Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
Eva Morava-Kozicz
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.
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…
Eligibility
- Age range
- 4+ years
- Sex
- All
- Healthy volunteers
- No
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.…
Interventions
- DrugNicotinamide Mononucleotide (NMN) Nucleosidase
Name: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administration: Oral
Location
- Icahn School of Medicine at Mount SinaiNew York, New York