Category: Genetics

Nevada Rare Disease Legislation: NV SB189 and SB348 Explained

Posted on by Jennifer Glover

Key Takeaways:

  • Nevada passed two major rare disease bills in 2025: SB189 (genetic counseling licensure) and SB348 (newborn screening modernization).
  • SB189 establishes licensing for genetic counselors and recognizes genetic counseling as a reimbursable medical service in Nevada.
  • SB348 modernizes Nevada’s newborn screening program by updating the funding model and requiring separate Medicaid reimbursement.
  • The Nevada Rare Disease Advisory Council (NV-RDAC), chaired by Annette Logan Parker, led the advocacy efforts for both bills.
  • Together, these bills create a comprehensive system connecting early detection, diagnosis, and treatment for rare diseases in Nevada.
  • More than 30 million Americans live with rare diseases, including thousands of Nevada families who previously faced limited local resources.

What is Nevada Rare Disease Legislation?

Nevada rare disease legislation are state laws designed to improve diagnosis, treatment, and access to care for families affected by rare diseases. In 2025, Nevada made historic progress with the passage of two landmark bills: Senate Bill 189 and Senate Bill 348.

These bills represent Nevada’s commitment to building a healthcare system where early detection, affordable access, and coordinated care are standard—not luxuries. For Nevada’s rare disease community, this legislation marks a turning point in how the state supports its most medically complex patients.

Why Does Nevada Need Rare Disease Legislation?

One in ten Americans—more than 30 million people—lives with a rare disease. In Nevada, families facing rare disease diagnoses have historically encountered significant barriers: delayed diagnoses, limited treatment options, and fragmented care systems.

According to the National Organization for Rare Disorders (NORD) 2024 State Report Card, Nevada ranked in the middle tier of states for rare disease support. While not failing, Nevada had clear opportunities to lead. The challenge was building infrastructure for early detection, ensuring affordable access, and creating coordinated care pathways.

The 2025 legislative session changed that trajectory, and the impact on 2026 and beyond is profound.

Dr. Joseph Lasky and Dr. Mark Nunes from Cure 4 The Kids Foundation
Dr. Joseph Lasky, Medical Director at Cure 4 The Kids Foundation and Dr. Mark Nunes, Director of Genetics, Genomics, & Metabolism at Cure 4 The Kids Foundation

What is SB189 in Nevada?

Senate Bill 189, sponsored by Senator Roberta Lange, establishes Nevada’s first licensing framework for genetic counselors. Genetic counselors are healthcare professionals who help families understand genetic test results and make informed decisions about their care.

What SB189 Does

SB189 creates professional licensure and regulation for genetic counselors in Nevada, ensuring families receive expert guidance when interpreting genetic testing results. The bill recognizes genetic counseling as a reimbursable medical service, making this specialized care accessible and affordable for Nevada families.

Before SB189, Nevada patients often had to seek genetic counseling expertise out of state. Now, licensed genetic counselors can practice locally, and their services are covered by insurance.

Why SB189 Matters

For families receiving newborn screening results or rare disease diagnoses, genetic counseling translates complex medical data into actionable answers. SB189 ensures that Nevada has the professional workforce needed to support families from diagnosis through treatment decisions—turning uncertainty into understanding.

What is SB348 in Nevada?

Senate Bill 348, sponsored by Senator Julie Pazina, modernizes Nevada’s newborn screening program. Every baby born in Nevada is tested for dozens of life-threatening genetic and metabolic conditions that are treatable when caught early.

What SB348 Does

SB348 updates Nevada’s decade-old newborn screening funding model to reflect rising costs and new technologies. The bill increases the newborn screening fee from $81 to $122 in 2025 and $150 in 2026. Critically, SB348 requires Medicaid to reimburse newborn screening separately from delivery care, ensuring hospitals and labs receive fair payment while protecting families from unexpected costs.

Why SB348 Matters

Nevada’s newborn screening program was at risk of falling behind due to outdated funding and expiring federal grants. SB348 ensures every Nevada baby receives comprehensive screening for conditions that, when detected early, can mean the difference between lifelong complications and healthy development. For rare diseases, early detection is life-saving.

How Do SB189 and SB348 Work Together?

This new Nevada rare disease legislation isn’t just about passing individual bills—it’s about creating a comprehensive system of care. SB189 and SB348 work together to connect every step of the rare disease journey, from detection to diagnosis to treatment.

Focus Area

SB189 (Genetic Counseling)

SB348 (Newborn Screening)

Early Detection

Licenses genetic counselors to interpret results

Expands and sustains newborn screening program

Access & Coverage

Recognizes counseling as a reimbursable service

Ensures Medicaid reimbursement for screening

Quality & Oversight

Strengthens lab standards through licensure

Supports state lab sustainability with updated funding

Patient Support

Builds professional workforce for ongoing care

Detects conditions at birth for immediate intervention

Together, these bills create a pathway from screening to diagnosis, connecting Nevada families with the resources they need exactly when they need them.

Annette Logan-Parker
Annette Logan-Parker, Founder, Chief Advocacy, and Chief Innovation Officer at Cure 4 The Kids Foundation

Who Led Nevada’s Rare Disease Legislative Efforts?

The Nevada Rare Disease Advisory Council (NV-RDAC), chaired by Annette Logan-Parker, led the advocacy efforts that resulted in SB189 and SB348. Annette, who is also the Founder and Chief Advocacy & Innovation Officer of Cure 4 The Kids Foundation, worked with legislators, public health leaders, and community advocates to ensure rare disease priorities remained central throughout the legislative session.

The NV-RDAC’s collaborative approach—balancing fiscal responsibility with compassion and policy detail with human impact—ensured that the voices of Nevada families living with rare diseases were written directly into state law.

Learn more: Annette Logan-Parker reflects on being honored with the Nevada Cancer Coalition’s Advocacy Award for her dedication and advocacy. 

What’s Next for Rare Disease Care in Nevada?

Nevada’s 2025 legislative victories lay the groundwork for continued progress. Future priorities include:

  • Expanding Nevada’s newborn screening panel to include all 35 conditions recommended by the federal Recommended Uniform Screening Panel (RUSP)
  • Implementing Medicaid coverage for licensed genetic counseling services
  • Building an in-state Genetics and Rare Disease Center of Excellence
  • Reinstating automatic inflation indexing to sustain long-term lab growth

According to NORD’s latest data, Nevada now ranks among stronger-performing states in newborn screening (Grade B), step therapy protections (Grade A), and telehealth access. The state’s active RDAC continues driving measurable change.

Championing Policy That Puts Patients First

Nevada rare disease legislation demonstrates what’s possible when compassion and policy align. SB189 and SB348 don’t just represent two health bills—they represent a comprehensive system that connects hope to action and diagnosis to care.

For Nevada families affected by rare diseases, this legislation means earlier answers, better access, and a healthcare system designed to support them from day one. For advocates and policymakers, it’s proof that strategic, collaborative leadership can transform healthcare systems and create lasting change.

Nevada is no longer following national trends in rare disease care. Today, we’re proud to say our great state is creating its own roadmap, one that puts patients and families first.

Pediatric Genetics in Nevada: Specialized and Rare Disease Care

Posted on by Jennifer Glover

Key Takeaways:

  • Cure 4 The Kids Foundation is Nevada’s only comprehensive pediatric genetics and rare disease center, offering families access to specialized care without leaving the state. 
  • Cure 4 The Kids Foundation now provides genetic testing that can diagnose rare conditions in as little as 5-7 days, gene therapy treatments for conditions like hemophilia B, and coordinated care across multiple pediatric specialties including oncology, hematology, rheumatology, and orthopedics. 
  • Led by Dr. Mark Nunes, Las Vegas’s first family geneticist, the program takes a collaborative approach—testing children alongside both parents while coordinating with specialists across numerous pediatric healthcare disciplines—to provide complete genetic insights and reproductive counseling. 
  • Families can access these services at Cure 4 The Kids Foundation through a referral from their primary care provider or pediatrician, with our 170+ member team providing support from diagnosis through treatment and beyond.

When a child faces a rare disease or genetic condition, families need medical expertise, hope, answers, and accessible care close to home. As Nevada’s premier destination for pediatric specialty care, Cure 4 The Kids Foundation recently expanded its services to include the region’s first comprehensive family genetics program.

A Revolutionary Approach to Family Genetics in Nevada

As Nevada’s first full-time practicing medical and molecular family geneticist, Cure 4 The Kids Foundation’s Dr. Mark Nunes doesn’t just focus on the affected child—he examines entire family units, testing trios of children and both parents to provide comprehensive genetic insights. Dr. Nunes brings this same comprehensive, collaborative approach to every case, combining genetic expertise with input from multiple specialists to reach accurate diagnoses. 

In one of his first cases at Cure 4 The Kids Foundation, Dr. Nunes worked with a family whose fetus was diagnosed with a lethal skeletal dysplasia (a type of dwarfing condition a baby cannot survive)—and once born, this still appeared to be the case, as the newborn immediately needed to be put on a ventilator. Through x-ray analysis, advanced genetic testing, and collaboration with Cure 4 The Kids Foundation’s pediatric orthopedist Dr. David Stewart, Dr. Nunes was able to determine that the baby actually had a milder form of the condition and could survive into adulthood, completely changing the prognosis and giving the family hope where there had been despair.

The family genetics program at Cure 4 The Kids Foundation addresses three critical needs for families:

  1. It provides medical management guidance based on specific genetic diagnoses, ensuring children receive targeted, appropriate care. 
  2. It offers reproductive counseling, helping parents understand the likelihood of future children being affected by genetic conditions. 
  3. It ends the diagnostic odyssey—that exhausting, expensive journey from specialist to specialist seeking answers for a child’s unexplained symptoms.

Dr. Joseph Lasky, Medical Director at Cure 4 The Kids Foundation

Cure 4 The Kids Foundation is Committed to Providing World-Class Pediatric Care—Even into Adulthood

While Cure 4 The Kids Foundation initially focused on pediatric hematology and oncology, the organization has evolved into a comprehensive medical facility for children with complex conditions. Cure 4 The Kids Foundation now houses multiple specialties under one roof, including rheumatology for autoimmune conditions, orthopedic surgery, behavioral health services, physical therapy, and more. Integration like this means families don’t have to coordinate care across multiple facilities or struggle with communication between different providers.

Our organization’s commitment also extends beyond traditional pediatric age limits. Many genetic conditions and childhood cancers require specialized knowledge that adult providers may not possess. As our medical director Dr. Joseph Lasky explains, some patients continue receiving care into early adulthood because the pediatric specialists at Cure 4 The Kids Foundation have the deepest understanding of conditions that originated in childhood. This continuity of care proves invaluable for conditions like sickle cell disease, hemophilia, and various genetic disorders that require lifelong management.

Going Above and Beyond to Serve Families Facing Rare Diseases

Perhaps nowhere is Cure 4 The Kids Foundation’s innovative spirit more evident than in our embrace of cutting-edge treatments. The team recently administered a new, FDA-approved gene therapy to a 44-year-old patient with hemophilia B, a severe bleeding disorder that starts from birth and previously required IV factor replacement treatments multiple times per week. After successful administration of this groundbreaking gene therapy treatment, the patient has maintained normal factor levels for over a year without needing any additional IV treatments—a life-changing outcome that would have seemed like science fiction just a decade ago.

Cure 4 The Kids Foundation also provides access to investigational treatments not available elsewhere in Nevada. One local family with three boys affected by Niemann-Pick Type C, a rare storage disorder characterized by an inability of the body to transport cholesterol and other lipids inside of cells, previously traveled to Los Angeles every two weeks for spinal tap treatments provided as part of a medical study. Dr. Lasky and the staff at Cure 4 The Kids Foundation were able to get that study open at our facility, granting our providers access to that same medication and protocol. Now, Dr. Lasky administers these treatments locally, allowing the boys to maintain a better quality of life while receiving therapy that significantly slows disease progression.

The Power of Collaboration in Complex Genetic Cases

Modern pediatric medicine, especially in genetics and rare diseases, requires extensive collaboration between specialists. Dr. Nunes emphasizes how critical teamwork is in reaching accurate diagnoses and developing treatment plans. For example, radiologists provide crucial clues through imaging—such as a chest x-ray revealing a missing rib or an ultrasound highlighting a kidney malformation—that help geneticists narrow down potential diagnoses from thousands of possibilities to just a few.

Cure 4 The Kids Foundation and its providers maintain close relationships with many medical facilities. For instance, Dr. Nunes works very closely with the genetic counselor and pediatric cardiologists at Children’s Heart Center of Nevada, as many genetic conditions affect the heart. Similarly, neurologists frequently collaborate on cases involving intellectual disabilities, autism spectrum disorders, and seizure disorders. All this multidisciplinary support ensures that children receive comprehensive care that addresses all aspects of their condition, not just isolated symptoms.

Navigating the Emotional Journey

Caring for children with serious medical conditions takes an emotional toll on everyone: patients, families, and medical professionals. That’s why Cure 4 The Kids Foundation has built a robust support system that includes child life specialists who help young patients and their siblings understand and cope with complex medical situations. We also have social workers who assist families in navigating the financial challenges that often accompany long-term medical care, from insurance issues to the impact on parents’ ability to work.

Dr. Nunes shared a profound insight with Denielle Chong on Beyond the Image about the emotional complexity of genetic diagnosis:

“You know, we have an interesting phenomenon that happens in genetics sometimes with this diagnostic odyssey, and that is that families have been looking for an answer and have been in this world of gray for six or seven years. All of a sudden, we give them an answer…and all of a sudden, it’s this big loss. You go from this world of gray to black and white, and it’s a grieving process for these families…It’s helpful for families to know they’re not alone and the sun will rise the next day.”

Dr. Mark Nunes, Director of Genetics, Genomics & Metabolism at Cure 4 The Kids Foundation

After enduring so much uncertainty and hope for various outcomes, a definitive diagnosis can feel like a loss, even when it provides the answers families have been looking for. The team at Cure 4 The Kids Foundation understands these complex emotions and provides support through every stage of the journey.

Accessing Care at Cure 4 The Kids Foundation

For families wondering if their child might benefit from the services and specialists at Cure 4 The Kids Foundation, the path typically begins with a conversation with their pediatrician. Primary care providers play a crucial role in identifying when a child’s symptoms or developmental patterns warrant specialty evaluation. They track growth curves, monitor developmental milestones, and can recognize when something requires deeper investigation.

Once a referral is made, our experts—currently around 170 professionals—work together to provide comprehensive evaluation and care. From the eligibility specialists who help families navigate insurance coverage to the nurses providing direct patient care to the physicians developing treatment plans, every team member contributes to Cure 4 The Kids Foundation’s mission of filling healthcare gaps in Southern Nevada.

Building a Bright Future for Pediatric Healthcare in Nevada

Looking ahead, Cure 4 The Kids Foundation continues to expand based on our community’s needs. Our leadership, including Dr. Lasky, envisions a future where Nevada families won’t need to travel out of state for specialized treatments like certain types of radiation therapy or bone marrow transplantation. We are actively building partnerships with other healthcare organizations coming to the region, including plans for collaboration with a potential new children’s hospital.

Our organization’s growth isn’t just about adding services; it’s about maintaining excellence while expanding access. As Dr. Lasky emphasizes, our focus remains on providing the highest quality care while making that care as accessible as possible to all Nevada families who need it.

At Cure 4 The Kids Foundation, providing cutting-edge pediatric medical care is just part of what we do. We provide crucial services and support rooted not only in science but in empathy, treating families as whole units, understanding the emotional and practical challenges they face, and providing comprehensive support through some of life’s most difficult journeys. 

In a city known for entertainment and hospitality, Cure 4 The Kids Foundation is proud to stand as a beacon of hope for families facing the unexpected, providing world-class pediatric specialty care right here in Las Vegas.

Cure 4 The Kids strengthens pediatric care in Nevada with new geneticist

Posted on by David Frye

By Grace Da Rocha (contact)
Saturday, March 8, 2025 | 2 a.m.

Doctor Mark Eugene Nunes

Dr. Mark Nunes, a family geneticist who treats those at risk for genetic disorders or cancers, feels right at home in his new position in Las Vegas.

Nunes, who recently joined Cure 4 The Kids Foundation and is believed to be the first full-time geneticist in Nevada, will fill a void in the local medical community, his colleagues said.

“This is truly a game-changer for our community,” said Annette Logan-Parker, founder and chief innovation and advocacy officer at the foundation. “The rapidly advancing fields of genetics and genomics offer remarkable insights that will enhance our ability to provide individualized care for our pediatric and adult patients.”

Nunes’ more than two decades in the profession have taken him to Washington, Virginia, Ohio and California — where he most recently served as director of medical genetics and metabolism at Valley Children’s Hospital in Madera, Calif., overseeing state-sponsored prenatal genetic clinics and the creation of specialized multidisciplinary clinics focused on the genetic causes of cardiovascular and neurological conditions.

He is bringing that expertise here.

“(Genetics) is a fantastic specialty,” Nunes said. “It’s a little bit psychiatric; it’s a little bit interpreting weird genetic language into something that families and patients are able to understand; it’s a little bit of social work; it’s a little bit of cutting-edge therapy and treatment and being aware of what the new developments are.”

Nunes said he would help families, children and adults with genetic disorders who were previously forced to travel out of state for medical diagnosis and treatment services.

There are over 7,000 known rare diseases, which are defined as conditions affecting fewer than 200,000 individuals in the United States, according to the Nevada Rare Disease Advisory Council. An estimated 25 million to 30 million Americans live with a rare disease, with around 50% of them being children who could later experience challenges in diagnosis, treatment and quality of life for themselves and their families.

In Nevada, there’s no readily available data on the prevalence of rare diseases, but the Nevada Rare Disease Advisory Council has begun efforts to gather in-state data on these conditions.

Cure 4 the Kids Foundation — headquartered in Las Vegas on the Roseman University of Health Sciences campus — was founded in 2007 as a nonprofit health care facility treating and studying children with cancers and rare diseases.

The Nevada Rare Disease Advisory Council said treatment for rare diseases “can impose a substantial financial burden on individuals, families and health care systems,” creating a barrier for people to even receive care.

Dr. Joseph Lasky III, a medical director at Cure 4 the Kids, explained that the foundation had already been serving and caring for patients with genetic disorders when he started working with the organization in 2017. But there was never an in-house geneticist to guide patients on the management of their disease.

One family that Lasky is caring for frequently traveled from Las Vegas to Los Angeles for diagnostic testing and spinal tap treatments on their three sons, who live with Niemann-Pick disease Type C, a rare progressive genetic disorder where the body cannot transport cholesterol and other fatty substances inside of cells.

Before hiring Nunes, the organization was regularly relying on Dr. Nicola Longo from Utah, who still makes appearances at Cure 4 the Kids Foundation.

The waitlist for families seeking guidance on treatment from Longo soon went from six months to a year, and it’s been “continuously growing” ever since, Lasky said.

The waitlist wasn’t serving the community well, Cure 4 the Kids reasoned, and that became one of the main drivers for hiring an in-house family geneticist.

“With Dr. Nunes part of the Cure 4 the Kids Foundation team, these services are finally accessible to Nevadans on a full-time basis,” Logan-Parker said. “This is a significant win not only for our patients but also for the health care landscape of Nevada.”

Nunes hopes to embed himself within the medical community in the state, he said. In a constantly advancing field like genetics, having a group to discuss advancements, patient care and other important topics is crucial for learning.

Connecting the genetics community in Nevada could bring even more advancements to the field, allowing the state to “leapfrog” in medical infrastructure to treat those with rare conditions, he added.

Nunes wants to implement strategies for reaching patients in rural areas, and push for the licensure of genetic counselors — health care professionals who use family history to assess an individual’s risk for inherited conditions.

Lasky and Logan-Parker are confident that Nunes’ presence here will not only be a boon for Cure 4 the Kids Foundation and its patients, but the state as a whole.

“Since the population has really exploded here, we’re just simply getting more families and bigger communities here all the time, and so the need is that much greater,” Lasky said. “Having Nunes here now is just gonna make communication and the care of these families just so much better. He’s very passionate for the care of both children and adults with these diseases, and I think it totally fits with our mission to provide the best care for these families.”

C4K Welcomes Dr. Mark Nunes, Nevada’s First Full-Time Family Geneticist

Posted on by Amber Willams

January 22, 2025

LAS VEGAS – January 22, 2025 – In a continuing effort to bring essential medical specialties to the people of Nevada, Cure 4 The Kids Foundation (C4K) is proud to welcome Mark Eugene Nunes, MD, the state’s first full-time family geneticist.

As C4K’s Director of Genetics, Genomics, and Metabolism, Dr. Nunes will see families , children and adults with genetic disorders who previously were forced to travel out of state to access these highly individualized medical diagnostic and treatment services.

There are around 20,000 genes or instructions in every person determining how their body is made and functions. A problem with just one of these genes is sufficient to cause one of around 7,000 rare genetic or heritable disorders. Utilizing his decades of expertise, Dr. Nunes will assist in the recognition, evaluation, diagnosis, management, and treatment of these inherited disorders. Working closely with Genetic Counselors, Dr. Nunes helps families understand the implications of genetic test results, and the chance an inherited disorder may recur in a family. Geneticists provide resources for and teach families, their healthcare providers, and specialists about the implications of a  rare disorder. As a Genomics specialist, Dr. Nunes can help guide how an individual’s genetic profile can influence their risk and management of rare and common health conditions and is already working with the Nevada Rare Disease Advisory Council to use genomics in public health.

“This is truly a game changer for our community,” said Annette Logan-Parker, Founder and Innovation and Advocacy Officer at Cure 4 The Kids Foundation. “The expanding field of genetics and genomics offers incredible insight for our medical staff and, ultimately, our pediatric and adult patients.  Until now, these services were only available to Nevadans on a limited basis. With Dr. Nunes now part of C4K, this is a win for our current and future patients as well as for the State of Nevada.”

Dr. Nunes is board-certified in both Pediatrics and Clinical and Molecular Genetics. Most recently, he served as Director of Medical Genetics and Metabolism at Valley Children’s Hospital in Madera, California. His role included the supervision of State-sponsored prenatal genetic clinics and the creation of specialized multidisciplinary clinics focused on cardiogenetic and neurogenetic cases. Dr. Nunes helped successfully lobby the California Department of Public Health to expand non-invasive prenatal testing (NIPT) for all pregnant women in California and helped pilot prenatal whole genome sequencing (WGS).

Before Valley Children’s Hospital, Dr. Nunes was Division Chief of Medical Genetics at Kaiser Permanente in San Diego and a partner physician at Southern California Permanente Medical Group. Dr. Nunes’ first genetics job out of training was as an active-duty Pediatrician and Clinical Geneticist in the Air Force, where he also directed the USAF Molecular Diagnostic Laboratory. He helped successfully petition the Surgeons General in cases of genetic discrimination in the military, which helped inform the Genetics Information Nondiscrimination Act (GINA) of 2008.

Dr. Nunes brings a wealth of knowledge with more than two decades of experience in appointed academic roles specializing in Pediatrics and Genetics at the University of California, San Diego (UCSD), Ohio State University, Uniformed Services University of Health Sciences in Maryland, and the University of Washington. 

As a thought leader in the field of Genetics and Genomics, Dr. Nunes has shared his research and experience in multiple peer-reviewed journals including Human Genetics, American Journal of Human Genetics and Human Molecular Genetics, and the National Library of Medicine sponsored website, GeneReviews.

Dr. Nunes earned his medical degree from the F. Edward Herbert School of Medicine at Uniformed Services University of the Health Sciences in Maryland and completed his internship and residency in Pediatrics at the David Grant US Air Force Medical Center. He completed fellowships in Clinical Genetics, Molecular (DNA Laboratory) Genetics, and Teratology at the University of Washington and Child Protection and Forensic Pediatrics at Inova Fairfax Hospital for Children in Virginia.

Dr. Nunes was born in England to a U.S. Air Force airman and base Librarian and raised in Hawaii and Northern California. Nunes and his wife have been married for 25 years and are raising four children.

Hemophilia Patient Receives FDA Approved Gene Therapy Treatment

Posted on by David Frye
Members of the Cure 4 The Kids Foundation medical team completed Nevada’s first successful gene therapy IV infusion for a hemophilia B patient.

July 31,2024 

Cure 4 The Kids Foundation (C4K) announced it has completed Nevada’s first successful infusion of Hemgenix®, a gene therapy option for adult patients with hemophilia B — a genetic bleeding disorder in which people do not produce a protein needed to create blood clots.

Depending on severity, a hemophilia B patient can require multiple infusions of factor IX on a weekly basis to prevent a bleed. However, after the one-time Hemgenix® infusion, the gene therapy is expected to enable the individual’s body to produce their own Factor IX, eliminating weekly infusions.

Under the medical supervision of Dr. Aimee Foord, director of C4K’s bleeding and clotting clinic along with Dr. Joseph Lasky, medical director of C4K and the entire C4K medical team, the infusion was completed in C4K’s infusion suite.

The patient, a 39-year-old male from Arizona, will be monitored on a regular basis to ensure the treatment’s success.

“This treatment is ground-breaking for a number of reasons,” said Annette Logan-Parker, chief innovation and advocacy officer at C4K. “Most importantly, Hemgenix® gives the patient a freedom from daily or weekly factor infusions they have not had since their original hemophilia diagnosis. From a larger perspective, being approved to provide this life-changing treatment is another example of how Cure 4 The Kids Foundation is bringing innovation and cutting-edge therapies to the patients of Nevada and the western United States.”

Hemgenix® (etranacogene dezaparvovec-drlb) is the first gene therapy for the treatment of adults with hemophilia B who currently use factor IX prophylaxis therapy, or have current or historical life-threatening bleeding, or have repeated, serious spontaneous bleeding episodes. Although Hemgenix® is not a cure for hemophilia B patients, the medical advancement may reduce, if not, eliminate weekly preventative factor replacement and bleeds.

Hemgenix® relies upon a gene transfer that is administered through intravenous (IV) infusion. The approach introduces a “working” or functional gene into liver cells to “instruct them” to produce factor IX protein, which is deficient in patients with hemophilia B, and which helps form blood clots to prevent prolonged, excessive or life-threatening bleeding.

Hemgenix® has the potential to fundamentally transform the treatment paradigm through a single, one-time infusion in people living with hemophilia B by addressing the genetic cause of the condition.

Because the genes that cause hemophilia A and B are located on the sex-determining X chromosome, the disorder disproportionately affects males. According to the U.S. Centers for Disease Control and Prevention (CDC), as many as 33,000 males in the United States are living with hemophilia. Hemophilia B is a rarer form of the disorder, found in just 3.7 cases per 100,000 males.

VTS-270-303 Niemann-Pick Disease, Type C

Posted on by admin

Genetics

Protocol:VTS-270-303

Condition or Disease: Niemann-Pick Disease, Type C

Study Type: Interventional (Clinical Trial)

Status: Opening Mid 2019

Study Title: An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ë_-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease

Principal I investigator: Alan Ikeda, MD

More Info: //clinicaltrials.gov/ct2/show/NCT03687476

VTS-270-001 Niemann-Pick Disease, Type C

Posted on by admin

Genetics

Protocol:VTS-270-001

Condition or Disease: Niemann-Pick Disease, Type C

Study Type: Expanded Access

Status: Open for enrollment

Study Title: An Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-ë_-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC)

Principal I investigator: Alan Ikeda, MD

More Info: //clinicaltrials.gov/ct2/show/NCT03643562