Evaluate the Effect of Oral GlcNAc Supplementation in Patients With NGLY1 Deficiency
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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
Drug: GlcNAc-GlcNOther: Placebo
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.
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.
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Layout table for eligibility information
Ages Eligible for Study:
2 Years to 18 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
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.
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