FOLLISTATIN GENE TRANSFER - Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Duchenne


Frequently Asked Questions (FAQs) about this research:


What stage is this research?

  • This Phase 1/2 trial is ongoing but not recruiting participants.


Where is this research being performed and who is funding this research?

  • This research is being led by Dr. Jerry Mendell at Nationwide Children’s Hospital Research Center in Columbus, Ohio.


What is the goal or purpose of this research?

  • The proposed clinical trial is an outgrowth of the safety record and functional improvement seen in the Becker/sIBM follistatin  Glossary Link gene therapy trial. Follistatin is a muscle growth-stimulating protein.  In this study the investigators propose to inject the follistatin gene into muscle using a virus called adeno-associated virus (AAV1.CMV.huFS344). This virus occurs naturally in muscle and does not cause any human disease. If successful, the investigators can potentially prolong a patient's ability to walk.


Who is eligible to participate in this study?

  • This study is recruiting ongoing but not recruiting patients.  Six male Duchenne patients, age 7 years or older, with a proven Glossary Link mutation of the dystrophin gene are being recruited.  Participants must have impaired muscle function based on clinical evidence, and they must be on stable dose of prednisone for three months at time of enrollment or be started on oral dose of daily prednisone regimen for 30 days prior to gene transfer.   


What do participants have to do in this study?

  • The viral Glossary Link vector will be delivered to the legs of 6 Duchenne patients via multiple, direct intramuscular injections of rAAV1.CMV.huFollistin344. The number of injections per muscle will depend on the size of the patient. A total dose of 2.4E12 vg/kg (1.2E12vg/kg/limb) will be delivered. This dose will be divided between gluteal muscles, quadriceps and tibialis anterior. This is a wider distribution of vector than given to Becker patients, who overall improved the distance walked on the 6MWT without adverse events related to viral transduction into a single muscle.
  • The primary objective of this study is safety.  Endpoints will include hematology, serum chemistry, urinalysis, immunologic response to rAAV1 and follistatin, and reported history and observations of symptoms. Efficacy measures will be used as secondary outcomes and include the distance walked on the 6MWT, functional tests by PT, life quality questionnaire, MRI, EIM, and muscle biopsy. Participants will have follow up visits on days 7, 14, 30, 45, 60, 90, 180 and 9, 12, 18 and 24 months post-gene transfer.


Where can I learn more about this research?