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Center for Gene Therapy

Micro-dystrophin: A Small Gene With Big Promise
 Micro-dystrophin: A Small Gene With Big Promise 1024 632 Abbie Miller
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SRP-9001 for Duchenne muscular dystrophy supplies a functional dystrophin gene via AAVrh74 gene therapy. In 1969, Jerry Mendell, MD, was working at the National Institute of Neurological Disorders and Stroke (NINDS) when he saw his first patient with Duchenne muscular dystrophy (DMD). DMD, a severe form of muscular dystrophy caused by a mutation in the…

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Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS)
 Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) 1024 577 Jessica Nye, PhD
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Derived cells from patients with NEDAMSS exhibit perturbed cellular respiration and poor neuronal survival, both of which can be improved with CuATSM treatment. NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) is a rare neurological disorder discovered in 2018 with only 25 formally diagnosed patients worldwide. It is primarily caused by…

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Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy
 Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy 1024 575 Lauren Dembeck
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Duchenne muscular dystrophy (DMD) is a devastating progressive muscle-wasting disease that leads to loss of motor and cardiorespiratory function. The disease is caused by mutations in the DMD gene that result in the loss of expression of the dystrophin protein, which plays a critical role during contraction and relaxation of muscle. To date, the U.S.…

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Featured Researcher — Allison Bradbury, MS, PhD
 Featured Researcher — Allison Bradbury, MS, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
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Allison Bradbury, MS, PhD, is an accomplished principal investigator in the Center for Gene Therapy at Nationwide Children’s Hospital, but her introduction to medical research and the field of rare neurologic diseases wasn’t at school — it was in her great uncle’s garage, when his work as a veterinary pathologist led him to identify an inherited…

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A Single-Dose Cancer Immunotherapy via Gene Transfer
 A Single-Dose Cancer Immunotherapy via Gene Transfer 150 150 Mary Bates, PhD
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Researchers at Nationwide Children’s Hospital report proof-of-principle results for a new gene therapy cancer treatment. The off-the-shelf, single-dose immunotherapy serves as an alternative to CAR-T therapy and can be engineered to be on-demand. T cells redirected to cancer cells either via a chimeric antigen receptor (CAR-T) or a bispecific molecule have been game-changers in treating…

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When Every Week Matters: Advancing a Treatment to the Clinic
 When Every Week Matters: Advancing a Treatment to the Clinic 1024 491 Natalie Wilson
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Illustrations of clock faces at different times and angles

Researchers and regulatory experts bring a potential new therapy for a deadly neurodegenerative disease from IND application to clinical trial enrollment in a matter of weeks, setting a new standard in translating therapies from bench to bedside. In October 2021, the Office of Research Regulatory Affairs (ORRA) at Nationwide Children’s Hospital submitted an Investigational New…

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Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases
 Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases 150 150 Jessica Nye, PhD
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According to the National Institutes of Health (NIH), nearly 7,400 diseases have been identified and classified as “rare” or “orphan” — “rare” because each afflicts fewer than 200,000 people in the United States and “orphan” because drug companies, unlikely to recoup research and development costs from such small patient populations, have historically found them too…

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Featured Researcher — Scott Harper, PhD
 Featured Researcher — Scott Harper, PhD 150 150 Natalie Wilson
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Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat…

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Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1
 Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1 1024 575 Abbie Miller
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Replacement of CAPN3 gene via AAV-mediated gene therapy resulted in significant, robust improvements in functional outcomes and muscle physiology in the preclinical model. LGMDs are a rare form of muscular dystrophy for which there is no treatment. As a heterogenous group caused by a number of mutations, the complexity of classification makes the disease challenging…

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The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay
 The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay 150 150 Lauren Dembeck
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Democratizing health care requires equal access to early identification of infant neurodevelopmental disorders.  Delayed diagnosis of disorders that involve developmental delays, such as cerebral palsy, can lead to lifelong disability. Yet not all families have access to health care facilities employing highly trained specialists who can test for these developmental delays. Infants from minority families…

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Antibodies to Spinal Muscular Atrophy Gene Therapy Vector May Dissipate, Allowing More Children to Receive Treatment
 Antibodies to Spinal Muscular Atrophy Gene Therapy Vector May Dissipate, Allowing More Children to Receive Treatment 1024 681 Katie Brind'Amour, PhD, MS, CHES
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sleeping infant

A review of antibody titers for SMA patients revealed that levels may decrease with time, potentially enabling delayed dosing for children who otherwise might have been excluded from life-saving gene therapy. Adeno-associated viral (AAV) vectors are used to deliver gene therapies such as onasemnogene abeparvovec-xioi (ZOLGENSMA®), a recently approved gene therapy for spinal muscular atrophy…

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How Have Respiratory Outcomes Changed With New Spinal Muscular Atrophy Treatments?
 How Have Respiratory Outcomes Changed With New Spinal Muscular Atrophy Treatments? 1024 575 Mary Bates, PhD
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Illustration of lungs on blue silhouette of upper chest on black background

Three new therapies are changing the prognosis for spinal muscular atrophy, but long-term monitoring of respiratory outcomes is still necessary.

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Cardiomyopathy in Mothers of Boys With Muscular Dystrophy
 Cardiomyopathy in Mothers of Boys With Muscular Dystrophy 1024 670 Mary Bates, PhD
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Female carriers of the genetic defect that causes muscular dystrophy in boys show evidence of cardiac fibrosis. An interdisciplinary team from Nationwide Children’s Hospital reports about half of women who carry the genetic defect responsible for muscular dystrophy show evidence of cardiac fibrosis. The study, published in the International Journal of Cardiology, suggests that cardiac muscle,…

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Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model
 Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model 1024 575 Lauren Dembeck
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Gene therapy shows promise for clinical benefit in demyelinating, neurodegenerative disease. Krabbe disease is an aggressive, incurable pediatric neurodegenerative disease caused by mutations in the galactosylceramidase (GALC) gene. Deficiency of the GALC protein activity leads to cytotoxic accumulation of a cellular metabolite called psychosine, which compromises normal turnover of myelin in the central and peripheral…

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New Newborn Screening Approach Allows for Earlier Detection of Menkes Disease
 New Newborn Screening Approach Allows for Earlier Detection of Menkes Disease 1024 575 Natalie Wilson
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Targeted next generation DNA sequencing can enable improved clinical outcomes for any genetic disorder not detectable through other biochemical newborn screening methods. Menkes disease is a rare, X-linked recessive pediatric disease caused by gene mutations of the copper transporter gene, ATP7A, leading to low levels of copper in infants’ blood and brain, as well as abnormal…

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An Expanded, Multicenter Look at Gene Therapy for Spinal Muscular Atrophy
 An Expanded, Multicenter Look at Gene Therapy for Spinal Muscular Atrophy 1024 575 Mary Bates, PhD
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Colorful illustration of gene therapy in action

New study confirms safety and efficacy in children under two years old. In May 2019, the U.S. Food and Drug Administration (FDA) approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy (SMA). Approval included all children with SMA under the age of two years; however, the gene therapy had only been…

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Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy
 Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy 150 150 Abbie Miller
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One-year data from the first four patients to receive a single dose of the rAAVrh74.MHCK7.micro-dystrophin gene therapy is published in JAMA Neurology. Researchers from Nationwide Children’s Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy…

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A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old
 A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old 1024 575 Abbie Miller
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boy with muscular dystrophy completing walk test

A prospective, multicenter study following 153 boys younger than 6 years old documents disease progression of Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. It affects males, occurring in 1/3,600 live-born infant boys. While some affected newborns may have mild hypotonia, other symptoms are rarely…

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How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies?
 How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies? 1024 575 Abbie Miller
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conceptual art of DNA

A conversation with Dennis Durbin, MD, MSCE chief scientific officer, Abigail Wexner Research Institute, Nationwide Children’s Hospital Nationwide Children’s has become an epicenter for gene therapy discovery and development. The discovery in 2009 that adeno-associated virus (AAV) could cross the blood-brain barrier was a milestone in the development of dozens of gene therapy products for neuromuscular…

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Unique Course Trains Young Physicians and Researchers in Muscle Disorders and Therapies
 Unique Course Trains Young Physicians and Researchers in Muscle Disorders and Therapies 150 150 Kevin Mayhood
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The annual myology course is designed to train the next generation of clinicians and lab scientists in the basics and the latest. Every year, more than 60 young trainees come to Nationwide Children’s Hospital for the annual Myology Course, an intensive, week-long introduction to muscle biology, disease and therapeutics. Hosted by Nationwide Children’s and The…

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Preventing the Development of Muscular Dystrophy Through Surrogate Gene Therapy
 Preventing the Development of Muscular Dystrophy Through Surrogate Gene Therapy 1024 683 Lauren Dembeck
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Researchers identify a key regulatory protein implicated in Galgt2 overexpression and begin to elucidate its protective mechanism against muscular dystrophy. Researchers at Nationwide Children’s Hospital have identified a small, soluble protein that can activate a human gene known to inhibit the development of muscular dystrophy when overexpressed in muscle. That is, when there is a…

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Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I
 Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I 150 150 Abbie Miller
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Spinal muscular atrophy type 1 (SMA1) is a rare neuromuscular disease in which 75 percent of affected children die or require permanent ventilation by 13.6 months. Researchers recently published the long-term outcomes of patients who received the investigational drug AVXS-101 – an adeno-associated virus serotype 9 mediated gene replacement therapy. Twelve children aged 1 to…

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Collaboration Key in Recent Advances for Batten Disease
 Collaboration Key in Recent Advances for Batten Disease 1024 683 Abbie Miller
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Batten disease (neuronal ceroid lipofuscinosis) is a collection of lysosomal storage disorders caused by a variety of genetic mutations. These disorders cause an accumulation of cellular “trash” to build up, ultimately causing the neurons to die. So far, scientists have identified 13 different versions of Batten disease, each with its own associated genetic mutation. Each version…

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DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy
 DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy 1024 575 Kevin Mayhood
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boy with muscular dystrophy completing walk test

Genome-wide association study identifies two variants that may yield therapies for children with DMD. Researchers at Nationwide Children’s have found that two DNA variants that play a role in gene regulation are associated with prolonged ability to walk in boys with Duchenne muscular dystrophy (DMD). Kevin Flanigan, MD, director of the Center for Gene Therapy,…

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Big Gains in FSHD Research: A Newly Published Model of FSHD and a Potential Gene Therapy to Improve Functional Outcomes
 Big Gains in FSHD Research: A Newly Published Model of FSHD and a Potential Gene Therapy to Improve Functional Outcomes 150 150 Abbie Miller
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The model aims to provide the basis for many future studies to bring therapeutic options to patients with FSHD. Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent dominantly inherited muscular dystrophy in the world. To date, there are no pharmacologic treatments available for the more than 850,000 people affected worldwide. Developing models to use for…

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Preclinical Gene Therapy Study Shows Muscle Restoration in Charcot-Marie-Tooth Disease Model
 Preclinical Gene Therapy Study Shows Muscle Restoration in Charcot-Marie-Tooth Disease Model 150 150 Kevin Mayhood
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Tests of NT-3 gene therapy on mouse models suggest potential to treat a host of muscle-wasting conditions.

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Can Gene Therapy Treat Dominantly Inherited Disorders?
 Can Gene Therapy Treat Dominantly Inherited Disorders? 1024 575 Abbie Miller
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Colorful illustration of gene therapy in action

Recent applications of adeno-associated virus (AAV) mediated gene therapy have focused mainly on correcting recessively inherited diseases. But what about dominantly inherited disorders? It looks like AAV could be a delivery mechanism for treating those genetic disorders, too. Most applications of AAV-mediated gene therapy research are in recessively inherited rare diseases. The affected individuals have…

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FDA APPROVAL: Gene Therapy Comes of Age
 FDA APPROVAL: Gene Therapy Comes of Age 1024 575 Abbie Miller
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Colorful illustration of gene therapy in action

UPDATED: May 2019 On May 24, 2019, the FDA approved Zolgensma (formerly AVXS-101), a first-of-its-kind gene therapy for spinal muscular atrophy. In the 13 months that have passed since this article first posted, the long-term outcomes of gene therapy for spinal muscular atrophy (SMA) have continued to bolster the community’s hope for the treatments. Now,…

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Phase 1 Study Shows Promise of Gene Replacement Therapy for Spinal Muscular Atrophy Type 1
 Phase 1 Study Shows Promise of Gene Replacement Therapy for Spinal Muscular Atrophy Type 1 1024 575 Abbie Miller
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The phase 1 clinical study shows that gene therapy extends survival of patients and supports achievement of milestones previously unseen in the natural course of the disease. A one-time intravenous infusion of the high dose of gene therapy extended the survival of patients with spinal muscular atrophy type 1 (SMA1), according to a study published in…

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Inside the Good Manufacturing Production Facility
 Inside the Good Manufacturing Production Facility 1024 575 Tiasha Letostak, PhD
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By removing a barrier to access – production of pharmaceutical products for clinical trial – the team at the GMP facility is bringing more treatments to rare diseases. A newly designed, 7,500 square foot clean room suite with multi-use viral vector and cell therapy capabilities is expediting the bench-to-bedside process of bringing life-saving treatments to…

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Oligodendrocytes Induce Motor Neuron Death in ALS
 Oligodendrocytes Induce Motor Neuron Death in ALS 150 150 Jeb Phillips
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A first-of-its-kind oligodendrocyte in vitro model shows that human cells normally supportive of motor neuron function play an active role in amyotrophic lateral sclerosis pathogenesis – and this discovery may point the way toward therapeutic timing and targets. A number of studies over the last decade have shown that cells which normally support motor neurons,…

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Visualizing Gene Therapy for SMA
 Visualizing Gene Therapy for SMA 150 150 Abbie Miller
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Spinal muscular atrophy (SMA), a degenerative neuromuscular disease, is the most common genetic cause of death for infants. Virtually all children affected with SMA type 1 die by 2 years of age. In 2014, Jerry Mendell, MD, director of the Center for Gene Therapy in the Research Institute at Nationwide Children’s Hospital, began a phase 1 gene transfer clinical…

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Gene Therapy’s Road to Redemption
 Gene Therapy’s Road to Redemption 150 150 Kelli Whitlock Burton
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Fifteen years ago, gene therapy suffered a highly visible fatality, leaving the field in shambles. Now, one team’s efforts at gene therapy for muscular dystrophy suggest the field may finally be on track to deliver on its initial promise. During the first few weeks of September in 1999, a 36-year-old air traffic controller from South…

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