Assessing the Safety and Tolerability of NMN in DHDDS-CDG
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Nicotinamide Mononucleotide (NMN) Nucleosidase.
- Who it may be relevant to
- Registry conditions: DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation. Basic parameters: from 4 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
Overview
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.
Interventions
- Drug Nicotinamide Mononucleotide (NMN) Nucleosidase
Name: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administration: Oral
Primary outcome measures
- Incidence of adverse events (AEs) [Time frame: up to 12 months]
Secondary outcome measures (3)
- 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]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
United States · 1 center
- Icahn School of Medicine at Mount Sinai — New York
Identifiers
NCT: NCT07572825 · STUDY-25-01520