Realization of a Treatment through Grit, Commitment, Access, Resources, and Tremendous Collaborations
The Orphan Drug Act defines rare diseases as those that affect less than 200,000 people in the United States. The European Union definition is slightly different, with diseases that affect no more than 1 in 2,000 people considered rare. Those numbers are difficult enough to comprehend, but there are also ultra-rare diseases that affect just 100 to 200 people—or fewer—worldwide. Unfortunately, many young children are experiencing rapid disease progression and limited time and opportunity to receive treatment.
The development of a new drug typically takes many years and billions of dollars. How, then, can parents receiving devastating diagnoses for their children have any chance of finding treatment in time? This blog series outlines the story of one family’s journey from diagnosis to administration of a novel gene replacement therapy 14 months later, and how they were supported by clinicians, researchers, hospitals, universities, and manufacturing organizations to make the seemingly impossible happen for their daughter.
In this series, you can read about one family who refused to take this diagnosis as the end. They managed to bring together the resources and people needed to get an investigational gene replacement therapy manufactured and approved by the Food and Drug Administration (FDA) so that their daughter, Elly Krueger, could be dosed on April 3, 2025, just 14 months from her diagnosis.
Here in Part ONE, we cover the journey of Michelle and Dan Krueger and their daughter Elly, who was diagnosed with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS), a recently identified (2018) ultra-rare, progressive, neurodegenerative disease that affects roughly 150 children in the entire world.
In Part TWO we discuss the science of NEDAMSS and highlight the efforts of Dr. Kathrin Meyer, in collaboration with Elly’s Team and a team of researchers, who collectively developed the gene replacement therapy and conducted the preclinical studies necessary for achieving a N=1 drug approval from the FDA. Part THREE covers the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while Part FOUR summarizes the important roles played by the different parties and looks at the next steps for Elly, her family, the other children, and the Elly’s Team foundation.
Part ONE:
The Krueger family’s journey of gene replacement therapy development began the day before Thanksgiving in 2023. They took 5-month-old Elly, their third child, to the pediatrician to investigate rapid onset of developmental delays, which included strange eye movements almost like her eyes were moving in her head. The evening was spent in the emergency room of Weill Cornell hospital with Elly undergoing every test imaginable, including a CAT scan and magnetic resonance imaging of her brain, an EKG, and visits from an ophthalmologist and neurologist. Everything appeared normal. After leaving a message for Dr. Zachary Grinspan, the lead on-call pediatric neurologist they went home around 3 AM expecting to return after the holiday weekend.
It was the first miracle for the Kruegers, according to Michelle, that Dr. Grinspan, a leading neurologist, was on call that day. He took time Thanksgiving afternoon to not only reach out, but after observing Elly’s eye movements via a video call, meet the family at the hospital for additional testing. He quickly determined she was experiencing focal seizures and infantile spasms and immediately began treating Elly with anti-seizure medications.
While the focal seizures quickly dissipated, the infantile spasms did not. They can randomly develop, resulting from structural issues such as brain tumors, or be due to a genetic disease. After several lines of treatment with no progress, it was clear Elly was suffering from something serious. Further imaging of her brain revealed no structural issues, and the diagnosis was discovered after full genome sequencing: Elly has a genetic mutation in the IRF2BPL gene, which causes Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS).
Dr. Grinspan immediately spent time researching the mutation and informed the Krueger’s an hour later that the mutation was ultra-rare, likely neurodegenerative, and there were no treatments or cure. The Kruegers’ immediate response was, instead of buckling under the devastating news, to fight to develop one.
They founded Elly’s Team, a faith-based foundation with a singular focus on translating medical research into treatment in record time and sought help from numerous quarters. The mother of a son with a different rare disease (who Michelle connected to through a friend of a friend) spent three hours teaching Michelle everything she knew about basic genetics, gene editing, gene replacement therapy, and drug repurposing. Networking also led Michelle and Dan to Rod and Marti at the RTW Foundation, which funds rare disease research, medical innovation, and local community collaborations. A connection that would be invaluable as the Krueger’s continued their journey, with the addition of Joe Katakowski (PhD, Director of Research) to their board, another miracle along the way.
The Kruegers also discovered Dr. Kathrin Meyer, who had miraculously already been working with funding for diseases in the IRF2BPL community. In her role as Chief Scientific Officer of Alcyone Therapeutics, and formally at Nationwide Childrens Hospital, Dr. Meyer was investigating possible treatment avenues for NEDAMSS as part of her research in mutations of the IRF2BPL genes. She, Dr. Grinspan, and experts at the RTW Foundation helped Michelle and Dan to ultimately prioritize three treatment options to pursue: drug repurposing, antisense oligonucleotides (ASOs) to target mRNA or gene addition therapy.
They first reached out to numerous biotech labs and drug developers regarding development of an ASO drug. The IRF2BPL gene presents unique challenges, including that it is a single-exon gene containing no introns and has many repeated sequences (GC-rich in particular), both of which make ASO development difficult. La Jolla Labs, experts in the design of RNA therapeutics, took on the project and after completing an in-depth project, unfortunately confirmed that this approach was not feasible.
In parallel, Michelle and Dan engaged with Unravel Biosciences, which used Elly’s RNA data to identify potential existing drugs that might alter her disease progression. From the list of generated candidates, five lead drugs were selected and are currently being evaluated in a disease-induced tadpole model.
The need became increasingly urgent as the Krueger’s learned over the first few months following Elly’s diagnosis that she fell into the group of children with a severe form of the disease, with progressive debilitation often leading to premature death. The severity of Elly’s disease was unfortunately further confirmed through a repeat MRI in June 2024 indicating brain development challenges and zero percentile head size. Despite many people telling Dan and Michelle that developing a gene replacement therapy would take at least three to five years and $5 to 10 million, they forged ahead with support from Dr. Meyer and Dr. Grinspan, who understood the importance of speed and the need to find a way to go years faster and cheaper without sacrificing safety or efficacy.
The solution was to start developing a clinical manufacturing process at the same time that preclinical (proof-of-concept and safety) studies were being performed. While such an approach was financially risky, it would allow production of clinical material in the least amount of time possible and make it possible to administer the gene replacement therapy to Elly as soon as FDA approval was received.
The preclinical work, including proof of concept and safety studies, was performed at the University of Missouri under the auspices of Dr. J Andrea Sierra Delgado, a colleague of Dr. Meyer’s when they worked together at Nationwide Children’s Hospital and Dr. Smita Saxena, a world-renown neuroscientist and cellular assay specialist. First, the gene replacement therapy was shown to recover Elly’s patient-derived cells. Next, with no mouse model for the disease, Dr. Sierra Delgado and Dr. Saxena confirmed these results in disease-induced wild-type mice, while the team from Unravel confirmed efficacy in mutated tadpoles simultaneously. Safety studies to support an investigational new drug (IND) application were performed in healthy mice and pigs at the University of Missouri.
The gene replacement therapy designed by Dr. Meyer and her team in collaboration with Elly’s Team is based on an adeno-associated viral (AAV) vector. Production of the plasmid DNA needed to manufacture the vector started just four months following Elly’s diagnosis (in June 2024). The material was provided to Andelyn Biosciences in September, who leveraged their AAV Curator® platform production process and extensive know-how in AAV manufacturing to develop a process and produce clinical material by January 2, 2025.
The speed at which all this work was accomplished reflects the commitment of all involved to get treatment for Elly as quickly as possible. The standard market pace of anywhere from 2 to 10 years for funding, development and commercialization was too much of a risk.
Because of this commitment to beat the clock, Elly was dosed on April 3, 2025, a mere 14 months after her diagnosis and 10 months after their pursuit of gene replacement therapy began. A timeline, according to Michelle, “that was only accomplished due to relentless effort, a lot of prayer, divine intervention and a series of miracles”.
The success of this multifaceted team shows what can be accomplished with grit, determination, and the will to succeed. Michelle also acknowledges that developing this gene replacement therapy treatment for Elly in such a short time was made possible by Michelle and Dan’s network. Those factors enabled them to reach the right people and raise funds to supplement the money and continue to invest into the foundation personally. The Kruegers’ goal is that all patients suffering from this disease will have access to treatment in the future.
The procedure went smoothly, and so far, Elly is doing well. Dan, Michelle, Dr. Grinspan, Dr. Meyer, and everyone at the RTW Foundation, Andelyn Biosciences, and the University of Missouri are anxiously waiting to see how she responds. All are hopeful.
Learn more about the science of NEDAMSS and the gene replacement therapy developed to treat Elly in Part Two.
Information about the gene therapy development and manufacturing capabilities at Andelyn Biosciences can be found here: https://www.andelynbio.com/. And to stay up to date on the work being accomplished by Elly’s Team, visit https://ellysteam.org/.
The Orphan Drug Act defines rare diseases as those that affect less than 200,000 people in the United States. The European Union definition is slightly different, with diseases that affect no more than 1 in 2,000 people considered rare. Those numbers are difficult enough to comprehend, but there are also ultra-rare diseases that affect just 100 to 200 people—or fewer—worldwide. Unfortunately, many young children are experiencing rapid disease progression and limited time and opportunity to receive treatment.
The development of a new drug typically takes many years and billions of dollars. How, then, can parents receiving devastating diagnoses for their children have any chance of finding treatment in time? This blog series outlines the story of one family’s journey from diagnosis to administration of a novel gene replacement therapy 14 months later, and how they were supported by clinicians, researchers, hospitals, universities, and manufacturing organizations to make the seemingly impossible happen for their daughter.
In this series, you can read about one family who refused to take this diagnosis as the end. They managed to bring together the resources and people needed to get an investigational gene replacement therapy manufactured and approved by the Food and Drug Administration (FDA) so that their daughter, Elly Krueger, could be dosed on April 3, 2025, just 14 months from her diagnosis.
Here in Part ONE, we cover the journey of Michelle and Dan Krueger and their daughter Elly, who was diagnosed with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS), a recently identified (2018) ultra-rare, progressive, neurodegenerative disease that affects roughly 150 children in the entire world.
In Part TWO we discuss the science of NEDAMSS and highlight the efforts of Dr. Kathrin Meyer, in collaboration with Elly’s Team and a team of researchers, who collectively developed the gene replacement therapy and conducted the preclinical studies necessary for achieving a N=1 drug approval from the FDA. Part THREE covers the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while Part FOUR summarizes the important roles played by the different parties and looks at the next steps for Elly, her family, the other children, and the Elly’s Team foundation.
Part ONE:
The Krueger family’s journey of gene replacement therapy development began the day before Thanksgiving in 2023. They took 5-month-old Elly, their third child, to the pediatrician to investigate rapid onset of developmental delays, which included strange eye movements almost like her eyes were moving in her head. The evening was spent in the emergency room of Weill Cornell hospital with Elly undergoing every test imaginable, including a CAT scan and magnetic resonance imaging of her brain, an EKG, and visits from an ophthalmologist and neurologist. Everything appeared normal. After leaving a message for Dr. Zachary Grinspan, the lead on-call pediatric neurologist they went home around 3 AM expecting to return after the holiday weekend.
It was the first miracle for the Kruegers, according to Michelle, that Dr. Grinspan, a leading neurologist, was on call that day. He took time Thanksgiving afternoon to not only reach out, but after observing Elly’s eye movements via a video call, meet the family at the hospital for additional testing. He quickly determined she was experiencing focal seizures and infantile spasms and immediately began treating Elly with anti-seizure medications.
While the focal seizures quickly dissipated, the infantile spasms did not. They can randomly develop, resulting from structural issues such as brain tumors, or be due to a genetic disease. After several lines of treatment with no progress, it was clear Elly was suffering from something serious. Further imaging of her brain revealed no structural issues, and the diagnosis was discovered after full genome sequencing: Elly has a genetic mutation in the IRF2BPL gene, which causes Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS).
Dr. Grinspan immediately spent time researching the mutation and informed the Krueger’s an hour later that the mutation was ultra-rare, likely neurodegenerative, and there were no treatments or cure. The Kruegers’ immediate response was, instead of buckling under the devastating news, to fight to develop one.
They founded Elly’s Team, a faith-based foundation with a singular focus on translating medical research into treatment in record time and sought help from numerous quarters. The mother of a son with a different rare disease (who Michelle connected to through a friend of a friend) spent three hours teaching Michelle everything she knew about basic genetics, gene editing, gene replacement therapy, and drug repurposing. Networking also led Michelle and Dan to Rod and Marti at the RTW Foundation, which funds rare disease research, medical innovation, and local community collaborations. A connection that would be invaluable as the Krueger’s continued their journey, with the addition of Joe Katakowski (PhD, Director of Research) to their board, another miracle along the way.
The Kruegers also discovered Dr. Kathrin Meyer, who had miraculously already been working with funding for diseases in the IRF2BPL community. In her role as Chief Scientific Officer of Alcyone Therapeutics, and formally at Nationwide Childrens Hospital, Dr. Meyer was investigating possible treatment avenues for NEDAMSS as part of her research in mutations of the IRF2BPL genes. She, Dr. Grinspan, and experts at the RTW Foundation helped Michelle and Dan to ultimately prioritize three treatment options to pursue: drug repurposing, antisense oligonucleotides (ASOs) to target mRNA or gene addition therapy.
They first reached out to numerous biotech labs and drug developers regarding development of an ASO drug. The IRF2BPL gene presents unique challenges, including that it is a single-exon gene containing no introns and has many repeated sequences (GC-rich in particular), both of which make ASO development difficult. La Jolla Labs, experts in the design of RNA therapeutics, took on the project and after completing an in-depth project, unfortunately confirmed that this approach was not feasible.
In parallel, Michelle and Dan engaged with Unravel Biosciences, which used Elly’s RNA data to identify potential existing drugs that might alter her disease progression. From the list of generated candidates, five lead drugs were selected and are currently being evaluated in a disease-induced tadpole model.
The need became increasingly urgent as the Krueger’s learned over the first few months following Elly’s diagnosis that she fell into the group of children with a severe form of the disease, with progressive debilitation often leading to premature death. The severity of Elly’s disease was unfortunately further confirmed through a repeat MRI in June 2024 indicating brain development challenges and zero percentile head size. Despite many people telling Dan and Michelle that developing a gene replacement therapy would take at least three to five years and $5 to 10 million, they forged ahead with support from Dr. Meyer and Dr. Grinspan, who understood the importance of speed and the need to find a way to go years faster and cheaper without sacrificing safety or efficacy.
The solution was to start developing a clinical manufacturing process at the same time that preclinical (proof-of-concept and safety) studies were being performed. While such an approach was financially risky, it would allow production of clinical material in the least amount of time possible and make it possible to administer the gene replacement therapy to Elly as soon as FDA approval was received.
The preclinical work, including proof of concept and safety studies, was performed at the University of Missouri under the auspices of Dr. J Andrea Sierra Delgado, a colleague of Dr. Meyer’s when they worked together at Nationwide Children’s Hospital and Dr. Smita Saxena, a world-renown neuroscientist and cellular assay specialist. First, the gene replacement therapy was shown to recover Elly’s patient-derived cells. Next, with no mouse model for the disease, Dr. Sierra Delgado and Dr. Saxena confirmed these results in disease-induced wild-type mice, while the team from Unravel confirmed efficacy in mutated tadpoles simultaneously. Safety studies to support an investigational new drug (IND) application were performed in healthy mice and pigs at the University of Missouri.
The gene replacement therapy designed by Dr. Meyer and her team in collaboration with Elly’s Team is based on an adeno-associated viral (AAV) vector. Production of the plasmid DNA needed to manufacture the vector started just four months following Elly’s diagnosis (in June 2024). The material was provided to Andelyn Biosciences in September, who leveraged their AAV Curator® platform production process and extensive know-how in AAV manufacturing to develop a process and produce clinical material by January 2, 2025.
The speed at which all this work was accomplished reflects the commitment of all involved to get treatment for Elly as quickly as possible. The standard market pace of anywhere from 2 to 10 years for funding, development and commercialization was too much of a risk.
Because of this commitment to beat the clock, Elly was dosed on April 3, 2025, a mere 14 months after her diagnosis and 10 months after their pursuit of gene replacement therapy began. A timeline, according to Michelle, “that was only accomplished due to relentless effort, a lot of prayer, divine intervention and a series of miracles”.
The success of this multifaceted team shows what can be accomplished with grit, determination, and the will to succeed. Michelle also acknowledges that developing this gene replacement therapy treatment for Elly in such a short time was made possible by Michelle and Dan’s network. Those factors enabled them to reach the right people and raise funds to supplement the money and continue to invest into the foundation personally. The Kruegers’ goal is that all patients suffering from this disease will have access to treatment in the future.
The procedure went smoothly, and so far, Elly is doing well. Dan, Michelle, Dr. Grinspan, Dr. Meyer, and everyone at the RTW Foundation, Andelyn Biosciences, and the University of Missouri are anxiously waiting to see how she responds. All are hopeful.
Learn more about the science of NEDAMSS and the gene replacement therapy developed to treat Elly in Part Two.
Information about the gene therapy development and manufacturing capabilities at Andelyn Biosciences can be found here: https://www.andelynbio.com/. And to stay up to date on the work being accomplished by Elly’s Team, visit https://ellysteam.org/.
The Orphan Drug Act defines rare diseases as those that affect less than 200,000 people in the United States. The European Union definition is slightly different, with diseases that affect no more than 1 in 2,000 people considered rare. Those numbers are difficult enough to comprehend, but there are also ultra-rare diseases that affect just 100 to 200 people—or fewer—worldwide. Unfortunately, many young children are experiencing rapid disease progression and limited time and opportunity to receive treatment.
The development of a new drug typically takes many years and billions of dollars. How, then, can parents receiving devastating diagnoses for their children have any chance of finding treatment in time? This blog series outlines the story of one family’s journey from diagnosis to administration of a novel gene replacement therapy 14 months later, and how they were supported by clinicians, researchers, hospitals, universities, and manufacturing organizations to make the seemingly impossible happen for their daughter.
In this series, you can read about one family who refused to take this diagnosis as the end. They managed to bring together the resources and people needed to get an investigational gene replacement therapy manufactured and approved by the Food and Drug Administration (FDA) so that their daughter, Elly Krueger, could be dosed on April 3, 2025, just 14 months from her diagnosis.
Here in Part ONE, we cover the journey of Michelle and Dan Krueger and their daughter Elly, who was diagnosed with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS), a recently identified (2018) ultra-rare, progressive, neurodegenerative disease that affects roughly 150 children in the entire world.
In Part TWO we discuss the science of NEDAMSS and highlight the efforts of Dr. Kathrin Meyer, in collaboration with Elly’s Team and a team of researchers, who collectively developed the gene replacement therapy and conducted the preclinical studies necessary for achieving a N=1 drug approval from the FDA. Part THREE covers the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while Part FOUR summarizes the important roles played by the different parties and looks at the next steps for Elly, her family, the other children, and the Elly’s Team foundation.
Part ONE:
The Krueger family’s journey of gene replacement therapy development began the day before Thanksgiving in 2023. They took 5-month-old Elly, their third child, to the pediatrician to investigate rapid onset of developmental delays, which included strange eye movements almost like her eyes were moving in her head. The evening was spent in the emergency room of Weill Cornell hospital with Elly undergoing every test imaginable, including a CAT scan and magnetic resonance imaging of her brain, an EKG, and visits from an ophthalmologist and neurologist. Everything appeared normal. After leaving a message for Dr. Zachary Grinspan, the lead on-call pediatric neurologist they went home around 3 AM expecting to return after the holiday weekend.
It was the first miracle for the Kruegers, according to Michelle, that Dr. Grinspan, a leading neurologist, was on call that day. He took time Thanksgiving afternoon to not only reach out, but after observing Elly’s eye movements via a video call, meet the family at the hospital for additional testing. He quickly determined she was experiencing focal seizures and infantile spasms and immediately began treating Elly with anti-seizure medications.
While the focal seizures quickly dissipated, the infantile spasms did not. They can randomly develop, resulting from structural issues such as brain tumors, or be due to a genetic disease. After several lines of treatment with no progress, it was clear Elly was suffering from something serious. Further imaging of her brain revealed no structural issues, and the diagnosis was discovered after full genome sequencing: Elly has a genetic mutation in the IRF2BPL gene, which causes Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS).
Dr. Grinspan immediately spent time researching the mutation and informed the Krueger’s an hour later that the mutation was ultra-rare, likely neurodegenerative, and there were no treatments or cure. The Kruegers’ immediate response was, instead of buckling under the devastating news, to fight to develop one.
They founded Elly’s Team, a faith-based foundation with a singular focus on translating medical research into treatment in record time and sought help from numerous quarters. The mother of a son with a different rare disease (who Michelle connected to through a friend of a friend) spent three hours teaching Michelle everything she knew about basic genetics, gene editing, gene replacement therapy, and drug repurposing. Networking also led Michelle and Dan to Rod and Marti at the RTW Foundation, which funds rare disease research, medical innovation, and local community collaborations. A connection that would be invaluable as the Krueger’s continued their journey, with the addition of Joe Katakowski (PhD, Director of Research) to their board, another miracle along the way.
The Kruegers also discovered Dr. Kathrin Meyer, who had miraculously already been working with funding for diseases in the IRF2BPL community. In her role as Chief Scientific Officer of Alcyone Therapeutics, and formally at Nationwide Childrens Hospital, Dr. Meyer was investigating possible treatment avenues for NEDAMSS as part of her research in mutations of the IRF2BPL genes. She, Dr. Grinspan, and experts at the RTW Foundation helped Michelle and Dan to ultimately prioritize three treatment options to pursue: drug repurposing, antisense oligonucleotides (ASOs) to target mRNA or gene addition therapy.
They first reached out to numerous biotech labs and drug developers regarding development of an ASO drug. The IRF2BPL gene presents unique challenges, including that it is a single-exon gene containing no introns and has many repeated sequences (GC-rich in particular), both of which make ASO development difficult. La Jolla Labs, experts in the design of RNA therapeutics, took on the project and after completing an in-depth project, unfortunately confirmed that this approach was not feasible.
In parallel, Michelle and Dan engaged with Unravel Biosciences, which used Elly’s RNA data to identify potential existing drugs that might alter her disease progression. From the list of generated candidates, five lead drugs were selected and are currently being evaluated in a disease-induced tadpole model.
The need became increasingly urgent as the Krueger’s learned over the first few months following Elly’s diagnosis that she fell into the group of children with a severe form of the disease, with progressive debilitation often leading to premature death. The severity of Elly’s disease was unfortunately further confirmed through a repeat MRI in June 2024 indicating brain development challenges and zero percentile head size. Despite many people telling Dan and Michelle that developing a gene replacement therapy would take at least three to five years and $5 to 10 million, they forged ahead with support from Dr. Meyer and Dr. Grinspan, who understood the importance of speed and the need to find a way to go years faster and cheaper without sacrificing safety or efficacy.
The solution was to start developing a clinical manufacturing process at the same time that preclinical (proof-of-concept and safety) studies were being performed. While such an approach was financially risky, it would allow production of clinical material in the least amount of time possible and make it possible to administer the gene replacement therapy to Elly as soon as FDA approval was received.
The preclinical work, including proof of concept and safety studies, was performed at the University of Missouri under the auspices of Dr. J Andrea Sierra Delgado, a colleague of Dr. Meyer’s when they worked together at Nationwide Children’s Hospital and Dr. Smita Saxena, a world-renown neuroscientist and cellular assay specialist. First, the gene replacement therapy was shown to recover Elly’s patient-derived cells. Next, with no mouse model for the disease, Dr. Sierra Delgado and Dr. Saxena confirmed these results in disease-induced wild-type mice, while the team from Unravel confirmed efficacy in mutated tadpoles simultaneously. Safety studies to support an investigational new drug (IND) application were performed in healthy mice and pigs at the University of Missouri.
The gene replacement therapy designed by Dr. Meyer and her team in collaboration with Elly’s Team is based on an adeno-associated viral (AAV) vector. Production of the plasmid DNA needed to manufacture the vector started just four months following Elly’s diagnosis (in June 2024). The material was provided to Andelyn Biosciences in September, who leveraged their AAV Curator® platform production process and extensive know-how in AAV manufacturing to develop a process and produce clinical material by January 2, 2025.
The speed at which all this work was accomplished reflects the commitment of all involved to get treatment for Elly as quickly as possible. The standard market pace of anywhere from 2 to 10 years for funding, development and commercialization was too much of a risk.
Because of this commitment to beat the clock, Elly was dosed on April 3, 2025, a mere 14 months after her diagnosis and 10 months after their pursuit of gene replacement therapy began. A timeline, according to Michelle, “that was only accomplished due to relentless effort, a lot of prayer, divine intervention and a series of miracles”.
The success of this multifaceted team shows what can be accomplished with grit, determination, and the will to succeed. Michelle also acknowledges that developing this gene replacement therapy treatment for Elly in such a short time was made possible by Michelle and Dan’s network. Those factors enabled them to reach the right people and raise funds to supplement the money and continue to invest into the foundation personally. The Kruegers’ goal is that all patients suffering from this disease will have access to treatment in the future.
The procedure went smoothly, and so far, Elly is doing well. Dan, Michelle, Dr. Grinspan, Dr. Meyer, and everyone at the RTW Foundation, Andelyn Biosciences, and the University of Missouri are anxiously waiting to see how she responds. All are hopeful.
Learn more about the science of NEDAMSS and the gene replacement therapy developed to treat Elly in Part Two.
Information about the gene therapy development and manufacturing capabilities at Andelyn Biosciences can be found here: https://www.andelynbio.com/. And to stay up to date on the work being accomplished by Elly’s Team, visit https://ellysteam.org/.