Poster Session
Directory
- A Single Center, Retrospective Chart Review Evaluating the Safety and Efficacy of Eteplirsen (EXONDYS 51) in Patients with Duchenne Muscular Dystrophy Post Heart Transplantation
- Baseline Characteristics of Patients Enrolled in PolarisDMD, a Phase 3 Trial of Edasalonexent for Duchenne Muscular Dystrophy
- Deflazacort and Prednisone Treatment for Duchenne Muscular Dystrophy (DMD): Real-world Outcomes at Cincinnati Children’s Hospital Medical Center (CCHMC)
- Demographic and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry
- DS-5141b, an ENA® antisense oligonucleotide, exhibits DMD exon 45 skipping activity in heart and diaphragm as well as skeletal muscle in mice
- Edasalonexent Treatment in Young Boys with Duchenne Muscular Dystrophy Is Associated with Age Normative Growth and Normal Adrenal Function
- Effect of Givinostat, an HDAC inhibitor, on disease milestones in Duchenne Muscular Dystrophy boys
- Evaluation of a Creatine Kinase-MM Assay for Use in Newborn Screening for Duchenne Muscular Dystrophy
- Experience with Edasalonexent Demonstrates Ability of 4 to 7 Year old Boys with Duchenne Muscular Dystrophy to Take Softgel Capsules in Clinical Trials
- Highly Efficient Base Correction of Adult Dystrophic Mice Using iABE-NG
- Home-Based Versus In-Clinic Functional Assessments: Preferences of Caregivers and Patients with Duchenne
- Living with Duchenne Muscular Dystrophy: Medical, Psychosocial and Financial Burden
- Meta-analyses of Deflazacort in PatientsWith Nonsense Mutation Duchenne Muscular Dystrophy
- Preventing Duchenne Muscular Dystrophy Cardiomyopathy Through Antagonism of the Thromboxane Prostanoid Receptor: An FDA Funded Phase 2 Clinical Trial
- Pulmonary function in non-ambulatory patients with nmDMD from the STRIDE ataluren Registry and CINRG Duchenne Natural History Study: a matched cohort analysis
- Restoration of Arm Mobility with Power-Assist Exoskeletons for Young Men with Duchenne Muscular Dystrophy
- Safety and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping
- The Duchenne Regulatory Science Consortium: Solutions to Bottlenecks that Slow Drug Development
- Understanding the Holistic Rare Disease Patient Experience Through a Community Advisor Program
1. A Single Center, Retrospective Chart Review Evaluating the Safety and Efficacy of Eteplirsen (EXONDYS 51) in Patients with Duchenne Muscular Dystrophy Post Heart Transplantation
Contact: ssalabarria@ufl.edu
Community Statement:
We believe this poster is relevant to the Duchenne community for two reasons. Firstly, our analysis suggests eteplirsen can provide the same clinical benefit to patients who have undergone heart transplantation as it does to all non-transplanted patients. Secondly, with the variability in the Duchenne population and the increase of available treatment options, patients with a Duchenne diagnosis are starting to be considered as potential heart transplant candidates. Our data can be used to support the potential for heart transplants in the young adult Duchenne population.
View Poster2. Baseline Characteristics of Patients Enrolled in PolarisDMD, a Phase 3 Trial of Edasalonexent for Duchenne Muscular Dystrophy
Contact: jdonovan@catabasis.com
Community Statement:
Edasalonexent is an oral NF-kB inhibitor in development to treat Duchenne muscular dystrophy, regardless of underlying mutation. The Phase 2 MoveDMD trial and open-label extension showed slowing of disease progression on MRI and functional measures compared with an off-treatment control period, and supported design of a pivotal Phase 3 trial, PolarisDMD. Both studies looked at the effect of edasalonexent on the North Star Ambulatory Assessment (NSAA), which was designed to assess boys with Duchenne and measure everyday activities. We compared characteristics of boys enrolled in both trials. We also examined whether the NSAA was reproducible when measured on different days before boys started on study drug. Boys enrolled in the PolarisDMD Phase 3 trial are similar to patients enrolled in the Phase 2 MoveDMD trial. NSAA is a consistent and reproducible measure of function in young boys with Duchenne, characteristics that are important for validity of clinical trial outcomes.
View Poster3. Deflazacort and Prednisone Treatment for Duchenne Muscular Dystrophy (DMD): Real-world Outcomes at Cincinnati Children’s Hospital Medical Center (CCHMC)
Contact: Jessica.Marden@analysisgroup.com
Community Statement:
This presentation provides real-world evidence of outcomes for boys with Duchenne muscular dystrophy (DMD) treated at Cincinnati Children’s Hospital Medical Center with either deflazacort or prednisone. Its results suggest that patients receiving deflazacort 1) had lower risk of losing the ability to walk, 2) preserved the ability to walk for a longer period than those patients receiving prednisone, and 3) had lower risk of scoliosis. Additionally, it shows that patients taking deflazacort had better physical and lung function, were shorter, had lower bodyweight, and had greater % lean body mass. This presentation adds to the evidence associating real-world deflazacort use with improved outcomes for patients with DMD.
View Poster4. Demographic and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry
Contact: ptrifillis@ptcbio.com
Community Statement:
STRIDE (Strategic Targeting of Registries and International Database of Excellence) is an ongoing, multi-center registry, which provides data on the safety and clinical efficacy of ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). As of Jan 30, 2019, the analysis from the STRIDE patient registry includes clinical information on 220 DMD patients from 11 countries, and insights on the potential management of DMD by providing the mean age at diagnosis of nmDMD, onset of symptoms, and treatment initiation.
View Poster5. DS-5141b, an ENA® antisense oligonucleotide, exhibits DMD exon 45 skipping activity in heart and diaphragm as well as skeletal muscle in mice
Contact: nagase.hiroyuki.z8@daiichisankyo.co.jp
Community Statement:
Daiichi Sankyo is developing a subcutaneous novel ASOs (antisense oligonucleotides, DS-5141b) for patients with DMD amenable to exon 45 skipping. DS-5141b is an antisense oligonucleotide consisting of 2′-O, 4′-C-ethylene-bridged nucleic acids (ENA®) and 2′-O-methyl RNA which induces dystrophin mRNA exon 45 skipping. In this poster presentation, we will introduce the preclinical results that support DS-5141b having potential to improve not only motor function but also cardiac function in patients with DMD.
View Poster6. Edasalonexent Treatment in Young Boys with Duchenne Muscular Dystrophy Is Associated with Age Normative Growth and Normal Adrenal Function
Contact: finanger@ohsu.edu
Community Statement:
Edasalonexent, an oral NF-κB inhibitor, is being investigated as a potential foundational therapy for people affected by Duchenne regardless of mutation. Edasalonexent does not impact the glucocorticoid receptor. In the MoveDMD Phase 2 randomized, placebo-controlled trial with open-label-extension enrolling 31 steroid-naïve 4-7 year old boys (<8th birthday) with Duchenne, edasalonexent was studied for up to 150 weeks of treatment. Muscle function and MRI assessments of muscle integrity showed slowing of disease progression compared to an off-treatment control period. Treatment with edasalonexent was well-tolerated and associated with age-appropriate growth patterns without negative impact on bone health or adrenal function. Edasalonexent is a potential foundational therapy for all patients affected by Duchenne, and is being evaluated in young boys in the Phase 3 PolarisDMD trial to determine whether it can slow disease progression and have positive effects on muscle and cardiac function as well as bone health.
View Poster7. Effect of Givinostat, an HDAC inhibitor, on disease milestones in Duchenne Muscular Dystrophy boys
Contact: p.bettica@Italfarmaco.com; s.cazzaniga@italfarmaco.com
Community Statement:
To increase your knowledge about investigational treatments for Duchenne and better understand the use of an HDAC inhibitor in DMD which may delay the disease progression.
View Poster8. Experience with Edasalonexent Demonstrates Ability of 4 to 7 Year old Boys with Duchenne Muscular Dystrophy to Take Softgel Capsules in Clinical Trials
Contact: mmancini@catabasis.com
Community Statement:
Medications given by mouth offer convenience for people affected by Duchenne, but there is limited information on whether young boys with Duchenne can swallow capsules/tablets. Edasalonexent, an oral NF-κB inhibitor in development for Duchenne, is given as a capsule in trials, and the ability to swallow capsules among participants was assessed at trial entry. In both Phase 2 and 3, 97% of boys who were screened for enrollment were able to swallow capsules. Compliance with taking study drug was high (~98% of capsules planned to be taken) with no discontinuations due to swallowing capsules. There were no differences observed regarding the ability to swallow the larger capsule based on geography or subject age. In summary, edasalonexent capsules were well-accepted in boys with Duchenne. Familiarity of clinical trial personnel and their confidence in boys’ ability to swallow capsules were important in successful capsule swallowing in boys as young as 4 years.
View Poster9. Evaluation of a Creatine Kinase-MM Assay for Use in Newborn Screening for Duchenne Muscular Dystrophy
Contact: norma.tavakoli@health.ny.gov
Community Statement:
Newborn screening (NBS) for Duchenne Muscular Dystrophy is currently not performed in the US. With the availability of treatment options and the expansion of the Duchenne therapeutic pipeline, timely diagnosis through newborn screening has become more important. A collaboration between PPMD, the NYS NBS program, participating hospitals in NY, ACMG, NBSTRN and industry funders was established with the goal of implementing a consented pilot study in NY to perform newborn screening for Duchenne. The data from the pilot study will be used to nominate Duchenne for evidence review and recommendation to the recommended uniform screening panel. In our poster we describe one of the initial goals of the pilot study which was the evaluation and validation of a high throughput immunoassay screen to detect newborns with Duchenne.
View Poster10. Highly Efficient Base Correction of Adult Dystrophic Mice Using iABE-NG
Contact: Chen.Zhang@osumc.edu
Community Statement:
We used iABE-NG to correct point mutations in DMD mice. Especially in the heart tissue, the result shows highly editing efficiency, nearly 90%. This study highlights the great promise of iABE-NG for permanent base correction of DMD.
View Poster11. Home-Based Versus In-Clinic Functional Assessments: Preferences of Caregivers and Patients with Duchenne
Contact: mariellec@casimirtrials.com
Community Statement:
A novel home-based video assessment has been developed to assess changes in movement patterns in daily tasks that have an impact on patient independence, such as walking. This outcome measure is designed to detect patient-specific changes over a shorter term than existing outcome measures, and it can be conducted at home to reduce the burden on families that need to travel long distances to visit a clinic. This poster describes the preferences of caregivers and patients around completing clinical trial outcome measures at home or in the clinic.
View Poster12. LIVING WITH DUCHENNE MUSCULAR DYSTROPHY: MEDICAL, PSYCHOSOCIAL AND FINANCIAL BURDEN
Contact: ceskova@parentproject.cz
Community Statement:
The main message of our poster is to emphasize different aspects of living with Duchenne muscular dystrophy. Our study aimed at the availability of health care as well as quality of life and social and financial burden of this diagnosis.
Our survey mapped approximately 25% of Czech DMD population, but even though the data was collected in a small European country, we believe it shows various aspects of the disease that patients and their family have to deal with. Very interesting were results showing the pronounced impact on caregivers’ daily activities and the impairment of ability to work. To our knowledge, this is one of a few DMD patient and caregiver studies of this kind conducted in the world.
13. Meta-analyses of Deflazacort in PatientsWith Nonsense Mutation Duchenne Muscular Dystrophy
Contact: ptrifillis@ptcbio.com
Community Statement:
Corticosteroids are beneficial in patients with Duchenne muscular dystrophy (DMD), and are considered a standard of care. This analysis compared the clinical efficacy of two corticosteroids, deflazacort and prednisone/prednisolone, in patients with nmDMD aged ≥ 7 years from the placebo arm of two 48 week clinical trials of ataluren in which subjects who received a glucocorticoid. Sixty-four subjects received deflazacort and 82 received prednisone/prednisolone. The clinical efficacy of the two drugs was measured by the changes in 6 minute walk distance and timed function tests. The results showed patients treated with deflazacort exihibited 6MWD that was 34 meters greater than for patients on the prednisone/prednisolone regimen. The common side effects of the two drugs included, headache, vomiting, fall, and diarrhea.
Deflazacort appears to be more effective than prednisone/prednisolone in delaying progression of DMD.
14. Preventing Duchenne Muscular Dystrophy Cardiomyopathy Through Antagonism of the Thromboxane Prostanoid Receptor: An FDA Funded Phase 2 Clinical Trial
Contact: imaciasperez@cumberlandpharma.com
Community Statement:
Heart muscle disease is now a leading cause of death in patients with Duchenne muscular dystrophy (DMD). The central objective of this clinical trial is to test the oral, targeted drug product, ifetroban, for safety and efficacy in the treatment of DMD heart muscle disease. Ifetroban has been studied in 27 clinical studies and dosed in over 1,300 non-DMD patients. Our poster will illustrate the background and encouraging results of ifetroban using several animal models of DMD heart muscle disease. The FIGHT DMD phase 2 clinical trial was awarded the first FDA Orphan Product Clinical Trial award for DMD and will be presented. Successful clinical outcomes from this study will support the development and approval of ifetroban for treating DMD heart muscle disease. Enrollment has begun for patients 7 years of age and older, with stable heart function, on/off steroids and ambulatory/non-ambulatory.
View Poster15. Pulmonary function in non-ambulatory patients with nmDMD from the STRIDE ataluren Registry and CINRG Duchenne Natural History Study: a matched cohort analysis
Contact: ptrifillis@ptcbio.com
Community Statement:
STRIDE Registry (Strategic Targeting of Registries and International Database of Excellence) is an ongoing, multi-center registry, which provides data on the safety and clinical efficacy of the new drug, ataluren, in patients with Duchenne muscular dystrophy (DMD).
The purpose of this analysis was to determine whether treatment of patients with ataluren in addition to standard care (SoC), which can include corticosteroids or palliative care, would result in a lesser decline in lung function as compared to DMD patients receiving SoC alone.
We observed delay in loss of ambulation in patients receiving ataluren and SoC as compared to those receiving SoC (12.4 year vs. 11.1 year). In addition, the decline in lung function was delayed by almost 3 years (18.7 years vs 15.6 years) in patients receiving ataluren and SoC. Our results suggest that ataluren in combination with SoC slows loss of ambulation and progression of decline in lung function in DMD patients.
16. Restoration of Arm Mobility with Power-Assist Exoskeletons for Young Men with Duchenne Muscular Dystrophy
Contact: mgrimm@msu.edu; bmathie@talemtech.com
Community Statement:
Reduced upper extremity strength, and the resulting loss of independence, are currently an inevitable consequence of the progression of DMD. An exoskeleton system has been designed through collaboration between Talem Technologies and Really Useful Robots. Rather than either a purely passive exoskeleton (that can support the arms against the force of gravity) or a robotic system (that applies force to the arms to actively move them), this system employs an innovative control system that magnifies the forces produced by the user’s own arms while remaining completely under the control of the user. The research project, conducted through a collaboration between Michigan State University and Wayne State University, demonstrates that the prototype system more than doubles the vertical range of motion of the user compared to a purely passive exoskeleton. It also magnifies the user-supplied muscular force by between 9 and 20 times. This assessment has resulted in great excitement about the future possibilities for this power-assisted exoskeleton system.
View Poster17. Safety and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping
Contact: n.park@nspharma.com
Community Statement:
NS Pharma, Inc. has an investigational treatment called viltolarsen, an exon 53 skipping therapy for amenable patients with Duchenne muscular dystrophy (also known as DMD).
NS Pharma’s poster will present the efficacy and safety results for viltolarsen from a North American phase 2, dose-finding study. This poster will include data on how much dystrophin, a key protein for muscle health, was produced following treatment with viltolarsen. In addition, results from timed motor function tests will be presented for those who received viltolarsen treatment compared to a DMD natural history study group. Safety data will also be presented.
Viltolarsen is being reviewed under the U.S. Food and Drug Administration (FDA) Accelerated Approval pathway and a decision from the FDA is anticipated in the 3rd quarter of 2020.
2020Poster Clemens Viltolarsen
View Poster18. The Duchenne Regulatory Science Consortium: Solutions to Bottlenecks that Slow Drug Development
Contact: jlarkindale@c-path.org
Community Statement:
Many therapies are now in clinical trials for Duchenne muscular dystrophy, but the process of drug development is long, and there is significant burden on patients who take part in trials. Unfortunately, many Duchenne trials have not resulted in clear results. The Duchenne Regulatory Science Consortium was set up to build tools to help optimize the clinical trial process, so that we could determine whether a drug works or not as efficiently as possible. D-RSC has built mathematical models that describe changes in 6 endpoints, and how to optimally design trials based on those endpoints to get answers as quickly as possible. The consortium is now seeking endorsement from regulatory agencies (FDA, EMA) for those tools, which will build confidence in using them to design trials. D-RSC is also working on several other tools such as biomarkers, clinical trial designs and additional models that will also optimize the Duchenne drug development process.
View Poster19. Understanding the Holistic Rare Disease Patient Experience Through a Community Advisor Program
Contact: jsmith@wavelifesci.com
Community Statement:
The needs of families affected by illnesses such as Duchenne are often complex and underserved, so biopharmaceutical companies must provide care that extends beyond treating the clinical symptoms of the disease. Therefore, meaningful engagement between biopharmaceutical companies and families is critical to driving an understanding of the challenges and unmet needs families experience. Here we describe learnings from a community advisor program designed to engage parents of individuals with Duchenne in a manner that enabled them to make meaningful contributions to the drug development process and the larger DMD community. Our hope is that the learnings we describe, as well as the community advisor engagement model, can inform the development of important programs, services, and initiatives that can support Duchenne families.
View Poster
