CIRM-funded treatment for Cystinosis receives orphan drug designation

Dr. Stephanie Cherqui, UC San Diego

Orphan drug designation is a special status given by the Food and Drug Administration (FDA) for potential treatments of rare diseases that affect fewer than 200,000 in the U.S. This type of status can significantly help advance treatments for rare diseases by providing financial incentives in the form of tax credits towards the cost of clinical trials and prescription drug user fee waivers.

Fortunately for us, a stem cell-gene therapy approach used in a CIRM-funded clinical trial for Cystinosis has just received orphan drug designation. The trial is being conducted by Dr. Stephanie Cherqui at UC San Diego, which is an academic collaborator for AVROBIO, Inc.

Cystinosis is a rare disease that primarily affects children and young adults, and leads to premature death, usually in early adulthood.  Patients inherit defective copies of a gene called CTNS, which results in abnormal accumulation of an amino acid called cystine in all cells of the body.  This buildup of cystine can lead to multi-organ failure, with some of earliest and most pronounced effects on the kidneys, eyes, thyroid, muscle, and pancreas.  Many patients suffer end-stage kidney failure and severe vision defects in childhood, and as they get older, they are at increased risk for heart disease, diabetes, bone defects, and neuromuscular defects. 

Dr. Cherqui’s clinical trial uses a gene therapy approach to modify a patient’s own blood stem cells with a functional version of the defective CTNS gene. The goal of this treatment is to reintroduce the corrected stem cells into the patient to give rise to blood cells that will reduce cystine buildup in affected tissues.  

In an earlier blog, we shared a story by UCSD news that featured Jordan Janz, the first patient to participate in this trial, as well as the challenges promising approaches like this one face in terms of getting financial support. Our hope is that in addition to the funding we have provided, this special designation gives additional support to what appears to be a very promising treatment for a very rare disease.

You can read the official press release from AVROBIO, Inc. related to the orphan drug designation status here.

How CIRM funding creates additional financial support for stem cell research in California

CIRM’s 2017 Annual Report will be going live online very soon. In anticipation of that we are highlighting some of the key elements from the report here on the Stem Cellar.

Two businessman shaking hands

Partnerships that help advance stem cell research

CIRM funds stem cell research.  We all know that.  What you may not know is that CIRM funds also help bring in additional funding and investments to these projects, and as a result, to the state of California.  CIRM’s investment can also be seen as helping validate the credibility of a particular project, taking some of the risk out of investing in it.

We call this second wave of support “Leveraged Funding”. Since we were created in 2004 we have brought in $1.5 billion in Leveraged Funds.

We break that down into three main categories:

  1. Co-Funding– This is funding that was specifically committed to help co-fund a CIRM project. For example, if we fund a for-profit company to do a Phase 1 clinical trial we expect them to co-fund 30% of the cost of the trial. If it’s a Phase 3 clinical trial the co-funding amount rises to 50%.  To date we have received $911 million in co-funding.
  2. Partnership Funding– Partnership Funding – This is non-CIRM funding committed by partners, not already captured by Co-Funding. For example, our Board’s decision to invest in a project can sometimes be seen as a kind of “Good Housekeeping Seal of Approval” because it shows this project has been reviewed by experts and recommended for funding.  Our funding allows investigators to do the early work and get data that helps attract funding from outside investors. These funds can be committed or spent at the same time as CIRM funds or to further the project after the CIRM award expires. Since 2004, we have helped generate $528 million in partnership funding.
  3. Additional Leverage– This is everything not covered by the first two categories but is mainly non-CIRM funding reported in the “Outcomes Survey”, which the lead investigator on the project completes at the end of the award. This lets us know about any non-CIRM funding they received as a result of their CIRM project (such as money from the National Institutes of Health or other agency grants). More than $395 million in additional leverage funding has been raised because of CIRM.

In 2017, we saw eight projects that we support attract additional support, almost $390 million, from outside investors.

  Disease Area  Industry Partner 2017 Funding
1. Adenosine deaminase-deficient Severe Combined Immunodeficiency Orchard Therapeutics $110,000,000
2. X-Linked Chronic Granulomatous Disease Orchard Therapeutics Not disclosed
3. Acute Myeloid Leukemia Forty Seven, Inc. $75,000,000
4. Pediatrics Genetic Disorder AVROBIO, Inc. Not disclosed
5. HIV/AIDS CSL Behring $91,000,000
6. Chronic Lymphocytic Leukemia Oncternal, Inc. $18,400,000
7. Brain Cancer Mustang Bio, Inc. $94,500,000
8. Age-related Macular Degeneration Santen Pharmaceutical Not disclosed
  Total   $388,900,000

Our goal is to do all we can to support the best science and move it out of the lab and into clinical trials in people. Obviously, providing funding is a key step, but it’s far from the only step. For us, it’s really just the first step.

On Wednesday, we’ll profile one of the CIRM-funded researchers whose work is attracting support from outside investors, work that is taking a whole new approach to fighting a deadly brain cancer.