Thiamine and Nicotinamide Riboside Improve Symptoms in Charcot-Marie-Tooth Neuropathy: Case Report

Objectives To identify the mechanistic basis of GDAP1 dysfunction in CMT2K and test whether targeted metabolic activation using thiamine and NR can therapeutically correct mitochondrial biochemica...

Nicotinamide Riboside-Containing β-Hydroxybutyrate Supplementation (NHS101) in Children with Multiple Acyl-CoA Dehydrogenase or Pyruvate Dehydrogenase Deficiency: Case Report

Objective To evaluate the efficacy of a new preparation of dextro-β hydroxybutyrate salt mixture containing NR (NHS101) in patients with metabolic disorders affecting energy metabolism, specificall...

Nicotinamide Riboside Restores NAD+ in RYR1-Related Muscle Diseases: Preclinical Findings

Synopsis Mutations in the RYR1 gene cause a group of rare congenital muscle diseases (RYR1-RM) characterized by problems in calcium regulation within muscle cells, leading to muscle weakness and f...

S-Adenosylmethionine and Nicotinamide Riboside Supplementation Improves Fatigue and Stabilizes Vision in PRPS1 Deficiency: Case Report

Objectives To evaluate the impact of S-Adenosylmethionine (SAMe) and NR supplementation on the clinical symptoms of PRPS1 deficiency, specifically focusing on fatigue, cognitive decline, and visio...

Maternal Nicotinamide Riboside Supplementation During Pregnancy May Prevent KYNU Deficiency in Newborns: Case Report

Objectives To characterize the clinical, genetic, and biochemical features of KYNU deficiency and evaluate the safety and preliminary efficacy of postnatal nicotinamide and pyridoxine supplementat...

Nicotinamide Riboside Supplementation Benefits in Werner's Syndrome: Clinical Findings

Objectives To evaluate the safety and efficacy of oral NR supplementation in patients with Werner Syndrome (WS). Journal Aging Cell Key Outcomes NR improved arterial stiffness, as measured by the...

NAD+ Deficiency Drives Kidney Dysfunction in Cockayne Syndrome: Preclinical Findings

SynopsisCockayne Syndrome (CS) is a premature aging disorder caused by mutations in the CSA and CSB genes, leading to problems like early aging, nerve damage, and kidney dysfunction. Cells from CS ...

Nicotinamide Riboside Improves Mitochondrial Health in Werner Syndrome: Preclinical Findings

SynopsisWerner syndrome (WS) is a rare accelerated aging disease caused by mutations in the WRN gene, leading to metabolic problems and premature cell aging. This study found that loss of WRN incre...

Nicotinamide Riboside Protects Against Chronic Kidney Disease by Boosting Metabolism: Preclinical Findings

SynopsisChronic kidney disease (CKD) impairs kidney metabolism, including fatty acid breakdown, and is linked to low NAD+ levels. This study tested nicotinamide riboside (NR), a precursor of NAD+, ...

Targeting Autophagy-NAD Pathway Protects Cells in Niemann-Pick Type C1 Disease: Preclinical Findings

SynopsisImpaired autophagy, which leads to the buildup of misfolded proteins and damaged organelles, has been linked to many human diseases. Loss of autophagy in metabolically active cells can caus...

Treatment with Bezafibrate and Nicotinamide Riboside Temporarily Stabilizes Cardiovascular Health in Complex I Deficiency: Case Report

Objectives To evaluate the effects of high-dose bezafibrate and NR administration in treating an infant with mutations in the ACAD9 gene, resulting in ACAD9-related complex I deficiency. Journal M...

Nicotinamide Riboside Restores NAD+ Levels and Improves Metabolism in Diastolic Heart Failure: Preclinical Findings

Synopsis Heart failure with left ventricular diastolic dysfunction is a growing health problem worldwide. This study looked at levels of NAD+, a key metabolic cofactor, in the hearts of patients w...

Effects of Nicotinamide Riboside on Spinal and Bulbar Muscular Atrophy (SBMA): Preclinical Findings

SynopsisPrevious studies have shown that in spinal and bulbar muscular atrophy (SBMA), a mutant protein called polyQ-expanded AR becomes improperly acetylated, and activating SIRT1, an NAD-dependen...

Nicotinamide Riboside Restores Mitochondrial Function in Alpers’ Syndrome: Preclinical Findings

SynopsisAlpers' syndrome is a devastating early-onset neurodegenerative disorder caused by POLG mutations impairing mitochondrial DNA replication. Patient-derived iPSCs were used to create brain or...

Nicotinamide Riboside Reverses Metabolic Dysfunction in Werner's Syndrome: Preclinical Findings

SynopsisWerner syndrome (WS) features premature aging and metabolic dysfunction, yet mechanisms remain unclear. This study found that loss of the WRN protein accelerates early fat cell formation in...

Nicotinamide Riboside Supplementation in a Child with Mitochondrial Variant and MELAS-Like Symptoms: Case Report

Objectives To assess the potential efficacy of NR supplementation as a therapeutic intervention for a child carrying the mitochondrial DNA variant m.12315G>A, which has previously been identifi...

Genetic Background Influences Nicotinamide Riboside Response in Barth Syndrome: Preclinical Findings

SynopsisBarth Syndrome is a rare genetic disorder caused by mutations in the TAFAZZIN (TAZ) gene, which affects mitochondrial function by disrupting cardiolipin remodeling. While clinical trials ar...

Clinical Outcomes of SAMe and Nicotinamide Riboside Supplementation in a Child with Arts Syndrome: Case Report

Objectives To examine the effects of supplementation of S-adenosylmethionine (SAMe) and NR in a child with Arts syndrome and compare to previous Arts syndrome patients who received SAMe with or wi...

Nicotinamide Riboside Corrects Metabolic Imbalances and Mitochondrial Dysfunction in Citrin Deficiency: Preclinical Findings

SynopsisCitrin deficiency (CD) is a genetic metabolic disorder caused by loss of the mitochondrial transporter CITRIN, which plays a role in the urea cycle and malate–aspartate shuttle. Patients wi...

Nicotinamide Riboside Boosts NAD+ to Improve Telomere Stability: Preclinical Findings

SynopsisTelomere biology disorders (TBDs), such as dyskeratosis congenita (DC), are characterized by critically short telomeres and often lead to bone marrow failure. A key metabolic molecule, NAD+...