Nicotinamide Mononucleotide for Congenital Disorder of Glycosylation

This trial tests the safety of a dietary supplement called nicotinamide mononucleotide (NMN) for individuals with dehydrodolichol diphosphate synthase congenital disorder of glycosylation (DHDDS-CDG), a rare genetic condition affecting sugar processing in the body. The goal is to determine if NMN can be safely used by those with this condition, aiding doctors in treatment decisions. Participants will take a daily dose of 250mg NMN. Suitable candidates for this trial include individuals aged 4 or older with a confirmed diagnosis of DHDDS-CDG and no severe intellectual disability. As a Phase 1 trial, this research focuses on understanding how NMN works in people, offering participants the opportunity to be among the first to receive this treatment.

Yes, you will need to stop taking aspirin, metformin, and statins or other cholesterol-lowering drugs, as they could interact with the study supplement.

Previous studies have shown promising safety results for NMN (nicotinamide mononucleotide). Research indicates that a single oral dose of NMN was safe and well-tolerated in healthy men, with no significant harmful effects. Another study found that taking 1250 mg of NMN daily for up to four weeks did not cause any serious side effects. Additionally, studies on mice using NMN supplements showed no negative effects, supporting these findings. Overall, the available evidence suggests that NMN is generally safe and well-tolerated in humans.¹²³⁴⁵

Nicotinamide Mononucleotide (NMN) is unique because it targets the root cause of Congenital Disorder of Glycosylation by potentially enhancing cellular energy metabolism. Unlike the standard treatments that primarily manage symptoms, NMN aims to boost levels of NAD+, a crucial molecule for energy production in cells, which could address the underlying metabolic dysfunction. Researchers are excited about NMN because it offers a new approach by improving cellular function and not just alleviating symptoms, providing hope for more effective management of this condition.

Research has shown that nicotinamide mononucleotide (NMN), the treatment under study in this trial, might improve health in several ways. Studies have found that NMN increases NAD+ levels in the body, which are important for energy production and may help slow aging. In healthy adults, the body has safely processed NMN without causing harm. It has also shown potential in enhancing physical abilities, such as exercise endurance, and overall health. Although limited information exists on its effects on congenital disorders of glycosylation, these findings suggest NMN could benefit health improvement.¹²³⁶⁷