CHOP Researchers Selected for Bespoke Gene Therapy Consortium

Funding from the consortium will help researchers develop gene therapies for multiple sulfatase deficiency, a devastating lysosomal storage disorder, with the goal of first-in-human trials

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Two researchers from Children’s Hospital of Philadelphia (CHOP) were selected for inclusion in the Foundation for the National Institutes of Health (FNIH) Accelerating Medicines Partnership® Bespoke Gene Therapy Consortium (AMP® BGTC), a public-private partnership that seeks to accelerate the development and delivery of customized gene therapies for rare diseases. CHOP neurologist Laura Adang, MD, PhD, MSTR, and metabolic diseases expert Rebecca Ahrens-Nicklas, MD, PhD, will use gene therapy to target multiple sulfatase deficiency (MSD), a lysosomal storage disorder that affects the brain, skin, and skeleton. The announcement was made at the American Society of Gene & Cell Therapy (ASGCT) 26th Annual Meeting.AdangAhrens-780x438DrsForWeb

“We are honored to be included in the BGTC clinical trial portfolio, which will help us bring targeted gene therapies to patients with MSD faster,” said Dr. Ahrens-Nicklas, an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP. “CHOP has a long history of taking gene therapies from bench to bedside, and we look forward to continuing that tradition with this work.”

“MSD is an ultrarare disease with progressive and devastating effects on early development,” said Dr. Adang, an attending physician in the Division of Neurology at CHOP. “Developing a gene therapy to correct the genetic underpinnings of this disorder would be a huge advancement for patients affected by MSD and would offer hope to patients and their families.”

MSD is caused by genetic changes in the SUMF1 gene and is inherited in an autosomal recessive pattern. The SUMF1 gene is required to activate an entire class of enzymes called sulfatases. Sulfatases are important in breaking down molecules for normal cellular function. MSD can affect children at different stages, from birth to later in childhood. Patients experience devastating multi-systemic symptoms, from the progressive loss of mental abilities and movement to skeletal deformities and seizures. The CHOP research team will test gene therapy strategies to provide a functional copy of the SUMF1 gene to patients.

A total of eight diseases were selected for the BGTC portfolio, which provides a streamlined approval pathway for first-in-human clinical trials. Managed by the FNIH, the consortium is a public-private partnership between the National Institutes of Health (NIH), U.S. Food and Drug Administration (FDA), biopharmaceutical and life science companies, and non-profit and other organizations to help speed the development and delivery of customized or ‘bespoke’ gene therapies. 

Learn more about the BGTC here.   

Contact: Dana Bate, The Children’s Hospital of Philadelphia, 267-426-6055 or