Exploring how a lack of NAD affects a genetic disorder related to tryptophan metabolism
Understanding the Role of NAD Deficiency in a Mendelian Disorder of Tryptophan Metabolism
['FUNDING_FELLOWSHIP'] · BAYLOR COLLEGE OF MEDICINE · NIH-11069580
This study is looking into how certain genetic factors can cause low levels of a vital nutrient called NAD, which may lead to birth defects and developmental problems, and it will also check if adding niacin to the diet can help improve these issues.
Quick facts
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11069580 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic causes of congenital nicotinamide adenine dinucleotide (NAD) deficiencies, particularly focusing on how disruptions in the kynurenine pathway can lead to various birth defects and developmental issues. By studying mouse models with specific genetic variants, the research aims to understand the relationship between low NAD levels and the resulting health conditions. The study will also explore whether dietary niacin supplementation can help mitigate some of the negative effects associated with these deficiencies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital anomalies, developmental delays, or a family history of recurrent miscarriages linked to NAD deficiencies.
Not a fit: Patients without genetic disorders related to tryptophan metabolism or those not exhibiting symptoms of NAD deficiency may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new dietary interventions that improve health outcomes for individuals affected by congenital NAD deficiencies.
How similar studies have performed: While the specific genetic variant being studied has not been previously associated with congenital NAD deficiencies, research into similar metabolic pathways has shown promise in understanding related disorders.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ACEVES, NATHALIE MARIE — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: ACEVES, NATHALIE MARIE
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
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