Assessing the Safety and Tolerability of NMN in DHDDS-CDG

NCT07572825 | Not Yet Recruiting Phase 1 FDA Drug

• 1 other identifier: STUDY-25-01520
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

DHDDS-Congenital Disorder of Glycosylation; DHDDS-CDG; Congenital Disorder of Glycosylation

Outcome Measures

Primary Outcomes (1)

• Incidence of adverse events (AEs)

  Incidence of AEs will be collected throughout the treatment period and optional long-term safety follow up period.

  up to 12 months

Secondary Outcomes (3)

• International Cooperative Ataxia Rating Scale (ICARS) Score

  Baseline, 6 months, 12 months

• Composite gait stability score (Cord walking test performance)

  Baseline, 6 months, 12 months

• Composite tremor severity score (Archimedes spiral test performance)

  Baseline, 6 months, 12 months

Study Arms (1)

nicotinamide mononucleotide (NMN)

EXPERIMENTAL

Participants will take 250mg NMN daily.

Drug: Nicotinamide Mononucleotide (NMN) Nucleosidase

Interventions

Nicotinamide Mononucleotide (NMN) Nucleosidase DRUG

Name: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administration: Oral

nicotinamide mononucleotide (NMN)

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Eva Morava-Kozicz: lead

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

MeSH Terms

Conditions

Congenital Disorders of Glycosylation

Interventions

NMN nucleosidase

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Eva Morava, MD, PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Georgia MacDonald, MS, CGC

CONTACT

646-946-6923; Georgia.macdonald@mssm.edu

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 1, 2026
• First Posted: May 7, 2026
• Study Start (Estimated): June 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: May 7, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)