Research

GENE THERAPY

We are working with the world’s leading researchers studying gene transfer approaches to pediatric orphan diseases, and thanks to truly groundbreaking research the scientific world has made some exciting advances. One of the biggest obstacles for treating any brain disease is the inability of nearly all drugs and treatments to cross through the blood brain barrier, which prevents the entry of external compounds into the brain. Because of this barrier, potentially lifesaving treatments aren’t able to reach their intended target, scientists have now discovered an ingenious way to overcome this barrier.

 

This method relies on nature itself and on the behavior of a particular virus called Adenovirus (AAV), this virus has figured out ways of infecting cells, including the brain, and now scientists have devised methods to harness this power virus. The replacement gene is delivered to the brain by inserting it directly into the AAV virus. 

CURRENT STATUS
Cure SPG50 has engaged Dr. Steven Grey of the University of South Texas to develop a gene therapy proof-of-concept. His team will develop an AAV9 viral vector capable of delivering a good, working copy of the AP4M1 gene's to the central motor neuron, this research will provide the basis for pursuing human clinical trials in the coming years. Early proof-of-concept research looks promising thus far.

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Boston Children's Hospital's Dr. Darius Ebrahimi-Fakhari, along with the Translational Neuroscience Center, and the Manton Center for Orphan Diseases, has initiated the first International Registry and Natural History Study for Adapter-Protein 4 (AP4)-related Hereditary Spastic Paraplegia. Diagnoses of interest include patients with mutations in the following genes:
 

GeneHSP Sub-type

AP4B1SPG47

AP4M1SPG50

AP4E1SPG51

AP4S1SPG52

 

Participant enrollment entails:

  • Informed consent conversation with Manton Center study staff (in person or via phone)

  • Written consent and medical record release paperwork

  • Clinical history questionnaire

  • Possible blood sample collection


There is no cost to participate, and travel to Boston is not required. All enrollment can be completed remotely. If you believe you or your child may be eligible for this study and you are interested in learning more:
 

Please contact:

Research Coordinator: Erin Carmody
erin.carmody@childrens.harvard.edu
Translational Neuroscience Center | Boston Children's Hospital
Phone: +1 (617) 919-4599| Fax: +1 (617) 730-0450