ Time Frame: 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 eye tearing/watering [ Time Frame: 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 light sensitivity [ Time Frame: 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.
• Frequency of wind sensitivity [ Time Frame: 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.
• Difference in tear production from baseline [ Time Frame: 12 weeks ]
  Difference in tear production, as measured by Schirmer II test, at 12 weeks after 6 weeks of open-label administration of GlcNAc.

• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: A Study of GlcNAc on Tear Production in NGLY1-CDDG
• Official Title: A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect Of GlcNAc On Tear Production In Individuals With NGLY1-CDDG
• 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.
• Study Type: Interventional
• Study Phase: Phase 2
• Study Design: Allocation: Randomized; Intervention Model: Parallel Assignment; Masking: Triple (Participant, Care Provider, Investigator); Primary Purpose: Treatment
• Condition: NGLY1 Deficiency

Intervention

• Drug: GlcNAc-GlcN
  GlcNAc powder - weight-dependent dose
• Other: Placebo
  Placebo glucose powder

Study Arms

• Experimental: GlcNAc
  GlcNAc powder
  Intervention: Drug: GlcNAc-GlcN
• Placebo Comparator: Placebo
  Placebo glucose powder
  Intervention: Other: Placebo

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Not yet recruiting
• Estimated Enrollment (submitted: August 25, 2023): 18
• Original Estimated Enrollment (submitted: May 28, 2022): 16
• Estimated Study Completion Date: June 2025
• Estimated Primary Completion Date: June 2025 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

• 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 1 Year to 60 Years (Child, Adult)
• Accepts Healthy Volunteers: No

Contacts

Contact: Mary Freeman, MS, CGC; 212-659-1434; mary.freeman@mssm.edu

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT05402345
• Other Study ID Numbers: 23-020868; 8404 ( Other Identifier: FCDGC )
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: Yes
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
• Original Responsible Party: Eva Morava-Kozicz, Mayo Clinic, MD, PhD
• Current Study Sponsor: Eva Morava-Kozicz
• Original Study Sponsor: Same as current

Collaborators

• Children's Hospital of Philadelphia
• Seattle Children's Hospital

Investigators

• Principal Investigator: Eva Morava-Kozicz, MD, PhD; Icahn School of Medicine at Mount Sinai

• PRS Account: Icahn School of Medicine at Mount Sinai
• Verification Date: March 2024