Search Results - "Potter, Rachael A."

Dose-Escalation Study of Systemically Delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx Mouse Model of Duchenne Muscular Dystrophy by Potter, Rachael A, Griffin, Danielle A, Heller, Kristin N, Peterson, Ellyn L, Clark, Emma K, Mendell, Jerry R, Rodino-Klapac, Louise R

“…Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by mutations in the gene. More than 2,000 mutations of…”
Get more information

Clinical development on the frontier: gene therapy for duchenne muscular dystrophy by Asher, Damon R, Thapa, Khampaseuth, Dharia, Sachi D, Khan, Navid, Potter, Rachael A, Rodino-Klapac, Louise R, Mendell, Jerry R

“…: The development of adeno-associated virus (AAV) vectors as safe vehicles for delivery of therapeutic genes has been a major milestone in the advancement of…”
Get more information

Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy by Mendell, Jerry R, Shieh, Perry B, McDonald, Craig M, Sahenk, Zarife, Lehman, Kelly J, Lowes, Linda P, Reash, Natalie F, Iammarino, Megan A, Alfano, Lindsay N, Sabo, Brenna, Woods, Jeremy D, Skura, Christy L, Mao, Howard C, Staudt, Loretta A, Griffin, Danielle A, Lewis, Sarah, Wang, Shufang, Potter, Rachael A, Singh, Teji, Rodino-Klapac, Louise R

“…Delandistrogene moxeparvovec (SRP-9001) is an investigational gene transfer therapy designed for targeted expression of SRP-9001 dystrophin protein, a…”
Get full text

Use of plasmapheresis to lower anti-AAV antibodies in nonhuman primates with pre-existing immunity to AAVrh74 by Potter, Rachael A., Peterson, Ellyn L., Griffin, Danielle, Cooper Olson, Grace, Lewis, Sarah, Cochran, Kyle, Mendell, Jerry R., Rodino-Klapac, Louise R.

“…Patients with pre-existing immunity to adeno-associated virus (AAV) are currently unable to receive systemic gene transfer therapies. In this nonhuman primate…”
Get full text

Expression and function of four AAV-based constructs for dystrophin restoration in the mdx mouse model of Duchenne muscular dystrophy by Potter, Rachael A., Griffin, Danielle A., Heller, Kristin N., Mendell, Jerry R., Rodino-Klapac, Louise R.

“…ABSTRACT Robust expression of shortened, functional dystrophin provided impetus to develop adeno-associated virus (AAV)–based constructs for clinical…”
Get full text

Systemic γ-sarcoglycan AAV gene transfer results in dose-dependent correction of muscle deficits in the LGMD 2C/R5 mouse model by Seo, Young-Eun, Baine, Stephen H., Kempton, Amber N., Rogers, Oliver C., Lewis, Sarah, Adegboye, Kaitlin, Haile, Alex, Griffin, Danielle A., Peterson, Ellyn L., Pozsgai, Eric R., Potter, Rachael A., Rodino-Klapac, Louise R.

“…Limb-girdle muscular dystrophy (LGMD) type 2C/R5 results from mutations in the γ-sarcoglycan (SGCG) gene and is characterized by muscle weakness and…”
Get full text

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial by Mendell, Jerry R, Sahenk, Zarife, Lehman, Kelly, Nease, Carrie, Lowes, Linda P, Miller, Natalie F, Iammarino, Megan A, Alfano, Lindsay N, Nicholl, Amanda, Al-Zaidy, Samiah, Lewis, Sarah, Church, Kathleen, Shell, Richard, Cripe, Linda H, Potter, Rachael A, Griffin, Danielle A, Pozsgai, Eric, Dugar, Ashish, Hogan, Mark, Rodino-Klapac, Louise R

“…Micro-dystrophin gene transfer shows promise for treating patients with Duchenne muscular dystrophy (DMD) using recombinant adeno-associated virus serotype…”
Get more information

Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy by Griffin, Danielle A, Pozsgai, Eric R, Heller, Kristin N, Potter, Rachael A, Peterson, Ellyn L, Rodino-Klapac, Louise R

“…Limb-girdle muscular dystrophy type 2D/R3 (LGMD2D/R3) is a progressive muscular dystrophy that manifests with muscle weakness, respiratory abnormalities, and…”
Get more information

Long‐term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial by Mendell, Jerry R., Sahenk, Zarife, Lehman, Kelly J., Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Alfano, Lindsay N., Lewis, Sarah, Church, Kathleen, Shell, Richard, Potter, Rachael A., Griffin, Danielle A., Hogan, Mark, Wang, Shufang, Mason, Stefanie, Darton, Eddie, Rodino‐Klapac, Louise R.

“…Introduction/Aims Delandistrogene moxeparvovec is indicated in the United States for the treatment of ambulatory pediatric patients aged 4 through 5 years with…”
Get full text

Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1‐Year Interim Results from Study SRP‐9001‐103 (ENDEAVOR) by Zaidman, Craig M., Proud, Crystal M., McDonald, Craig M., Lehman, Kelly J., Goedeker, Natalie L., Mason, Stefanie, Murphy, Alexander P., Guridi, Maitea, Wang, Shufang, Reid, Carol, Darton, Eddie, Wandel, Christoph, Lewis, Sarah, Malhotra, Jyoti, Griffin, Danielle A., Potter, Rachael A., Rodino‐Klapac, Louise R., Mendell, Jerry R.

“…Objective Delandistrogene moxeparvovec is approved in the USA for the treatment of ambulatory patients (4–5 years) with Duchenne muscular dystrophy. ENDEAVOR…”
Get full text

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial by Mendell, Jerry R, Muntoni, Francesco, McDonald, Craig M, Mercuri, Eugenio M, Ciafaloni, Emma, Komaki, Hirofumi, Leon-Astudillo, Carmen, Nascimento, Andrés, Proud, Crystal, Schara-Schmidt, Ulrike, Veerapandiyan, Aravindhan, Zaidman, Craig M, Guridi, Maitea, Murphy, Alexander P, Reid, Carol, Wandel, Christoph, Asher, Damon R, Darton, Eddie, Mason, Stefanie, Potter, Rachael A, Singh, Teji, Zhang, Wenfei, Fontoura, Paulo, Elkins, Jacob S, Rodino-Klapac, Louise R

“…Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result in the absence of…”
Get full text

Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy by Potter, Rachael A, Griffin, Danielle A, Sondergaard, Patricia C, Johnson, Ryan W, Pozsgai, Eric R, Heller, Kristin N, Peterson, Ellyn L, Lehtimäki, Kimmo K, Windish, Hillarie P, Mittal, Plavi J, Albrecht, Douglas E, Mendell, Jerry R, Rodino-Klapac, Louise R

“…Dysferlinopathies comprise a family of disorders caused by mutations in the dysferlin (DYSF) gene, leading to a progressive dystrophy characterized by chronic…”
Get more information

Evaluation of the Lipid-binding Properties of Recombinant Dystrophin Spectrin-like Repeat Domains R1-3 by Cooper-Olson, Grace, Rodino-Klapac, Louise R, Potter, Rachael A

“…Recombinant micro-dystrophin genes are designed to treat Duchenne muscular dystrophy (DMD) by retaining dystrophin domains believed to play key functional…”
Get more information

P314: Long-term safety and sustained functional benefit in patients with DMD 4 years post-treatment with delandistrogene moxeparvovec: A phase 1/2a study by O’Rourke, Erin, Mendell, Jerry R., Sahenk, Zarife, Lehman, Kelly J., Lowes, Linda P., Reash, Natalie F., Iammarino, Megan, Alfano, Lindsay, Lewis, Sarah, Church, Kathleen, Shell, Richard, Potter, Rachael A., Griffin, Danielle, Hogan, Mark J., Wang, Shufang, Mason, Stefanie, Darton, Eddie, Rodino-Klapac, Louise

Get full text

FoxO1 inhibits skeletal muscle hypertrophy through mTOR-independent mechanisms by Potter, Rachael A, DeLong, Alissa D, Smith, Sierra M, Erb, Benjamin M, Renwand, Bryon, Kamei, Yasutomi, Ogawa, Yoshihiro, McLoughlin, Thomas J

“…The canonical Akt/mTOR signaling pathway plays a strong role in promoting skeletal muscle hypertrophy through regulating anabolic and catabolic signaling…”
Get full text

Suppression of protein kinase C theta contributes to enhanced myogenesis in vitro via IRS1 and ERK1/2 phosphorylation by Marino, Joseph S, Hinds, Jr, Terry D, Potter, Rachael A, Ondrus, Eric, Onion, Jeremy L, Dowling, Abigail, McLoughlin, Thomas J, Sanchez, Edwin R, Hill, Jennifer W

“…Differentiation and fusion of skeletal muscle myoblasts into multi-nucleated myotubes is required for neonatal development and regeneration in adult skeletal…”
Get full text

Phase 1/2a Trial of SRP-9001 in Patients with Duchenne Muscular Dystrophy: 3-Year Safety and Functional Outcomes (S23.004) by Mendell, Jerry R., Sahenk, Zarife, Lehman, Kelly J., Nease, Carrie, Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Alfano, Lindsay N., Vaiea, Jordan, Lewis, Sarah, Church, Kathleen, Shell, Richard, Potter, Rachael A., Griffin, Danielle A., Pozsgai, Eric R., Hogan, Mark, Hu, Larry, Giblin, Kathryn, Rodino-Klapac, Louise R.

“…Abstract only…”
Get full text

A Phase 2 Clinical Trial Evaluating the Safety and Efficacy of SRP-9001 for Treating Patients with Duchenne Muscular Dystrophy (S23.002) by Mendell, Jerry R., Shieh, Perry B., Sahenk, Zarife, Lehman, Kelly J., Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Alfano, Lindsay N., Powers, Brenna, Woods, Jeremy D., Skura, Christy L., Mao, Howard C., Staudt, Loretta A., Potter, Rachael A., Griffin, Danielle A., Lewis, Sarah, Hu, Larry, Upadhyay, Sameer, Singh, Teji, Rodino-Klapac, Louise R.

“…Abstract only…”
Get full text

Glycemic Control, Skeletal Muscle Glucose Uptake And Lipid Metabolism In Mice With Skeletal Muscle Foxo1 Overexpression: 2686 Board #1 May 29, 2: 00 PM - 3: 30 PM by Schick, Evan E., Potter, Rachael A., Lee, Abraham, McLoughlin, Thomas J.

Get full text

The Impact of FoxO1 on Skeletal Muscle Protein Synthesis by Potter, Rachael A

“…The regulation of skeletal muscle is dependent upon the balance between protein synthesis and protein degradation. The FoxO1 transcription factor engages in an…”
Get full text