NGLY1 DeficiencyPhase 2NCT05402345
A Study of GlcNAc on Tear Production in NGLY1-CDDG
A Phase 2 study testing GlcNAc-GlcN in people with NGLY1 Deficiency, run by Eva Morava-Kozicz at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 60 years
- Conditions the study is for
- NGLY1 Deficiency
- What is being tested?
- GlcNAc-GlcN
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 18 participants
- Where
- 2 sitesUnited States
- Study dates
- 24 Jan 2025to Dec 2027
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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)..
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Seattle Children's Hospital
Seattle, Washington, 98105
About this study
Official title: A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect Of GlcNAc On Tear Production In Individuals With NGLY1-CDDG
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.
Read the 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.
- Conditions
- NGLY1 Deficiency
- Being tested
- GlcNAc-GlcN, Placebo
- Medical subject headings
- NGLY1 deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GlcNAc-GlcNDrug
GlcNAc powder - weight-dependent dose
PlaceboOther
Placebo xylose
| Study group | Role | What they receive |
|---|---|---|
| GlcNAc | Experimental | GlcNAc powder Receives: Drug: GlcNAc-GlcN |
| Placebo | Placebo comparator | Placebo xylose Receives: Other: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 weeks
Secondary outcomes (6)
Frequency of eye infections needing treatments
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.
Measured: 6 weeks, 12 weeks
Frequency of eye redness needing treatments
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.
Measured: 6 weeks, 12 weeks
Frequency of eye tearing/watering
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.
Measured: 6 weeks, 12 weeks
Frequency of light sensitivity
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.
Measured: 6 weeks, 12 weeks
Frequency of wind sensitivity
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.
Measured: 6 weeks, 12 weeks
Difference in tear production from baseline
Difference in tear production, as measured by Schirmer II test, at 12 weeks after 6 weeks of open-label administration of GlcNAc.
Measured: 12 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2022
- Study start24 Jan 2025
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NGLY1 DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Investigator
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eva Morava-Kozicz
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
- Investigators
- Eva Morava-Kozicz, MD, PhD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05402345
- Sponsor's protocol ID
- CHOP 23-020868
- Other IDs
- 8404
- Status last verified
- Sep 2026
- First submitted
- 28 May 2022
- Last updated
- 29 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect Of GlcNAc On Tear Production In Individuals With NGLY1-CDDG
- ClinicalTrials.gov ID
- NCT05402345
- Acronym / sponsor ID
- CHOP 23-020868
- Conditions
- NGLY1 Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Eva Morava-KoziczUniversity, hospital or other
- Collaborators
- Children's Hospital of Philadelphia, Seattle Children's Hospital
- Study start
- 24 Jan 2025 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 2 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind (participant, care provider, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| GlcNAc | Experimental | Drug: GlcNAc-GlcNGlcNAc powder |
| Placebo | Placebo comparator | Other: PlaceboPlacebo xylose |
Who may qualify
- Ages
- 1 year to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- 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)..
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GlcNAc-GlcNGlcNAc powder - weight-dependent dose | Drug | GlcNAc |
| PlaceboPlacebo xylose | Other | Placebo |
Primary outcome
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.
6 secondary outcomes
Frequency of eye infections needing treatments
Time frame: 6 weeks, 12 weeks
Frequency of eye redness needing treatments
Time frame: 6 weeks, 12 weeks
Frequency of eye tearing/watering
Time frame: 6 weeks, 12 weeks
Frequency of light sensitivity
Time frame: 6 weeks, 12 weeks
Frequency of wind sensitivity
Time frame: 6 weeks, 12 weeks
Difference in tear production from baseline
Time frame: 12 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Eva Morava-Kozicz, MD, PhD principal investigator
Icahn School of Medicine at Mount Sinai
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing GlcNAc-GlcN in people with NGLY1 Deficiency, run by Eva Morava-Kozicz at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 29 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in tear production from baseline in placebo vs GlcNAc group (time frame: 6 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2026.