Targeted DOK7 gene therapy for Congenital Myasthenic Syndromes
Grant Award Details
Grant Type:
Grant Number:
CLIN1-16103
Investigator(s):
Disease Focus:
Award Value:
$2,894,305
Status:
Active
Grant Application Details
Application Title:
Targeted DOK7 gene therapy for Congenital Myasthenic Syndromes
Public Abstract:
Therapeutic Candidate or Device
The therapeutic candidate to be studied under this proposal is a gene therapy product for the treatment of DOK7 Congenital Myasthenic Syndrome
Indication
The target indication is DOK7 Congenital Myasthenic Syndrome (DOK7 CMS)
Therapeutic Mechanism
The gene therapy product will restore a functional copy of the DOK7 gene, allowing production of a normal DOK7 protein therefore reestablishing the correct signaling in the NMJ, ultimately curing DOK7 CMS.
Unmet Medical Need
There is no cure for DOK7 CMS. The proposed gene therapy will be the first treatment specifically designed for DOK7 CMS enabling a shift in clinical practice from chronic administration of drugs to alleviate symptoms to a one-off therapy allowing physicians to treat the entire affected population.
Project Objective
Generate final data necessary for IND application.
Major Proposed Activities
The therapeutic candidate to be studied under this proposal is a gene therapy product for the treatment of DOK7 Congenital Myasthenic Syndrome
Indication
The target indication is DOK7 Congenital Myasthenic Syndrome (DOK7 CMS)
Therapeutic Mechanism
The gene therapy product will restore a functional copy of the DOK7 gene, allowing production of a normal DOK7 protein therefore reestablishing the correct signaling in the NMJ, ultimately curing DOK7 CMS.
Unmet Medical Need
There is no cure for DOK7 CMS. The proposed gene therapy will be the first treatment specifically designed for DOK7 CMS enabling a shift in clinical practice from chronic administration of drugs to alleviate symptoms to a one-off therapy allowing physicians to treat the entire affected population.
Project Objective
Generate final data necessary for IND application.
Major Proposed Activities
- Manufacture the gene therapy product to support first clinical trial
- Potency assay development
- Biodistribution and shedding analysis
Statement of Benefit to California:
This proposal will allow to submit an IND for the first clinical trial in DOK7 CMS which will be held at UCSF in collaboration with a world renowned expert on CMS from UC Davis. The trial will benefit California resident suffering from DOK7 CMS, benefits will be particularly evident for the pediatric population, which will be spared lifelong limitations such as the need for tracheotomy or severe scoliosis.
