Stephen Kaler
Columbia University, NY·Medicine & Clinical Research
Menkes disease is a rare inherited disorder of copper handling. It affects about 1 in 35,000 boys and causes nerve degeneration starting in infancy.
- Fields
Medicine & Clinical Research
Genetics
Neuroscience
- Topics
Menkes disease
copper metabolism
copper transporter
- Grants
- 1 known grant, through Jun 2028
What they work on
- Evaluate the preclinical safety and tolerability of AAV9 gene therapy delivering a shortened, codon-optimized ATP7A copper transporter gene for Menkes disease.
- Establish dosing of intravenous AAV9-ATP7A combined with copper histidinate injections in mottled-brindled mice, a model of Menkes disease, building on 95% long-term rescue.
- Complete toxicology studies needed for FDA approval to begin a first-in-human Menkes gene therapy trial within the URGenT network.
More about the research
Without treatment, it often leads to death before age three. It is caused by mutations in ATP7A, a pump that moves copper inside cells. A copper drug, copper histidinate (CuHis), is nearing approval. However, the over 130 people treated with CuHis alone have shown mixed survival and developmental results, so a more complete treatment is needed.
Why it matters
Infants with Menkes disease face progressive neurologic decline and early death. Pairing copper histidinate with AAV9 gene therapy that restores working ATP7A copper transporters could correct the disease more completely than copper alone. Combined with newborn genetic screening, this approach may change the course of this rare fatal childhood illness, pending the planned clinical trial.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
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.
Xin Chen
University of Texas Southwestern Medical Center, TX·Genetics
Test whether AAV9fyhr-delivered PDHA1, injected into the spinal fluid of E75A mice at several doses and at young or older ages, improves behavior and corrects metabolic measures in this model of pyruvate dehydrogenase complex deficiency.
Christina Pacak
University of Minnesota, MN·Genetics
Optimize the capsid, or virus shell, and the promoter, the DNA switch controlling gene activity, of an AAV vector that delivers the ERCC5 (XPG) gene to improve treatment in Xpg-/- mice.
The school
Columbia University: 89 labs on PI Pages, $1.4B a year on research, 625 research doctorates a year.
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