CHOC earns $1 million grant to advance rare disease genome-editing therapy

With an aim of addressing a critical and unmet need in rare disease research, CHOC will advance rare disease genome editing therapeutics, thanks to a $1 million grant from The Larry and Helen Hoag Foundation.

The funding will help form CHOC Center for Advancing Rare disease Editing (CARE), allowing researchers to further their work to use genome editing to rapidly generate, characterize and treat preclinical models of rare disorders with known pathogenic mutations.

Genome editing therapy has the potential to permanently correct underlying pathogenic mutations in patients with some rare diseases. This treatment addresses the root cause of the disorder, eliminating the need for more standard therapies like enzyme replacement and stem cell transplantation that often require repeated treatments.

“CHOC is at the forefront of operating at the interface of translational research and clinical care of rare disorders,” said Brent Dethlefs, executive director of the CHOC Research Institute. “Our ultimate goal is to provide patients with rare diseases with an objective, rigorous assessment of whether genome editing therapy has the potential to advance their current standard of care.”

The work will build upon CHOC’s existing successes in developing preclinical models of rare diseases. For example, CHOC’s lysosomal storage disorders research team has already generated the first preclinical models of Pompe disease – a rare and fatal disorder that affects the heart and muscles – that are suitable for genome editing therapy and exhibit molecular, biochemical and functional analogy to patients with the severe infantile-onset form of the disease.

“Given the success of this project, we have received multiple inquiries from research colleagues seeking to collaborate and patient advocacy groups hoping to generate additional preclinical models of rare disease, but until now, we’ve never had the resources to participate,” CHOC scientist Dr. Jeffrey Huang said. “We believe that CARE has the potential for rapid growth given the intrinsic scalability of genome editing as a strategy to generate preclinical models and develop novel therapeutics.”

The Hoag Foundation funding complements a grant CARE recently received from the CHOC Foundation’s One Wish Grants awards. The grant awards unrestricted funds to outstanding ideas that drive advancement toward CHOC’s strategic goals.

The mission of The Larry and Helen Hoag Foundation is to educate, empower and create greater opportunity for at-risk children to become independent, productive and contributing members of society; support medical research and technology to enhance the health and well-being of children; and support such other compelling purposes that will enhance the quality of life for residents in Southern California.

Learn more about the CHOC Research Institute.

CHOC joins drug trial for rare disease that devastates families

Like most physicians, Dr. Raymond Wang got into medicine because he wanted to help. He wanted to be able to tell patients and their families that he could fix whatever was wrong with them.

When it comes to the disease Dr. Wang dedicated his career to studying, however, he can’t offer such assurances. Hopefully that day is coming.

Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA. It’s a type of Mucopolysaccharidosis, or MPS, a genetic condition that causes physical abnormalities in young children and causes them to lose their neurological development.

Also called Sanfilippo syndrome, its early symptoms can mirror those of autism, but unlike autism, the patients don’t improve, instead gradually deteriorating until memories and even basic abilities are lost. Most Sanfilippo patients don’t survive to adulthood.

There is currently no cure.

“When we go into medicine, we come in thinking, ‘All right, I’m going to help my patients. I’m going to make them better,’ ” says Dr. Wang, a clinical geneticist and biochemical genetics specialist at CHOC for the past 12 years. “When you are faced with the prospect that you can’t help, or at least in the sense that you can’t make these kids better and cure them, that doesn’t sit well with me.”

Dr. Raymond Wang, CHOC clinical geneticist and biochemical genetics specialist

Phases II and III of the trial are being conducted by Lysogene, the French company that developed the experimental treatment. CHOC is one of four U.S. hospitals taking part; there are three such sites in Europe: in France, Germany, and the Netherlands. Lysogene is still enrolling patients and is seeking a total of 20.

Those patients are hard to find. In his decade of researching MPS and seeing patients, Dr. Wang estimates he’s only diagnosed 10 cases. Two of those children were siblings, and tragically both died of the disease. But Dr. Wang has enrolled one patient in the new trial.

Lysogene sought out Dr. Wang  for the trial because of his expertise in researching and diagnosing the various MPS types. If the Lysogene drug is eventually approved by the FDA, CHOC should become the first facility on the West Coast to be able to both diagnose the disease and administer the drug, which is surgically inserted into brain tissue.

It won’t be apparent until a checkup about six months after the procedure whether the drug is working.

“We are hoping to prevent regression at the least, or allow for developmental progression,” Dr. Wang said.

There have been seven different types of MPS identified: I, II, III, IV, VI, VII and IX, not counting the subtypes within them. The subtype MPS IIIA, Sanfilippo, strikes about one in every 100,000 children.

MPS is an inherited disease. All the types are collectively known as “lysosomal storage diseases.” Lysosomes are compartments in cells that break down molecules and remove waste products.

Normally, different enzymes in the lysosomes break down complex sugars called glycosaminoglycans, also known as mucopolysaccharides. In MPS, glycosaminoglycans are not broken down because of a deficiency in one of those lysosomal enzymes. As a result, the glycosaminoglycans accumulate in the cells and cause tissue damage.

Physical symptoms can include thickening of the lips and skin, enlarged liver and spleen, hernias, recurring ear infections, joint pain and stiffness, and shortness of stature. With Sanfilippo, which attacks brain cells, cognitive impairment could include delayed speech. Since by itself speech delay isn’t uncommon in children, Sanfilippo’s initial symptoms only add to the confusion for families.

In the first two to three years of a patient’s life, “there might not be any symptoms,” said Dr. Wang, director of CHOC’s Foundation of Caring Lysosomal Storage Disorder Program . “Nobody ever thinks ‘my kid has Sanfilippo,’ and few doctors think about it. But it starts to be around 3, 4, 5, when hyperactivity starts, and there are questions of autism, and usually what happens is a physician recognizes that kids with Sanfilippo look a little different.”

A treatment that has shown success for some kinds of MPS is enzyme-replacement therapy: delivering synthetic working enzyme using an intravenous solution. It can reduce the effect of symptoms and improve quality of life. But the treatment only works if the disease is not located in the brain; unfortunately, the life-threatening symptoms of Sanflippo are caused by effects of the disease in the nervous system.

Inside the brains of children with Sanfilippo syndrome, a waste product called heparan sulfate builds up, causing nerve damage and, over time, the death of nerve cells. The Lysogene drug includes a package called a “vector.” It contains genetic instructions that enable treated nerve cells to make the missing enzyme, called sulfo-hydrolase, which clears out the waste product.

“Short-term, you can measure things like, is the body producing sulfo-hydrolase enzyme; is there a reduction in heparan sulfate?” Dr. Wang says. “But the more important thing is, is this actually helping these children? What parents really care about is, is it helping their child’s neurologic function. Is my child not regressing? Is my child maybe even gaining developmental milestones back?”

Dr. Wang acknowledges that, as a younger doctor, he was fascinated by the diagnostic side, the “sleuthing” part of identifying patients with, and researching, MPS. But over time, after accompanying many MPS patients and their families along difficult and tragic journeys, he knows his motivations now have a higher purpose, beyond intellectual stimulation.

He reflects that his involvement in clinical trials for children with neurodegenerative conditions such as the Lysogene study is “a way for me personally to channel my feelings of helplessness when we diagnose someone with a supposedly incurable condition.”

“I know how painful it is for these families,” Dr. Wang says. “If I can give them the possibility of hope, then that’s what makes waking up each morning and heading to work worthwhile.”

Learn more about referring to CHOC’s metabolic disorders specialists.

CHOC receives $8 million to advance research for rare disorder

An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disease, ultimately leading to an improved understanding and more effective treatments.

The gift will support CHOC researchers working to develop next-generation therapies for Pompe disease, a lysosomal storage disease wherein glycogen builds up in the body’s cells and causes life-threatening heart failure and muscle weakness in affected babies. In honor of the gift, the program will be named the Foundation of Caring Lysosomal Storage Disorder Program at CHOC.

“This incredibly generous gift from the Foundation of Caring will help accelerate our work to unlock the challenges of Pompe disease and other lysosomal storage disorders, advancing our vision to develop permanent cures for patients with these conditions,” said Dr. Raymond Wang, a CHOC metabolic disorders specialist and director of the Foundation of Caring Lysosomal Storage Disorder Program. “We’re so tremendously grateful to have the Foundation of Caring’s support in CHOC’s goal to protect the magic of childhood.”

Dr. Raymond Wang, CHOC metabolic disorders specialist, director of the Foundation of Caring Lysosomal Storage Disorder Program

Dr. Wang’s work around Pompe disease drew the attention of the Foundation of Caring several years ago, when he began treating the great-granddaughter of the Foundation’s founder after she was diagnosed with the condition.  

With previous support from the Foundation of Caring, Dr. Wang and his team have already made significant strides in its study of Pompe disease, having built a growing research team that’s used CRISPR/Cas9 technology to edit the genome to create animal models of Pompe disease. The Foundation of Caring’s gift will allow Dr. Wang and his team to expand upon this work and use CRISPR to cure Pompe disease and lysosomal storage disorders.

“We are so pleased to support the important work of Dr. Wang and his team at CHOC to help find better treatment or, even better, a cure for Pompe disease for patients affected by the condition worldwide,” said the Foundation of Caring Board of Directors.

Learn more about the Foundation of Caring Lysosomal Storage Disorder Program at CHOC.

Offering answers, hope through rapid whole genome sequencing

The newborn baby girl arrived at CHOC Hospital with a life-threatening irregular heartbeat. Thwarting what could have become a medical odyssey to find a diagnosis, rapid whole genome sequencing (rWGS) pinpointed her condition within two days: Timothy Syndrome, an extremely rare cardiac condition that put her at risk for sudden death.

With the genetic diagnosis in hand, CHOC physicians were able to treat the infant with a medication normally contraindicated for her condition. Her heartbeat was restored to normal, significantly reducing the risk of sudden cardiac death. Her physicians, secure in her diagnosis, implanted a pacemaker, dramatically improving her chances for a happy and healthy childhood.

Now almost 1, this baby is one of nearly 150 critically ill infants who have undergone rapid whole genome sequencing (rWGS) since fall 2018 as part of Project Baby Bear, a pilot project to save babies’ lives – in addition to healthcare costs.

With five participating California children’s hospitals, including CHOC, Project Baby Bear has proven the medical and economic benefits of this most advanced and comprehensive diagnostic method.

Led by Rady Children’s Hospital-San Diego, the program helps infants who are undergoing intensive care and covered by Medi-Cal. By pinpointing the cause of rare disease with rWGS, physicians can customize treatment. Having a genetic diagnosis can eliminate the need for futile tests and procedures while decreasing hospital stays. For parents and children, getting a fast answer means less suffering and more peace of mind.

The other participating hospitals include: UCSF Benioff Children’s Hospital Oakland, UC Davis Children’s Hospital in Sacramento, and Valley Children’s Healthcare in Madera.

Here’s a breakdown of each site’s cases and diagnoses, as of August 2019:

Here’s a look at Project Baby Bear by the numbers:

  • July 2019: project funded
  • $2 million: California state funding
  • 5: Number of participating hospitals statewide
  • 150 approximate infants sequenced
  • 182 hospital days avoided
  • 3 to 4 days: Ultra-rapid results turnaround
  • 3 to 7 days: Rapid results turnaround
  • 6 million children on Medi-Cal
  • 150,000 children could benefit from rWGS

Learn more about the CHOC Research Institute.

CHOC performs first in-human gene therapy dosing for MPS I

Physicians at CHOC Hospital recently administered the first ever in-human dosing of gene therapy for Hurler Syndrome, the severe form of mucopolysaccharidosis type I (MPS I), a rare and progressive lysosomal storage disease.

If ultimately successful, the gene therapy could present an alternative treatment for Hurler Syndrome, which currently calls for a stem cell transplant for children younger than 2 ½. While stem cell transplants are well-proven to help prevent most of the neurologic decline that happens to untreated MPS I patients, the procedure poses significant risks.

Patients with MPS I have a genetic mutation that leads to a deficiency in alpha-L-iduronidase. This enzyme helps break down chemicals called glycosaminoglycans, specifically dermatan and heparin sulfate, the buildup of which can ultimately cause enlarged organs and tissues, heart valve thickening, spinal cord compression, hydrocephalus and progressive loss of intellectual milestones.

The hope is that the gene therapy – RGX-111, which is produced by REGENXBIO Inc. – will equip the patient’s brain cells with the information needed to make working alpha-Liduronidase enzyme to stop the glycosaminoglycans from building in the brain, says Dr. Raymond Wang, a CHOC pediatric metabolic disorders specialist and the study’s lead investigator.

The procedure required five months of planning across disciplines at CHOC, including pediatric metabolic disorders, radiology and imaging, nursing and pharmacy, the pediatric intensive care unit and the CHOC Research Institute, as well as additional radiology expertise from another institution and support from REGENXBIO.

The therapy was administered through a cervical puncture in the neck. With three-dimensional visualization and guidance from a computed tomography scanner, CHOC interventional radiologist Dr. Tammam Beydoun carefully inserted the needle into the fluid-filled space at the junction of the spinal cord and brain stem. Then, Dr. Wang administered the gene therapy.

(From top left, clockwise) Investigational pharmacist Winnie Stockton, radiology technologist Lesley Mercado, radiology technologist lead Nadia Casarrubias-Garcia, clinical research coordinator Eric Rodriguez, clinical research supervisor Nina Movsesyan, director of imaging services Windy Broking, pediatric metabolic disorders specialist Dr. Raymond Wang, interventional radiologist Dr. Tammam Beydoun and radiology medical director Azam Eghbal are part of the large team at CHOC who facilitated the procedure. The team also includes members of the radiology scheduling, information systems, health information management, research and nursing teams.

“I could not have asked for a better implementation of everything we had planned for many months,” Dr. Wang says. “I am so grateful for such an awesome team of people working together for one common goal.”

Dr. Wang says the patient will be monitored indefinitely, with clinicians tracking the child’s cognitive and physical development, as well as measuring the quantity of alpha-L-iduronidase in the child’s body and spinal fluid to determine whether glycosaminoglycans dermatan and heparin sulfate are being broken down.

“I cannot guarantee if the gene therapy is going to work, but the alternative was to watch and let this patient get worse and worse and worse,” said Dr. Raymond Wang. “We’ve got to try something.”

Babies with MPS I show no signs of the condition upon birth. To this end, MPS I was added to the list of conditions tested for in California’s Newborn Screening Program in 2018. But even with enzyme replacement therapy treatment, recommended to begin before age 2, the disease continues to progress, Dr. Wang says.

“Patients will reach a plateau in developmental milestones, and then they’ll start losing milestones,” he says. “Once they could speak, they lose the ability to speak. Once they were able to walk, they lose ability to walk. Then it gets to be really heartbreaking: Once they could eat, then they can’t eat anymore.”

Many patients ultimately rely on feeding tubes, while often enduring airway problems, cardiac disease and hydrocephalus. Quality of life is typically poor, Dr. Wang says.

Not only could a successful outcome in this investigation dramatically change the course of a patient’s life, but it could also pave the way for future gene therapy for additional patients with rare diseases at CHOC, Dr. Wang says.

“This is an opening chapter for a very cool story,” Dr. Wang says.

Learn more about research at CHOC.

CHOC nurse scientist to discuss collaborative innovation at national conference

A CHOC nurse scientist will discuss the health system’s culture of collaborative innovation this month at a prestigious Cleveland Clinic conference, marking the first time outside organizations have been invited to present.

Jennifer Hayakawa, DNP, CNS, CCRN, CNRN, will participate in a panel discussion titled “Teamwork makes the dream work” at the seventh annual Nursing Innovation Summit on Oct. 23.

Jennifer Hayakawa, CHOC Nurse Scientist

In her presentation, “Defending Childhood Through Collaborative Innovation,” Jennifer will discuss the role of a nurse scientist; CHOC’s infrastructure to support nurse innovation; and CHOC nurses’ collaboration with multidisciplinary teams while in pursuit of innovation.

Multidisciplinary collaboration at work

To illustrate the multidisciplinary collaboration at CHOC, Jennifer will also highlight a nurse-led innovation to study pediatric outcomes on a medical device that has been primarily used in adults. CHOC is among the first institutions worldwide to study the use of automated pupillometry in pediatrics. Pupillometers provide reliable and objective data to assist with early detection of subtle neurological changes. ​

“Quantitative pupillometry has been integrated into standard of care and clinical decision-making in adult intensive care units across the nation,” Jennifer says. “While there are multiple studies that validate the use of pupillary metrics to improve clinical outcomes in adult populations, there are very few published studies describing its use in children. Several children’s hospitals are using it, but we’re the first to develop a robust database. Through that, we’ve learned more about what works for our population and we have identified a few challenges unique to pediatrics.”

The idea to begin collecting this data came from the pediatric intensive care unit nurses at CHOC – and has led to a valued partnership with the device manufacturer. Through that relationship, a CHOC multidisciplinary research team will soon begin evaluating the use of pupillary metrics in the assessment and management of concussion, Jennifer says.

“This will help our industry partner to improve their product and will allow us to learn more about application of this new technology in diverse clinical populations,” she says. “We collaborated with the CHOC Research Institute and Innovation Lab to connect with lawyers to get advice about intellectual property and data use agreement contracts. That’s the focus of the conference and panel – working together to innovate healthcare – navigating all of those moving parts.”

During the panel, Jennifer will share the stage with a physician and a patent attorney, and she’s thrilled for the opportunity.

“Working collaboratively to innovate care is something I’m really passionate about,” she says.

The path to a research career

Jennifer’s path toward becoming a nurse scientist at CHOC began about 18 years ago, when she joined the organization as a unit secretary while in nursing school. Upon graduation, Jennifer began work at the bedside in the pediatric intensive care unit.

Through the years, she transitioned to an educator role and later to a clinical nurse specialist role.  About two years ago, Jennifer became CHOC’s nurse scientist.

“I never thought I’d move away from the bedside,” she says. “But my career path and professional growth has led to different opportunities.”

Jennifer credits participating in CHOC’s nursing research fellowship program with propelling her toward a career in research.

“I always knew research was an important part of my role as a clinical nurse specialist, but research always seemed daunting” she says. “Coming out of that program changed my perspective and gave me the confidence to pursue my doctorate degree.”

Research isn’t done in a silo

In her role today, Jennifer is charged with nurturing a culture of inquiry at CHOC. Critical to that is building infrastructure, while also mentoring and guiding nurses through the research process.

Jennifer incorporates her experience as an intimated nascent researcher when working today with nurses considering an investigation or embarking upon a new project.

“I tell them they don’t have to do it alone,” she says. “Research and innovation isn’t done in a silo; it’s done through a lot of multidisciplinary collaboration.”

As the role nurses play in CHOC’s culture of inquiry continues to deepen, the results are evident: In fiscal year 2019, CHOC nurses presented 31 posters and 24 podium presentations at local and national conference and published five articles in peer-reviewed journals.

“Research is integral to the care we provide at CHOC,” Jennifer says. “For families, it represents hope – hope for improved quality of life, hope for a cure, or hope to help other children and their families. It is an honor and a privilege to be a part of a team of talented people providing this innovative care.

Learn more about nurse research and evidence-based practice at CHOC.

CHOC Researcher Recognized at International Molecular Medicine Conference

Jeffrey Huang, Ph.D., a research scientist at CHOC Research Institute whose scientific interests include applying innovative molecular biology techniques to the treatment of rare pediatric disorders, was recently honored at the Molecular Medicine Tri-Conference. Considered one of the world’s leading international events in the field of drug discovery, development and diagnostics, the conference attracts more than 3,000 innovative thinkers and thought leaders in biotech, pharma and academia from around the world.  In addition to serving as a guest speaker at the conference, Dr. Huang was honored with the “Best Poster” award for his presentation, “Engineering cellular and animal models of rare disease using CRISPR-Cas9 genome editing.” In this Q & A, he shares insight about his research and its promise for the future.

What inspires you to focus on rare pediatric disorders, such as Pompe disease?

As a translational research scientist, I am committed to bringing the best scientific research has to offer to the clinic. My decision to join CHOC Research Institute was fueled by a desire to address the lack of alternative treatment options for CHOC patients and families affected by rare pediatric disorders. Over 30 million Americans – nearly 1 in 10 people – suffer from one of the 7,000 conditions classified as a rare disease. Many rare disorders often lead to progressively debilitating and sometimes fatal outcomes in infants and children.  Unfortunately, there are no cures for most rare diseases; if existent, current therapy only attenuates or slows disease progression. My primary research focus is to evaluate and develop CRISPR genome editing therapeutics to address deficiencies of existing treatment for rare pediatric disorders such as Pompe disease.

Jeffrey Huang, Ph.D., research scientist at CHOC, after being honored with the “Best Poster” award for his presentation, “Engineering cellular and animal models of rare disease using CRISPR-Cas9 genome editing,” at the recent Molecular Medicine Tri-Conference.

What are you seeking to accomplish with your research?

Currently, I lead a project to develop personalized CRISPR genome editing therapeutics for Pompe disease – our proof-of-concept rare pediatric disorder. Pompe disease is a progressive cardiac and skeletal myopathy lysosomal storage disorder (LSD) which, despite intravenous doses of recombinant enzyme 40 times that of other LSD treatments, results in the deterioration of affected patients’ muscle strength.  With over 15 years of experience in advanced molecular, cellular, and developmental biology, I have outlined the following strategy to evaluate the therapeutic efficacy and safety of CRISPR genome editing for Pompe disease.

The specific aims of our project are:

1) To generate, via CRISPR-Cas9 technology, animal models of Pompe disease that bear mutations homologous to those that cause human Pompe disease

2) To fully evaluate and validate the animal models generated to ensure molecular, biochemical, histopathological and functional analogy to human Pompe disease

3) To develop specific CRISPR genome editing/delivery systems correcting mutations in validated models of Pompe disease

4) To assess molecular, biochemical, histopathological and functional efficacy as well as safety of CRISPR genome correction in our Pompe disease animal models

I am excited to report that within the past year we have successfully demonstrated that our Pompe disease-specific CRISPR genome editing strategy has produced the desired mutations in cultured cells. Following this pilot experiment, we microinjected our Pompe disease CRISPR reagents into fertilized mouse zygotes to produce the first CRISPR-generated animal model at CHOC (Specific Aim 1). We are currently expanding this new animal model of Pompe disease and will perform the appropriate tests on the expanded cohort to confirm analogy to human Pompe disease (Specific Aim 2).

Our newly generated Pompe animal models will form the basis for future studies that will test the efficacy and safety of CRISPR-mediated genome correction in an in vivo context.

What other projects are in the works?

Future work will focus on evaluating which CRISPR delivery strategy works best to correct Pompe disease mutations in affected tissue (Specific Aim 3) and assessing the efficacy and safety of genome correction in our animal model (Specific Aim 4). Our application of CRISPR technology to Pompe disease will form the basis for future personalized genome editing studies and model the appropriate safeguards that need to be taken prior to testing CRISPR genome editing therapies in a clinical setting.

Learn more about CHOC Research Institute.

CHOC Research Week 2015

Join us for CHOC Research Week, being held through Nov. 20 on CHOC main campus in Orange.

CHOC Research

Tuesday, Nov. 17

Research Resources at CHOC

8 a.m. – 9:30 a.m., Bill Holmes Tower, second floor, conference room A & B

Presenters: Amit Soni, MD, Megan Bailey, BA, Phuong Dao, JD

CHOC Research Institute Open House

Noon – 1:30 p.m., CHOC Research Building, third floor, conference room 2

Refreshments will be served.

Wednesday, Nov. 18

Research Grand Rounds

“A Closer Look at Genomics in the Diagnosis and Treatment of Pediatric Cancers”

8 a.m. – 9 a.m., CHOC West, Wade Education Center, second floor

Leonard S. Sender, MD, medical director, Hyundai Cancer Institute

Keri Zabokrtsky, MS, research programs supervisor, CHOC Hyundai Cancer Genomics Program

Troy A. McEachron, PhD, senior postdoctoral fellow, Integrated Cancer Genomics Division, Translational Genomics Research Institute (TGen)

CME credit available.

Scientific Poster Presentations

9 a.m. – 10 a.m., CHOC West, Wade Education Center, second floor

Moderated by Philip Schwartz, PhD, supervisor senior scientist, CHOC and managing director, National Human Neural Stem Cell Resource

Thursday, Nov. 19

2015 CHOC – UC Irvine Child Health Research Awardee Presentations

9:30 a.m. – 11:30 a.m., CHOC Research Building, third floor, conference room 2

Moderated by Michelle Fortier, PhD, co-director, Center on Stress & Health and assistant professor, UC Irvine School of Medicine

Presenters: Antonio Arrieta, MD, Tami John, MD, Calvin Li, PhD, Joanne Starr, MD, Sharief Taraman, MD, & Ruth McCarty, MS, LAc

Light refreshments will be served.

Emerging Research Programs

2:30 p.m. – 4 p.m., CHOC Research Building, third floor, conference room 1

Moderated by Brent A Dethlefs, executive director, CHOC Research Institute

Presenters: Antonio Arrieta, MD, Randy Berg, PhD, Mariella Simon, PhD Candidate, Raymond Wang, MD

Light refreshments will be served.

Friday, Nov. 20

Research Subjects’ Perspectives

11 a.m. – 1 p.m., Bill Holmes Tower, second floor, conference room C

Moderated by Kathleen Adlard, clinical nurse specialist, Hyundai Cancer Institute and industry track IRB co-chair

Lunch will be served.

Highlights in Nursing Research

1:30 p.m. – 2:30 p.m., Bill Holmes Tower, second floor, conference room B

“Coping with Cancer: The Adolescent and Young Adult Journey”

Nancy Kuntz, MN, RN, CPNP, CPON

“Nursing Evidence-Based Practice: Best Care Based on Well-Designed Studies”

Susan Elliott, PhD, RNC, APRN-BC

Light refreshments will be served.

For more information, please call 714-509-4341. Learn more about research services at CHOC.

CHOC Stem Cell Production Facility to Accelerate Research into Rare Neurological Diseases

StemCellLabpicCHOC’s new stem cell production facility, slated to open late this summer, will allow CHOC researchers to produce patient-specific cells for immune-matching therapies that could positively impact fatal neurological diseases in children – all at a fraction of the cost of building a larger, more complex laboratory.

Within the state-the-art softwall clean room, CHOC researchers will study a stem cell-based therapy for the treatment for mucopolysaccharidosis (MPS-1), a rare and progressive neurodegenerative disease that typically claims patients before they reach the age of 10.

“Based on the results of animal trials we’ve conducted so far, we have a high degree of confidence that stem cell-based therapy will work to treat MPS-1,” said Philip Schwartz, Ph.D., senior scientist at the CHOC Research Institute and managing director of the National Human Neural Stem Cell Resource.

“If our research is successful, the approach could be used to treat a number of other immune-based diseases that damage the nervous system, like multiple sclerosis,” Dr. Schwartz said.

The approach involves using umbilical cord blood to replace a patient’s immune system, then implanting neural cells derived from the same blood into the brain to repair and prevent brain damage.

While implanting cells directly into the brain isn’t new, current treatment protocols require that patients take immunosuppressant drugs to reduce the risk of rejection, which leaves them vulnerable to a host of infections. Standard procedures for replacing the immune system, like bone marrow transplants, aren’t effective for patients with brain disorders caused by their underlying disease because the transplanted cells don’t cross the blood-brain barrier and therefore don’t slow the progression of brain disease.

The new facility will be one of less than a dozen in the nation and the only one that is focused on immune matching rather than immune suppression.

Dr. Schwartz estimated that it would require about five years of work to establish a program before approaching the U.S. Food and Drug Administration for approval to begin Phase I clinical trials. The current research project is supported by a $4.27 million grant from the California Institute for Regenerative Medicine.