A Phase 1 interventional study of Nicotinamide Mononucleotide (NMN) Nucleosidase in DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG and Congenital Disorder of Glycosylation, sponsored by Eva Morava-Kozicz. Recruiting at 1 site in United States. Open to participants aged 4 Years and older. Per ClinicalTrials.gov, last updated 2026-06-22.
Sponsored by Eva Morava-Kozicz · Phase 1, Interventional, and Treatment
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.
This is a small cohort, off label treatment study assessing the safety, and tolerability of the over-the-counter supplement, nicotinamide mononucleotide (NMN) in individuals with heterozygous DHDDS-CDG. There is no treatment currently available for this progressive disease and there is evidence that this supplement may be a viable supportive therapy. This study will assess the safety and tolerability of this supplement, as well as examine NMN's effect on clinical manifestations of DHDDS-CDG, including gait abnormalities and hand tremor. This phase 1, open-label study will have a 4 week run-in period, a treatment period of 6 months during which the participants will take 250 mg NMN daily, and an optional extension period of 6 more months. Study assessments will involve physician assessments, lab tests, physical exams, vital signs, height/weight measurements, participant goal-setting, and tests to assess gait performance and hand tremor.
Eva Morava-Kozicz is the lead sponsor of 4 studies on the registry; 3 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Subject has any of the following:
Concomitant use of the following medications that could interact with orally administered NMN:
Participants will take 250mg NMN daily.
Drug: Nicotinamide Mononucleotide (NMN) Nucleosidase
Name: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administration: Oral
Incidence of adverse events (AEs)
Incidence of AEs will be collected throughout the treatment period and optional long-term safety follow up period.
Time frame: up to 12 months
International Cooperative Ataxia Rating Scale (ICARS) Score
Change in ICARS score from baseline to end of the treatment period (6 months) and long term follow up (12 months). The minimal score is 0 and the maximum score is 100, with a higher score indicating greater impairment as a result of ataxia.
Time frame: Baseline, 6 months, 12 months
Composite gait stability score (Cord walking test performance)
Cord walking performance will be quantified using a standardized video-based computer vision pipeline applied to semi-structured recordings of participants walking along a straight line. Markerless pose estimation algorithms will extract time-resolved body keypoints, from which predefined gait and postural metrics will be derived, including step width variability, step length consistency, lateral deviation from the walking path, and trunk instability (e.g., standard deviation of body lean). Each metric will be summarized per recording and combined into a composite gait stability score using a prespecified algorithm. Change from baseline to 6 and 12 months will be calculated as within-subject differences in these quantitative measures, enabling objective assessment of gait abnormalities over time.
Time frame: Baseline, 6 months, 12 months
Composite tremor severity score (Archimedes spiral test performance)
Archimedes spiral test performance will be quantified using standardized digital analysis of recorded spiral drawings. Video or image inputs will be processed to extract the drawn trajectory, and quantitative features of tremor and motor control will be computed, including line deviation from an ideal spiral template, tremor amplitude (spatial variability), frequency of oscillations, and drawing smoothness (e.g., velocity and jerk metrics). These features will be aggregated into a composite tremor severity score using a predefined scoring framework. Change from baseline to 6 and 12 months will be assessed as within-subject differences in these quantitative metrics, providing an objective measure of hand tremor severity and progression.
Time frame: Baseline, 6 months, 12 months
Plan to share: No — As this is an ultra rare disease, sharing IPD would involve risk of identification of participants.
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Congenital Disorders of Glycosylation
Eva Morava-Kozicz