Treating ALS/FTD caused by UBQLN2 gene changes
Mechanistic studies and therapeutics for ALS/FTD linked to UBQLN2 mutations
['FUNDING_R01'] · UNIVERSITY OF MARYLAND BALTIMORE · NIH-11322993
This project looks for treatments that fix cellular clearing and energy problems in people with ALS and frontotemporal dementia linked to UBQLN2 gene changes.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MARYLAND BALTIMORE (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11322993 on ClinicalTrials.gov |
What this research studies
Researchers are using mouse models that carry UBQLN2 mutations and engineered cells to recreate features of ALS/FTD seen in people. They analyze proteins and cellular pathways (proteasome, autophagy, and mitochondrial function) to see how UBQLN2 changes block cell ‘clean-up’ and energy production. The team uses a novel reporter to track autophagosome acidification and tests how UBQLN2 affects the vacuolar H+-ATPase pump and mitochondrial respiration. Findings will guide development of treatments aimed at restoring proteostasis and mitochondrial health.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with ALS or frontotemporal dementia who carry or are suspected to carry UBQLN2 mutations, or family members willing to provide genetic testing or samples.
Not a fit: People whose ALS/FTD is not linked to UBQLN2 mutations, or those with very advanced disease, are less likely to benefit from the approaches studied here.
Why it matters
Potential benefit: If successful, this work could lead to therapies that slow or prevent neuron damage in people with UBQLN2-linked ALS/FTD.
How similar studies have performed: Preclinical work using UBQLN2 mouse models and proteostasis-targeting approaches has shown promise in animals, but these strategies have not yet produced proven treatments for patients.
Where this research is happening
BALTIMORE, UNITED STATES
- UNIVERSITY OF MARYLAND BALTIMORE — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MONTEIRO, MERVYN J — UNIVERSITY OF MARYLAND BALTIMORE
- Study coordinator: MONTEIRO, MERVYN J
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.
Conditions: Amyotrophic Lateral Sclerosis Motor Neuron Disease