DHDDS-Congenital Disorder of GlycosylationPhase 1NCT07572825
Assessing the Safety and Tolerability of NMN in DHDDS-CDG
A Phase 1 study testing Nicotinamide Mononucleotide (NMN) Nucleosidase in people with DHDDS-Congenital Disorder of Glycosylation and DHDDS-CDG, run by Eva Morava-Kozicz at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
- What is being tested?
- Nicotinamide Mononucleotide (NMN) Nucleosidase
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 8 May 2026to 1 Aug 2027
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Show all 14Show fewer
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Georgia MacDonald, 646-946-6923, Georgia.macdonald@mssm.edu
Eva Morava
About this study
Official title: Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
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.
Read the detailed description
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.
- Conditions
- DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
- Being tested
- Nicotinamide Mononucleotide (NMN) Nucleosidase
- Medical subject headings
- Congenital Disorders of Glycosylation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nicotinamide Mononucleotide (NMN) NucleosidaseDrug
Name: nicotinamide mononucleotide (NMN)
Form: measured powder
Dose: 250 mg/day
Frequency: Daily
Route of administration: Oral
| Study group | Role | What they receive |
|---|---|---|
| nicotinamide mononucleotide (NMN) | Experimental | Participants will take 250mg NMN daily. Receives: Drug: Nicotinamide Mononucleotide (NMN) Nucleosidase |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of adverse events (AEs)
Incidence of AEs will be collected throughout the treatment period and optional long-term safety follow up period.
Measured: up to 12 months
Secondary outcomes (3)
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.
Measured: 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.
Measured: 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.
Measured: Baseline, 6 months, 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 May 2026
- Study start8 May 2026
- Primary completion1 Aug 2027 (estimated)
- Study completion1 Aug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DHDDS-Congenital Disorder of GlycosylationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eva Morava-Kozicz
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
- Investigators
- Eva Morava, MD, PhD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07572825
- Sponsor's protocol ID
- STUDY-25-01520
- Status last verified
- Jun 2026
- First submitted
- 1 May 2026
- Last updated
- 22 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: As this is an ultra rare disease, sharing IPD would involve risk of identification of participants.
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
- ClinicalTrials.gov ID
- NCT07572825
- Acronym / sponsor ID
- STUDY-25-01520
- Conditions
- DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Eva Morava-KoziczUniversity, hospital or other
- Study start
- 8 May 2026 (actual)
- Primary completion
- 1 Aug 2027 (estimated)
- Study completion
- 1 Aug 2027 (estimated)
- First posted
- 7 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| nicotinamide mononucleotide (NMN) | Experimental | Drug: Nicotinamide Mononucleotide (NMN) NucleosidaseParticipants will take 250mg NMN daily. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (14 listed)
- 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:
- Subject is pregnant.
- Use of investigational compounds within the previous 6 months or current enrollment in another trial involving investigational compounds.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nicotinamide Mononucleotide (NMN) NucleosidaseName: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administration: Oral | Drug | nicotinamide mononucleotide (NMN) |
Primary outcome
Incidence of adverse events (AEs)
Time frame: up to 12 months
Incidence of AEs will be collected throughout the treatment period and optional long-term safety follow up period.
3 secondary outcomes
International Cooperative Ataxia Rating Scale (ICARS) Score
Time frame: Baseline, 6 months, 12 months
Composite gait stability score (Cord walking test performance)
Time frame: Baseline, 6 months, 12 months
Composite tremor severity score (Archimedes spiral test performance)
Time frame: Baseline, 6 months, 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2026.
- Individual participant dataSharing planned: No. As this is an ultra rare disease, sharing IPD would involve risk of identification of participants.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Eva Morava, MD, PhD principal investigator
Icahn School of Medicine at Mount Sinai
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Nicotinamide Mononucleotide (NMN) Nucleosidase in people with DHDDS-Congenital Disorder of Glycosylation and DHDDS-CDG, run by Eva Morava-Kozicz at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Georgia MacDonald, MS, CGC (646-946-6923, Georgia.macdonald@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of adverse events (AEs) (time frame: up to 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2026.