Niemann Pick Foundation

The Niemann Pick Foundation emailed and said we are officially allowed to share the details on the reseach happening on NP Type A in California.

 Edward H. Schuchman Research Fellowship

I.  Project Title:

“AAV9-mediated human acid sphingomyelinase expression in nonhuman primate brain: Preclinical development of gene therapy for Niemann-Pick disease type A”

Principal Investigator:

Lluis Samaranch Gusi, Ph.D.


Krystof S. Bankiewicz. M.D., Ph.D.


University of California; San Francisco, California

The goal of this project is to develop a treatment for the neurological consequences of Niemann-Pick Type A Disease. In this project, we will evaluate the feasibility of delivering an adeno-associated virus encoding human acid sphingomyelinase globally into the brain by injection of a vector into the brain and/or the spinal canal. The Bankiewicz laboratory has over 30 years of experience in brain delivery in primates with a strong record in translational programs. Development of a treatment for Niemann-Pick type A disease has been supported over the last few years by an National Institutes of Health and National Institute of Neurological Disorders and Stroke RO1 grant to Dr. Bankiewicz. Since Dr. Gusi joined the lab, he has been working on delivery of AAV9 (adeno-associated virus 9) vectors into the brain and infusion of AAV2-hASM (adeno-associated virus 2- human acid sphingomyelinase).

Can we get a WHOOT WHOOT for Team Dr. B!!!  Exciting stuff for our Niemann Pick families.  xoxo


Dr. Bankiewicz UCSF Dept of Neurological Surgery


  1. Sarah Brooks says:

    I have tears of joy running down my face as I’m reading this! Just to know that someone is working towards a treatment for type A brings so much hope!! I had talked to Nadine about this several months ago, but she had said very few things about it. UCSF is not far from us too! This is beyond great news!!!!

    • Mommy and Daddy says:

      I felt the exact same way Sarah, it it so hopeful that someone as brilliant and dedicated as Dr. B is working on this mission for our children … and right in your backyard! Steven spoke with Dr. B over a year ago about how together we would all get him the funding, and how we believe and support what he is studying … I cannot believe this all happened so quickly. I am so grateful to the foundation for believing and listening to our families and turning donations into progress. It is such amazing and hopeful progress. Lots of love Sarah, xoxo S

  2. Wow!!!! Now THIS is the way to start a good day off right…..with HOPE and PROMISE!! I love it — Niemann Pick A…..your days are numbered!!

    God Bless Dr. B and Dr. G and their amazing research…..these researchers are our human angels here on earth.

  3. Cathy Johnson says:

    This is the most awesome start to the day, Shannon! I am so excited to see this post and to know that there is such a determined and caring team working so hard on finding a treatment for type A. I feel as though someone just handed out presents to everyone in the room! The word of the day is HOPE for sure! Thank you for sharing this wonderful news! xoxoxo

  4. wow, thank you so much for sharing this with us. I cannot wait for there to be no other parents or children who have to hear the news we all did, but to hear news of hope and a cure.

Speak Your Mind