The Continuation of a Journey
One Family’s Journey from Diagnosis to Gene Replacement Therapy in 14 Months: Part FOUR
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.
In Part ONE, we covered 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 discussed the science of NEDAMSS and highlighted 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.
In Part THREE we covered the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while here in Part FOUR, we will summarize 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.
_________
A clinical-grade gene replacement therapy being developed, manufactured, and approved for treatment of Elly Krueger in just 10 months is nothing less than amazing.
Much of the success can be attributed to Dan and Michelle, who were constantly managing and coordinating the efforts of the many groups involved in getting treatment for Elly in time to make a difference. The Kruegers also recognize the roles played by all of those groups and many individuals who were so committed to Elly’s cause.
They are extremely grateful that Dr. Zachary Grinspan was on call on Thanksgiving of 2023. His neurological expertise, knowledge of gene therapy, and support for the Kruegers’ efforts to develop a treatment were immensely important. The initial evidence of Dr. Kathrin Meyers’ team showing that gene replacement therapy could potentially help Elly, coupled with her encouragement and network of resources, were also invaluable. The incredible dedication of the team at the University of Missouri to complete proof of concept and safety studies in an extremely fast timeline, and the willingness of the folks at Andelyn Biosciences to take calls at any time of day, enabled filing of the investigational new drug (IND) application with the Food and Drug Administration to proceed smoothly.
That so many different people and organizations were necessary to turn the concept of a gene replacement therapy for NEDAMSS into a reality highlights the complexity that families facing such a devastating diagnosis must overcome.
The Kruegers’ experience also clearly shows that when there is a will, there is a way, to accomplish what many in the industry profess to be impossible. Indeed, it does not have to take 5+ years and $5 million or more to develop every gene therapy. Finding access to a great team, being able to tell your story while illustrating grit and willingness to fight for your son or daughter, and knowledge of safe and effective strategies for accelerating preclinical studies and process development demonstrate that treatments can be made available in much less time and at much lower cost.
In 2024, the Kruegers participated in a charity event called Fore One Purpose, which featured Elly as the Impact Champion. The event raised more than $50,000 towards helping children with ultra rare IRF2BPL diseases and will take place again in August of 2025.
As the Kruegers and their extended team of supporters continue to observe Elly and eagerly wait to hear more about how she is responding to the gene replacement therapy, they are also making plans to continue efforts in support of others in the rare- and ultra-rare disease community.
Michelle and Dan issued a letter to the IRF2BPL community on their website in early May, introducing themselves and Elly’s Team and explaining the work they have done and how it was funded. They hosted a webinar, with Dr. Meyer and Dr. Grinspan, for the families in the community to further explain their path to treatment and the next steps. The manufacturing process developed by Andelyn Biosciences provided more than just the one dose needed to treat Elly. The Kruegers plan to expand the IND and clinical trial to treat more patients, but require continued fundraising to achieve this.
Dan and Michelle do not intend to stop there. Hundreds of thousands of children suffer from rare and ultra-rare neurodegenerative/neurodevelopmental and seizure-based diseases for which there currently are no treatments. They want to apply the experience they have gained developing the NEDAMSS gene replacement therapy for Elly—and the approach used to dramatically shorten the timeline for translating research into treatments—to helping these children and their families.
Having faced the devastating news of their daughter’s diagnosis and fought through the despair it engendered, Michelle and Dan have committed to continuing the fight not just for Elly, but for other parents that are not able to take this kind of action. “For those who have been given much, much is expected. Our despair has been replaced with a deep sense of purpose”, they say. They want to know that when families in the future receive an ultra-rare neurodegenerative disease diagnosis, such as NEDAMSS, they won’t have to hear that there is no cure and accept that as the final answer. They can fight for a path to treatment for their children.
Learn more about the journey to accelerate the production of Elly’s gene replacement therapy in Part ONE, TWO or THREE.
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/.
One Family’s Journey from Diagnosis to Gene Replacement Therapy in 14 Months: Part FOUR
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.
In Part ONE, we covered 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 discussed the science of NEDAMSS and highlighted 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.
In Part THREE we covered the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while here in Part FOUR, we will summarize 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.
_________
A clinical-grade gene replacement therapy being developed, manufactured, and approved for treatment of Elly Krueger in just 10 months is nothing less than amazing.
Much of the success can be attributed to Dan and Michelle, who were constantly managing and coordinating the efforts of the many groups involved in getting treatment for Elly in time to make a difference. The Kruegers also recognize the roles played by all of those groups and many individuals who were so committed to Elly’s cause.
They are extremely grateful that Dr. Zachary Grinspan was on call on Thanksgiving of 2023. His neurological expertise, knowledge of gene therapy, and support for the Kruegers’ efforts to develop a treatment were immensely important. The initial evidence of Dr. Kathrin Meyers’ team showing that gene replacement therapy could potentially help Elly, coupled with her encouragement and network of resources, were also invaluable. The incredible dedication of the team at the University of Missouri to complete proof of concept and safety studies in an extremely fast timeline, and the willingness of the folks at Andelyn Biosciences to take calls at any time of day, enabled filing of the investigational new drug (IND) application with the Food and Drug Administration to proceed smoothly.
That so many different people and organizations were necessary to turn the concept of a gene replacement therapy for NEDAMSS into a reality highlights the complexity that families facing such a devastating diagnosis must overcome.
The Kruegers’ experience also clearly shows that when there is a will, there is a way, to accomplish what many in the industry profess to be impossible. Indeed, it does not have to take 5+ years and $5 million or more to develop every gene therapy. Finding access to a great team, being able to tell your story while illustrating grit and willingness to fight for your son or daughter, and knowledge of safe and effective strategies for accelerating preclinical studies and process development demonstrate that treatments can be made available in much less time and at much lower cost.
In 2024, the Kruegers participated in a charity event called Fore One Purpose, which featured Elly as the Impact Champion. The event raised more than $50,000 towards helping children with ultra rare IRF2BPL diseases and will take place again in August of 2025.
As the Kruegers and their extended team of supporters continue to observe Elly and eagerly wait to hear more about how she is responding to the gene replacement therapy, they are also making plans to continue efforts in support of others in the rare- and ultra-rare disease community.
Michelle and Dan issued a letter to the IRF2BPL community on their website in early May, introducing themselves and Elly’s Team and explaining the work they have done and how it was funded. They hosted a webinar, with Dr. Meyer and Dr. Grinspan, for the families in the community to further explain their path to treatment and the next steps. The manufacturing process developed by Andelyn Biosciences provided more than just the one dose needed to treat Elly. The Kruegers plan to expand the IND and clinical trial to treat more patients, but require continued fundraising to achieve this.
Dan and Michelle do not intend to stop there. Hundreds of thousands of children suffer from rare and ultra-rare neurodegenerative/neurodevelopmental and seizure-based diseases for which there currently are no treatments. They want to apply the experience they have gained developing the NEDAMSS gene replacement therapy for Elly—and the approach used to dramatically shorten the timeline for translating research into treatments—to helping these children and their families.
Having faced the devastating news of their daughter’s diagnosis and fought through the despair it engendered, Michelle and Dan have committed to continuing the fight not just for Elly, but for other parents that are not able to take this kind of action. “For those who have been given much, much is expected. Our despair has been replaced with a deep sense of purpose”, they say. They want to know that when families in the future receive an ultra-rare neurodegenerative disease diagnosis, such as NEDAMSS, they won’t have to hear that there is no cure and accept that as the final answer. They can fight for a path to treatment for their children.
Learn more about the journey to accelerate the production of Elly’s gene replacement therapy in Part ONE, TWO or THREE.
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/.
One Family’s Journey from Diagnosis to Gene Replacement Therapy in 14 Months: Part FOUR
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.
In Part ONE, we covered 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 discussed the science of NEDAMSS and highlighted 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.
In Part THREE we covered the work involved in accelerating the process development and manufacture of the novel gene replacement therapy by Andelyn Biosciences, while here in Part FOUR, we will summarize 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.
_________
A clinical-grade gene replacement therapy being developed, manufactured, and approved for treatment of Elly Krueger in just 10 months is nothing less than amazing.
Much of the success can be attributed to Dan and Michelle, who were constantly managing and coordinating the efforts of the many groups involved in getting treatment for Elly in time to make a difference. The Kruegers also recognize the roles played by all of those groups and many individuals who were so committed to Elly’s cause.
They are extremely grateful that Dr. Zachary Grinspan was on call on Thanksgiving of 2023. His neurological expertise, knowledge of gene therapy, and support for the Kruegers’ efforts to develop a treatment were immensely important. The initial evidence of Dr. Kathrin Meyers’ team showing that gene replacement therapy could potentially help Elly, coupled with her encouragement and network of resources, were also invaluable. The incredible dedication of the team at the University of Missouri to complete proof of concept and safety studies in an extremely fast timeline, and the willingness of the folks at Andelyn Biosciences to take calls at any time of day, enabled filing of the investigational new drug (IND) application with the Food and Drug Administration to proceed smoothly.
That so many different people and organizations were necessary to turn the concept of a gene replacement therapy for NEDAMSS into a reality highlights the complexity that families facing such a devastating diagnosis must overcome.
The Kruegers’ experience also clearly shows that when there is a will, there is a way, to accomplish what many in the industry profess to be impossible. Indeed, it does not have to take 5+ years and $5 million or more to develop every gene therapy. Finding access to a great team, being able to tell your story while illustrating grit and willingness to fight for your son or daughter, and knowledge of safe and effective strategies for accelerating preclinical studies and process development demonstrate that treatments can be made available in much less time and at much lower cost.
In 2024, the Kruegers participated in a charity event called Fore One Purpose, which featured Elly as the Impact Champion. The event raised more than $50,000 towards helping children with ultra rare IRF2BPL diseases and will take place again in August of 2025.
As the Kruegers and their extended team of supporters continue to observe Elly and eagerly wait to hear more about how she is responding to the gene replacement therapy, they are also making plans to continue efforts in support of others in the rare- and ultra-rare disease community.
Michelle and Dan issued a letter to the IRF2BPL community on their website in early May, introducing themselves and Elly’s Team and explaining the work they have done and how it was funded. They hosted a webinar, with Dr. Meyer and Dr. Grinspan, for the families in the community to further explain their path to treatment and the next steps. The manufacturing process developed by Andelyn Biosciences provided more than just the one dose needed to treat Elly. The Kruegers plan to expand the IND and clinical trial to treat more patients, but require continued fundraising to achieve this.
Dan and Michelle do not intend to stop there. Hundreds of thousands of children suffer from rare and ultra-rare neurodegenerative/neurodevelopmental and seizure-based diseases for which there currently are no treatments. They want to apply the experience they have gained developing the NEDAMSS gene replacement therapy for Elly—and the approach used to dramatically shorten the timeline for translating research into treatments—to helping these children and their families.
Having faced the devastating news of their daughter’s diagnosis and fought through the despair it engendered, Michelle and Dan have committed to continuing the fight not just for Elly, but for other parents that are not able to take this kind of action. “For those who have been given much, much is expected. Our despair has been replaced with a deep sense of purpose”, they say. They want to know that when families in the future receive an ultra-rare neurodegenerative disease diagnosis, such as NEDAMSS, they won’t have to hear that there is no cure and accept that as the final answer. They can fight for a path to treatment for their children.
Learn more about the journey to accelerate the production of Elly’s gene replacement therapy in Part ONE, TWO or THREE.
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/.