A Charlotte baby became the first at UNC Medical Center in Chapel Hill, N.C. to receive a breakthrough gene therapy treatment for spinal muscular atrophy (SMA), after his condition was discovered through the Early Check newborn screening pilot study.
It was a pregnancy that went relatively smooth. No red flags. No urgent ultrasounds. But, for this one family of Charlotte, N.C., that sense of apprehension was always lurking.
It was like I was waiting for the other shoe to drop. After all that we went through with our first child, once we had our son, it seemed too easy to feel like everything was normal, said the mom, who wishes to be anonymous.
Their first child was born with health issues that went undetected during the moms pregnancy, and it was a surprise at birth.
So, my pregnancy with my second child, my son, was super simple aside from the fact that I would consider myself slightly traumatized from what happened with my oldest. Other than that, the pregnancy was easy and enjoyable, she said.
Their son was born February 25th, 2021, perfect in every way, at least on the outside. Around this time the parents received an envelope in the mail informing them about Early Check, a pilot study focused on screening newborns for rare health conditions, and how parents could sign their babies up prenatally or postnatally.
After speaking with our pediatrician, and realizing how enrolling our son in this study could make a difference, we decided to register, said the mom, whose intuition also played a role in her familys decision. Little did she know her gut decision would allow her child to live a more normal life.
The pilot study is in collaboration between RTI International, North Carolina State Laboratory of Public Health (NCSLPH), and three major universities the University of North Carolina at Chapel Hill, Duke University and Wake Forest University. Among many other rare conditions, Early Check launched screening for spinal muscular atrophy (SMA) in October 2018 throughout the spring of 2021.
With Early Check, we started including SMA because it wasnt a part of the general newborn screening for the state, so it was a pilot to see how it could work and to see if we could identify this condition in newborns, said Cynthia Powell, MD, pediatric geneticist, UNC site principal investigator for Early Check.
Results No Parent Wants to Hear
When their baby was three-weeks-old, the parents registered their son to be a part of the study. Four days later, they received a phone call.
It was one of those really nice spring days, a Friday afternoon. We were out getting ice cream and when we got back in the car, we both had missed calls. After listening to the voicemail, my stomach dropped, the mom said.
Their son received an abnormal newborn screening result for SMA, a rare genetic disorder caused by deficiency of the survival motor neuron protein (SMN1), resulting in progressive degeneration and irreversible loss of cells in the spinal cord and brainstem. Without treatment, the decreased level of the SMN protein leads to muscle weakness, and wasting atrophy of muscles used for movement. Most babies diagnosed with this disorder will have weak mobility, typically shown in the extremities, such as limp legs and arms, before six-months of life. This debilitating and often fatal muscle weakness can lead to an individual not being able to perform the basic functions of life, like breathing and swallowing, eventually leading to death by two or three-years-old. SMA is the leading cause of infant mortality from a single gene disorder, and its prevalence is one per 10,000 births globally.
This is a pretty devastating genetic disease, said Zheng (Jane) Fan, MD, pediatric neurologist, co-investigator for the Early Check pilot study. The severity of the disease depends on the genetic mutation subtype. For SMA babies, they have no copies of the SMN1 gene. Their disease severity depends on the number of copies of the SMN2 gene, which serves as a backup copy for the SMN1 gene, she said.
The Early Check results showed that the son had an absent SMN1 gene. A follow-up appointment was scheduled for the family to visit UNC School of Medicines Clinical & Translational Research Center (CTRC) the following Tuesday for confirmatory testing and to see how many copies of the SMN2 gene were present. For the parents, it was a long, grueling three days full of questions about whether or not their son was going to live.
We basically mourned the loss of our son that entire weekend before our visit to Chapel Hill, said the dad.
The confirmatory testing tells how many copies of the SMN2 gene are present. If there are three or more copies of the SMN2 gene, a baby could have a moderate form of SMA, whereas if there are two or less copies of SMN2, it could lead to a more severe form. Results showed that the son had three back-up copies of the SMN2 gene.
All the types of SMA are caused by the same gene variant, but are different in severity that will influence the age of onset and how quickly and severe it will manifest. Classification is based on the clinical age of onset and rate of regression, said Yael Shiloh-Malawsky, MD, pediatric neurologist and associate professor in the UNC Department of Neurology. With the more severe form, a child will never gain the milestone of sitting. This is Type I. Type II are kids who will be able to sit, but will never gain independent walking and later on can lose the ability to sit without help. Type III are children who gain walking, and later on will have decline in their strength.
Just looking at the child with the naked eye, no one could tell that he had a debilitating disorder forming on the inside. No symptoms were shown at all. For this particular case, the son fell within the Type II range.
For babies with Type I or II, the recommendation is to start treatment as soon as possible, said Dr. Fan.
We didnt even think treatment was an option, said the mom as her eyes begin to fill with tears.
During our first appointment with Dr. Fan, she showed us videos of children jumping rope and running. Children who had SMA, but received treatment. We never thought our son was going to be able to do any of those things, her voice trembled.
Life-Saving New Treatments for SMA
New medical advances are changing the course of SMA by helping thousands of children diagnosed with the disease experience better outcomes. For this family specifically, treatments were narrowed down to two choices; Spinraza, an FDA approved drug at $125,000 per one dose that is continued every four months for the duration of the individuals life, or they could choose the recent FDA approved gene therapy called Zolgensma, a $2-million dollar one-time treatment.
Time was of the essence. With SMA, once symptoms start to appear, its a red flag that motor neurons have already been lost. A decision needed to be made quickly.
After discussions with our pediatrician, Dr. Fan, Dr. Shiloh, and other medical professionals, we decided to choose Zolgensma, said the mom.
Zolgensma, the first gene therapy approved to treat children with SMA less than two-years-old, is a one-time intravenous infusion that takes about an hour. It involves a safe virus, AAV9, that delivers a fully functional human SMN1 gene to the targeted motor neurons, which in turn improves muscle movement and function, and also improves survival and quality of life.
Multiple testing went underway to see if the child was eligible for the Zolgensma treatment.
If the baby had antibodies against the AAV9 virus, then the gene therapy wouldnt have been effective, Dr. Fan said. This is because once the therapy penetrates the blood, the antibodies would kill the virus, even though the virus was harmless and carrying potentially life-saving cargo.
Luckily, test results showed that the baby did not have antibodies against the virus. It took two weeks for the treatment to be approved from insurance and to be delivered to UNC Childrens Hospital. Then on April 21st at eight-weeks-old, the baby became the first at UNC Medical Center to receive the life-saving gene therapy treatment.
I have a real appreciation for our doctors. They are so brilliant and they want to use that towards the good of our children. Theres hope, said the dad.
From checking in, receiving the treatment, to monitoring for side effects, the whole process took about seven hours. After staying in town for a couple days, the family headed back home. However, the son was monitored continuously to check for potential side effects the biggest being elevated liver enzymes, due to an inflammatory response.
This baby tolerated the gene therapy treatment well, with no apparent side effects and his liver enzymes remained in normal range throughout the monitoring period, Dr. Fan said.
For children diagnosed with SMA Type II, muscle weakness develops between ages 6 and 12 months. However, because the Early Check newborn screening was available for SMA and the child received the gene therapy early before the onset of symptoms, the outcome is in his favor.
If the child had been born in a different state that already started newborn screening on a population basis, he would have been screened, but because North Carolina hadnt started screening for SMA yet, he wouldve been missed if his family hadnt signed up for the study. Its pretty remarkable, said Dr. Powell.
As of May 1, 2021, SMA has been part of newborn screening statewide, and North Carolina is among the more than 30 states with this screening.
Our expectation is that this child will have normal development, normal strength like any other baby, said Dr. Shiloh-Malawsky.
For now, the parents continue to be observant of their son while being cautiously optimistic.
Its the nature of parenting that youre going to worry about your child, said the mom. I was thinking it was a death sentence when I heard about my sons diagnosis. Were only three months into it, but from what the doctors have said, it doesnt have to be a death sentence. My son can live a fulfilling life. Were grateful for that.
So far, hes right on track for his physical therapy evaluation, and recently, he rolled over for the very first time, she said, and she smiled.
Written by Brittany Phillips, UNC Health Communications Specialist
Read more from the original source:
Baby First at UNC to Receive Gene Therapy for SMA, Thanks to Early Check Newborn Screening | Newsroom - UNC Health and UNC School of Medicine
- BENITEC BIOPHARMA INC. Management's Discussion and Analysis of Financial Condition and Results of Operations (form 10-Q) - Marketscreener.com - February 13th, 2023 [February 13th, 2023]
- CENTOGENE to Participate in Upcoming Conferences in February in the Lead Up to Rare Disease Day - Marketscreener.com - February 7th, 2023 [February 7th, 2023]
- Gene | Definition, Structure, Expression, & Facts | Britannica - January 27th, 2023 [January 27th, 2023]
- New gene therapy delivers treatment directly to brain - January 27th, 2023 [January 27th, 2023]
- Indian Pharma Congress: Gene-cell therapy, preventive medicine future of health care, says expert - Economic Times - January 25th, 2023 [January 25th, 2023]
- A blood test that identifies people at higher risk of miscarriage? Thats the goal of this award-winning Rutgers med student. - The Philadelphia... - January 19th, 2023 [January 19th, 2023]
- Gene Therapy: Genes As Medicine | Pfizer - January 6th, 2023 [January 6th, 2023]
- How Genomics will ensure a risk-free and beneficial treatment for good health and well-being - The Financial Express - December 28th, 2022 [December 28th, 2022]
- Regenerative Medicine Advanced Therapy Designation | FDA - December 18th, 2022 [December 18th, 2022]
- 3576 - Gene ResultCXCL8 C-X-C motif chemokine ligand 8 [ (human)] - November 23rd, 2022 [November 23rd, 2022]
- Study identifies new gene that drives colon cancer - EurekAlert - October 17th, 2022 [October 17th, 2022]
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke | European Journal of Human Genetics - Nature.com - October 17th, 2022 [October 17th, 2022]
- The challenges of translating CRISPR to the clinic - Labiotech.eu - October 17th, 2022 [October 17th, 2022]
- Editas Medicine Presents Preclinical Data on EDIT-103 for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa at the European Society of Gene... - October 17th, 2022 [October 17th, 2022]
- 'We have to find a way': FDA seeks solutions to aid bespoke gene therapy - BioPharma Dive - October 17th, 2022 [October 17th, 2022]
- Mathematical model could bring us closer to effective stem cell therapies - Michigan Medicine - October 17th, 2022 [October 17th, 2022]
- Approval, Commercialization Highlighted at Cell & Gene Meeting on the Mesa - Genetic Engineering & Biotechnology News - October 17th, 2022 [October 17th, 2022]
- CANbridge-UMass Chan Medical School Gene Therapy Research in Oral Presentation at the European Society of Gene and Cell Therapy (ESGCT) 29th Annual... - October 17th, 2022 [October 17th, 2022]
- Depression Treatment: How Genetic Testing Can Help Find the Right Medication - Dunya News - October 17th, 2022 [October 17th, 2022]
- The Risk-Reward Proposition for CGT Clinical Trials - Applied Clinical Trials Online - October 17th, 2022 [October 17th, 2022]
- Precision Medicine Could Get Even More Precise With Allarity Therapeutics Next-Generation Diagnostics - Benzinga - October 17th, 2022 [October 17th, 2022]
- Decibel Therapeutics Receives FDA Clearance of IND Application for DB-OTO, a Gene Therapy Product Candidate Designed to Provide Hearing to Individuals... - October 17th, 2022 [October 17th, 2022]
- Time for your medicine: unlocking the power of our body clocks - The Guardian - October 17th, 2022 [October 17th, 2022]
- Replay establishes distinguished Scientific Advisory Board of genomic medicine and cell therapy experts - Yahoo Finance - October 17th, 2022 [October 17th, 2022]
- Scientists Reappraise the Role of Zombie Cells That Anti-aging Medicine Has Sought to Eliminate - Neuroscience News - October 17th, 2022 [October 17th, 2022]
- Forge Biologics Announces Updated Positive Clinical Data in RESKUE, a Novel Phase 1/2 Gene Therapy Trial for Patients with Krabbe Disease - Business... - October 17th, 2022 [October 17th, 2022]
- Gene Expression Signatures Are Analyzed for Biomarkers of Response in HCC - Targeted Oncology - October 17th, 2022 [October 17th, 2022]
- NHS England World-first national genetic testing service to deliver rapid life-saving checks for babies and kids - NHS England - October 17th, 2022 [October 17th, 2022]
- The proteinprotein relationship that could mend a broken heart - RegMedNet - October 17th, 2022 [October 17th, 2022]
- Study finds microprotein correlated to Alzheimers risk - Daily Trojan Online - October 11th, 2022 [October 11th, 2022]
- Passage Bio Announces Appointment of William Chou, M.D. as Chief Executive Officer - Yahoo Finance - October 11th, 2022 [October 11th, 2022]
- Gene Therapy Rapidly Improves Night Vision in Adults with Congenital Blindness - Newswise - October 11th, 2022 [October 11th, 2022]
- Scientists Discover Protein Partners that Could Heal Heart Muscle | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- The Pros and Cons of Lentiviral and Adeno-Associated Viral Vectors - The Medicine Maker - October 11th, 2022 [October 11th, 2022]
- Insights & Outcomes: Foreign DNA, quantum potholes and relapsing fever - Yale News - October 11th, 2022 [October 11th, 2022]
- Expediting IND applications with drug master files - BioPharma Dive - October 11th, 2022 [October 11th, 2022]
- UNC School of Medicine Awarded $3 Million to Lead Study to Reduce PTSD Frequency, Severity | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- Lineage to Present at Alliance for Regenerative Medicine 2022 Cell & Gene Meeting on the Mesa - businesswire.com - October 8th, 2022 [October 8th, 2022]
- The Next Crispr Gene Editing IPO Could Be Near - Henry Herald - October 8th, 2022 [October 8th, 2022]
- 10-year CRISPR anniversary: How gene editing revolutionized medicine, and what lies ahead - Genetic Literacy Project - October 8th, 2022 [October 8th, 2022]
- Blood from a baby at birth can be gene sequenced to prevent diseases - USA TODAY - October 8th, 2022 [October 8th, 2022]
- What doctors wish patients knew about breast-cancer prevention - American Medical Association - October 8th, 2022 [October 8th, 2022]
- Growth in Cell and Gene Therapy Market - Pharmaceutical Technology Magazine - October 8th, 2022 [October 8th, 2022]
- Gene Editing Service Market 2022 : Top Players to Reflect Impressive Growth Rate till 2029: Caribou Biosciences, CRISPR Therapeutics, Merck KGaA,... - October 8th, 2022 [October 8th, 2022]
- Tip Sheet: $78 million to support new precision oncology institute, update on experimental gene therapy for herpes and the launch of Fred Hutch's new... - October 8th, 2022 [October 8th, 2022]
- Cell and Gene Therapy: Rewriting the Future of Medicine - Technology Networks - October 2nd, 2022 [October 2nd, 2022]
- Growth in Cell and Gene Therapy Market - BioPharm International - October 2nd, 2022 [October 2nd, 2022]
- CRISPR Therapeutics Announces FDA Regenerative Medicine Advanced Therapy (RMAT) Designation Granted to CTX130 for the Treatment of Cutaneous T-Cell... - October 2nd, 2022 [October 2nd, 2022]
- BioMarin Resubmits Biologics License Application (BLA) for Valoctocogene Roxaparvovec AAV Gene Therapy for Severe Hemophilia A to the FDA - PR... - October 2nd, 2022 [October 2nd, 2022]
- Fighting Breast and Ovarian Cancer With a Lupus Antibody - Yale School of Medicine - October 2nd, 2022 [October 2nd, 2022]
- This gene therapy company is testing new tech to 'switch off' diabetes and obesity with a pill - Euronews - October 2nd, 2022 [October 2nd, 2022]
- Tenaya Therapeutics to Participate in Inaugural Hypertrophic Cardiomyopathy Medical Societys 2022 Scientific Sessions - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Risk of Alzheimer's dementia may be predicted with help of new tool Washington University School of Medicine in St. Louis - Washington University... - October 2nd, 2022 [October 2nd, 2022]
- Tiny Sea Creature's Genes Shed Light on Evolution of Immunity - UPMC - October 2nd, 2022 [October 2nd, 2022]
- Who will get the call from Stockholm? It's time for STAT's 2022 Nobel Prize predictions - STAT - October 2nd, 2022 [October 2nd, 2022]
- Excision BioTherapeutics Awarded California Institute for Regenerative Medicine (CIRM) Grant to Support Ongoing Phase 1/2 Trial Evaluating EBT-101 as... - October 2nd, 2022 [October 2nd, 2022]
- NeuroVoices: Emma Ciafaloni, MD, on the Vast Expansion of Innovative Approaches to Duchenne Muscular Dystrophy - Neurology Live - October 2nd, 2022 [October 2nd, 2022]
- COVID mRNA Jabs and Testing Kicked Off This Industry of Drug Development: Here's What You Need to Know - The Epoch Times - October 2nd, 2022 [October 2nd, 2022]
- Kidney resident macrophages have distinct subpopulations and occupy distinct microenvironments - University of Alabama at Birmingham - October 2nd, 2022 [October 2nd, 2022]
- Nobel Prize for medicine: the full list of winners - The National - October 2nd, 2022 [October 2nd, 2022]
- The surprising link between circadian disruption and cancer may have to do with temperature - EurekAlert - October 2nd, 2022 [October 2nd, 2022]
- The global live cell imaging market is expected to grow at a CAGR of 8.44% during 2022-2027 - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Chroma Medicine Announces Formation of Scientific Advisory Board of Global Experts in Gene Editing and Cell and Gene Therapy - PR Newswire - September 20th, 2022 [September 20th, 2022]
- Ring Therapeutics Announces Issuance of U.S. Patent for its Anellovector Compositions - Yahoo Finance - September 20th, 2022 [September 20th, 2022]
- Cholesterol gene mutation: Why would a healthy 27-year-old have severe heart problems? - 69News WFMZ-TV - September 20th, 2022 [September 20th, 2022]
- Gene Therapy for Severe Hemophilia B Could Be More Cost Effective Than Current Treatments - Managed Healthcare Executive - September 20th, 2022 [September 20th, 2022]
- AVROBIO Receives Rare Pediatric Disease Designation from U.S. Food and Drug Administration (FDA) for First Gene Therapy in Development for Cystinosis... - September 20th, 2022 [September 20th, 2022]
- The Biggest CGT Breakthroughs Through the Eyes of Our 2022 Power List - The Medicine Maker - September 20th, 2022 [September 20th, 2022]
- Leading Virus Researcher to Chair UVA's Department of Microbiology, Immunology and Cancer Biology - UVA Health Newsroom - September 20th, 2022 [September 20th, 2022]
- Work remains on Tay-Sachs and other Ashkenazi genetic disorders J. - The Jewish News of Northern California - September 20th, 2022 [September 20th, 2022]
- Study Shows Genetic Link to Moving to the Beat of Music - Newswise - September 20th, 2022 [September 20th, 2022]
- Viewpoint: In the post Roe v Wade world, what changes should a biology textbook writer make to address the medical repercussions of Dobbs? - Genetic... - September 20th, 2022 [September 20th, 2022]
- Alnylam Receives Approval in Europe for AMVUTTRA (vutrisiran) for the Treatment of Hereditary Transthyretin-mediated (hATTR) Amyloidosis in Adult... - September 20th, 2022 [September 20th, 2022]
- CSL flexes gene therapy muscle with latest drug - Sydney Morning Herald - September 20th, 2022 [September 20th, 2022]
- The MIT Press releases new book on the science of the heart from cardiac expert Dr. Sian Harding - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Global Pharmaceutical Contract Manufacturing Market is projected to reach a market value of US$329.7 Billion in 2032: Visiongain Reports Ltd - Yahoo... - September 20th, 2022 [September 20th, 2022]
- Alzheon Reports Industry-Leading Biomarker, Brain Preservation and Clinical Effects Following 12 Months of Treatment in Phase 2 Trial of Oral ALZ-801... - September 20th, 2022 [September 20th, 2022]
- Do You Have Lung Cancer With An EGFR Mutation? If So, The Drug Tagrisso Might Be Right For You Based On New Results From A 'Practice Changing' Trial -... - September 20th, 2022 [September 20th, 2022]
- Getting rid of unwanted transformed cells: Possible new directions in cancer therapy - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Sven Kili on reconvening with the ISCT - The Medicine Maker - September 14th, 2022 [September 14th, 2022]