NMN in DHDDS-CDG: is this safe and tolerable for people with DHDDS-CDG?

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a small, open-label Phase 1 study enrolling individuals with heterozygous DHDDS-CDG to receive 250 mg of NMN daily for up to 12 months (with a 4-week run-in, a 6-month treatment period, and an optional 6-month extension). The trial will monitor safety through physician assessments, lab tests, vital signs, and organ function, and will explore effects on gait and hand tremor as potential disease-related manifestations. Participants and clinicians will set goals and track changes, providing preliminary signals about tolerability and any clinical impact. There are strict eligibility criteria to include subjects aged 4 and older with confirmed heterozygous DHDDS-CDG and exclude those with significant organ dysfunction, pregnancy, or recent use of investigational therapies.

Why it matters

Who can join: the full rules

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.

Where it's running

• Icahn School of Medicine at Mount Sinai
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Eva Morava, MD, PhD — Icahn School of Medicine at Mount Sinai
• Study coordinator: Georgia MacDonald, MS, CGC
• Email: Georgia.macdonald@mssm.edu
• Phone: 646-946-6923

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Investigating congenital disorders of glycosylation

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.