Tiny molecule prosthetics to replace missing enzymes
Molecular Prosthetics and Lego Chemistry
['FUNDING_OTHER'] · UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN · NIH-11307074
The team is developing small drug-like molecules that can stand in for missing enzymes to help people with inherited enzyme-deficiency disorders like ornithine transcarbamylase deficiency, argininosuccinate lyase deficiency, and hereditary tyrosinemia type 1.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN (nih funded) |
| Locations | 1 site (CHAMPAIGN, UNITED STATES) |
| Trial ID | NIH-11307074 on ClinicalTrials.gov |
What this research studies
This project aims to create "molecular prosthetics" — small chemicals that perform the key reactions missing when an enzyme is absent. Researchers will use automated, modular chemistry methods to build large libraries of candidate molecules and screen them for the ability to consume or transform the toxic substrates that build up in these diseases. They will test promising candidates in cells and animal models and use human samples or earlier human observations to guide selection. The work focuses on disorders where the offending substrate accumulates to high levels and has distinctive chemistry that a small molecule can exploit.
Who could benefit from this research
Good fit: People living with ornithine transcarbamylase deficiency, argininosuccinate lyase deficiency, or hereditary tyrosinemia type 1 would be the primary candidates for related future trials or sample contributions.
Not a fit: Patients with unrelated conditions or metabolic disorders that do not involve a build-up of chemically reactive substrates are unlikely to benefit from this approach.
Why it matters
Potential benefit: If successful, this could lead to new medicines that lower toxic metabolites and partly restore metabolic function without needing gene therapy or protein replacement.
How similar studies have performed: The team has reported early success in animals and some human observations showing small molecules can mimic missing enzyme functions, but applying this broadly to multiple enzyme deficiencies is a novel and experimental advance.
Where this research is happening
CHAMPAIGN, UNITED STATES
- UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN — CHAMPAIGN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BURKE, MARTIN D — UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN
- Study coordinator: BURKE, MARTIN D
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.