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Assessing the Safety and Tolerability of NMN in DHDDS-CDG
Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
Who can join
Ages 4 and older · All sexes
Full eligibility criteria
Inclusion Criteria: * Subject is ≥ 4 years old * Subject has biologically and genetically proven heterozygous DHDDS-CDG. * Subject/legally authorized representative (LAR) is able to understand and provide written informed consent, and assent (as applicable) to participate in this study. Exclusion Criteria: * Subject has intellectual disability with IQ\<52 (moderate or lower IQ intellectual disability). * In the site Principal Investigator's opinion, subject has a history of intolerance to NMN or other niacin metabolite supplement that precludes the subject from participation in this study. * Subject has any of the following: * Liver failure * ALT level \>5x ULN * AST level \>5x ULN * eGFR \< 30 OR creatinine \>180 mmol/L * Subject is pregnant. * Use of investigational compounds within the previous 6 months or current enrollment in another trial involving investigational compounds. * Concomitant use of the following medications that could interact with orally administered NMN: * Aspirin * Metformin * Statins or other cholesterol-lowering drugs * In the site Principal Investigator's opinion, subject is not able or willing to comply with the trial requirements.
About the study
The primary objective of this study is to evaluate the safety and tolerability of the dietary supplement, nicotinamide mononucleotide (NMN), in individuals with dehydrodolichol diphosphate synthase congenital disorder of glycosylation (DHDDS-CDG). This will to contribute to knowledge that will allow healthcare providers to make informed decisions about recommending this dietary supplement in this population.
What is being tested
- Nicotinamide Mononucleotide (NMN) Nucleosidase (drug)
Sponsor: Eva Morava-Kozicz · Participants: 8 · Started: May 8, 2026
Contact the study team
- Georgia MacDonald, MS, CGC · Phone: 646-946-6923
Official record on ClinicalTrials.gov — NCT07572825
Locations in the U.S.
| New York | Icahn School of Medicine at Mount Sinai, New York |
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.