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Evaluate the Effect of Oral GlcNAc Supplementation in Patients With NGLY1 Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05402345
Recruitment Status : Not yet recruiting
First Posted : June 2, 2022
Last Update Posted : January 13, 2023
Sponsor:
Information provided by (Responsible Party):
Eva Morava-Kozicz, Mayo Clinic

Brief Summary:
This study is a multicenter randomized, double-blind, placebo-controlled trial of GlcNAc supplementation for improvement of tear production in NGLY1-CDDG.

Condition or disease Intervention/treatment Phase
NGLY1 Deficiency Drug: GlcNAc-GlcN Other: Placebo Phase 1

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 4-86 weeks . A final visit for evaluation and collection of lab samples will be conducted at the end of the study.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 16 participants
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Triple (Participant, Care Provider, Investigator)
Primary Purpose: Treatment
Official Title: Evaluate the Effect of Oral GlcNAc Supplementation in Patients With NGLY1 Deficiency
Estimated Study Start Date : May 2023
Estimated Primary Completion Date : June 2024
Estimated Study Completion Date : June 2024


Arm Intervention/treatment
Experimental: GlcNAc
GlcNAc eye drops
Drug: GlcNAc-GlcN
GlcNAc eye drops

Placebo Comparator: Placebo
Placebo eye drops
Other: Placebo
Placebo eye drops




Primary Outcome Measures :
  1. 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.



Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05402345


Contacts
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Contact: Alexandra Miller 507-284-5467 miller.alexandra@mayo.edu

Sponsors and Collaborators
Eva Morava-Kozicz
Investigators
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Principal Investigator: Eva Morava-Kozicz, MD, PhD Mayo Clinic
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Responsible Party: Eva Morava-Kozicz, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT05402345    
Other Study ID Numbers: 19-005270
First Posted: June 2, 2022    Key Record Dates
Last Update Posted: January 13, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases