Clinical studies on a lifesaving gene therapy are looking good for Jude Samulski, Ph.D., who was recruited to the University of North Carolina School of Medicine in 1993 with nearly $250,000 in grant funding from the North Carolina Biotechnology Center.

A clinical trial that Samulski established in 2001 is showing that this UNC-developed approach, using nano-size viral “trucks” to transport healing genes into patients’ brains, appears to extend the lives of children with Canavan disease, a rare and fatal breakdown of the central nervous system.

The trial results appeared in the Dec. 19, 2012 online edition of the journal Science Translational Medicine.

New hope for preserving brain, nerve cells

Fewer than 1,000 children in the U.S. have Canavan disease, caused by genetic mutations that allow a buildup of toxins that kill brain and nerve cells. Most die by the age of 3 after their heads swell and they experience paralysis, seizures and vision loss.

Samulski’s gene therapy is the first of its kind produced by a U.S. academic institution that is approved for neurological use by the Food and Drug Administration, Samulski said. It’s also the first vector produced by the university’s Gene Therapy Center Vector Core facility to go into patients.

Results of the safety studies, conducted at a New Jersey research hospital, indicate the treatment was well tolerated, and the 13 children in the trials also showed improvements in movement and a slowing of degeneration. Their ages at the time of treatment ranged from four months to 83 months. The treatment has subsequently been used in one child who hadn’t yet been born.

“The genetic information put into the brains of individuals has not caused adverse effects, toxicity, or cancer,” said Samulski. “It also has great potential efficacy for treating other degenerative neurological disorders, including Parkinson’s and Alzheimer’s diseases.”

NCBiotech backs research with grants, loans

Funding support from NCBiotech and the university helped lure Samulski to Chapel Hill from the University of Pittsburgh. NCBiotech has subsequently approved three loans and a grant to help commercialize Samulski’s technologies, which have resulted in two new life-science company spin-outs. The awards include:

  • A $244,000 NCBiotech Industrial Development Grant to UNC in 1996 helped Samulski establish a human applications lab at the university’s Gene Therapy Center.
  • A $15,000 Business Development Loan in 2004 to explore commercialization of his virus-based gene therapy
  • A $150,000 Small Business Research Loan in 2005 to help Asklepios BioPharmaceutical (AskBio), one of Samulski’s Chapel Hill spin-outs, to select the best use of the therapy for congestive heart failure
  • A $100,000 Collaborative Funding Grant in 2007 to advance development of a cardiovascular therapy
  • A $175,000 Small Business Research Loan in 2009 to help another of the Chapel Hill gene therapy companies Samulski co-founded, Molecular Orthopaedics, to explore a treatment for equine osteoarthritis

During the 25 years the Biotechnology Center’s Oliver Smithies Faculty Recruitment Grant program existed, NCBiotech invested $11 million to help the state’s research universities bring in 56 world-class bioscientists. Their work has resulted in the founding of 14 companies and more than $584 million in additional funding to North Carolina research labs.

In 1987 Smithies was in the first class of recruits supported by the grant program that bears his name. The grant program, suspended in recent years, was named in his honor when he won the Nobel Prize in 2007. He continues to do genetic research at UNC.

Editor’s note: Jim Shamp is Director of Public Relations for the N.C. Biotceh Center. He writes and edits news and other web copy, brochures and other internal and external Biotechnology Center materials, and supports the Corporate Communications unit’s marketing and media relations activities.

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