Angela Roger
Duke University, NC·Physiology·Early-career
Pompe disease is an inherited, often fatal disorder in which the body cannot break down glycogen, the stored form of sugar. The cause is a mutation in the gene for acid α-glucosidase (GAA), the enzyme that digests glycogen inside lysosomes — the small compartments where cells recycle material.
- Fields
Physiology
Pharmacology
Neuroscience
- Topics
Pompe disease
glycogen storage disease
acid alpha-glucosidase
- Grants
- 1 known grant, through Jan 2027
What they work on
- Test whether acute intermittent hypoxia, brief repeated episodes of low oxygen that activate the autophagosome initiation complex, improves respiratory motor neuron and muscle pathology in Gaa-knockout Pompe mice.
- Determine whether rapamycin, which inhibits the metabolic regulator mTORC1 and thereby activates autophagy, clears glycogen and restores autophagy in respiratory muscles and motor neurons of Pompe mice.
- Assess whether recombinant adeno-associated virus gene therapy delivering GAA, the missing glycogen-digesting enzyme, reduces glycogen and improves lysosome health and autophagy across the respiratory motor unit.
- Combine rAAV-GAA gene therapy with acute intermittent hypoxia and rapamycin to test for cumulative benefit, using nerve recordings, whole-body plethysmography, proteomics of autophagy proteins, and immunohistochemistry of muscle and central nervous system tissue.
More about the research
Without it, glycogen piles up in heart, skeletal and smooth muscle and in the motor neurons that command muscles. The one approved treatment, enzyme replacement therapy with recombinant human GAA, works well for the heart but cannot fully fix skeletal muscle, because the cell's recycling pathway (autophagy) is itself broken, and it cannot cross the blood-brain barrier to reach motor neurons. As a result, patients still progress to respiratory failure. This project searches for additional therapies that can clear glycogen and restore autophagy in the muscles and nerves that drive breathing.
Why it matters
Children and adults with Pompe disease still face progressive breathing failure because the only approved therapy cannot reach motor neurons or fully repair muscle. Testing whether brief low-oxygen exposure, rapamycin and AAV gene therapy — alone or together — clear glycogen and restore cellular recycling in respiratory muscles and nerves could identify add-on treatments. Since all three are already used clinically or in trials, positive results could translate relatively quickly into care for patients with respiratory distress.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Kristi Streeter
Marquette University, WI·Neuroscience
Test whether activating phrenic proprioceptors, the stretch sensors of the diaphragm, induces a form of phrenic motor plasticity mechanistically distinct from other respiratory plasticity, using in vivo neurophysiology in rats to probe spinal mechanisms.
Steven Gray
University of Texas Southwestern Medical Center, TX·Medicine & Clinical Research
Assess the safety and toxicology of AAV9/AGA, a harmless adeno-associated virus carrying a working copy of the AGA gene, in preclinical models following intrathecal injection into the fluid around the spinal cord.
Sabhya Rana
Ohio State University, OH·Neuroscience·Early-career
Develop an effective transcutaneous spinal direct current stimulation protocol that increases phrenic nerve activation after cervical spinal cord injury in rats, using controlled neurophysiological nerve recordings.
The school
Duke University: 61 labs on PI Pages, $1.6B a year on research, 417 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.