Medical Professional Publications

Nationwide Children’s Hospital Researchers Highly Represented at the World Muscle Society’s 19th Annual Congress in Berlin

(From the November 2014 Research Now)

Nationwide Children’s Hospital and the Center for Gene Therapy at The Research Institute at Nationwide Children’s were highly represented at the World Muscle Society’s 19th Annual Congress in Berlin. Investigators from Nationwide Children’s were authors or co-authors on 17 presentations among the 406 abstracts submitted, including 6 of the 28 abstracts selected for oral presentations and 1 of the 10 invited lectures.

Among the 23 prizes awarded, six of these were awarded to researchers from Nationwide Children’s:

  • Patricia Sondergaard, post-doctoral scientist in the Rodino-Klapac lab at the Center for Gene Therapy, was awarded one of only four prizes for best oral or poster presentation for her project, entitled “AAV gene transfer utilizing homologous overlap vectors mediates functional recovery of dysferlin deficiency.”
  • Linda Lowes, clinical therapies research coordinator for the Neuromuscular Program at the Center for Gene Therapy, received the Lea Rose prize for the best presentation on spinal muscular atrophy, for her oral presentation, “Reliability and validity of the ACTIVE-mini (Ability Captured Through Interactive Video Evaluation-mini) to quantify infant movement.”

The following individuals from Nationwide Children’s Hospital were winners of the Elsevier prizes for outstanding presentations:

  • Eric Pozsgai, in the Rodino-Klapac lab at the Center for Gene Therapy, for “Alpha-Sarcoglycan gene transfer leads to functional improvement in a model of LGMD2E”
  • Danielle Griffen, in the Rodino-Klapac lab at the Center for Gene Therapy, for “Novel ANO5 KO Mouse Provides New Insight into LGMD2L Pathogenesis”
  • Lindsay Wallace, in the Harper lab at the Center for Gene Therapy, for “The DUX4 promoter mouse: The next generation”
  • Lindsay Alfano, for the Neuromuscular Program at the Center for Gene Therapy, for “Pilot study evaluating motivation on the performance of timed walking in boys with Duchenne muscular dystrophy”

A complete list of all presentations from Nationwide Children’s Hospital is below.

Abstracts selected for oral presentations

G.O.9
AAV gene transfer utilizing homologous overlap vectors mediates functional recovery of dysferlin deficiency. P.C. Sondergaard; D.A. Griffin; E.R. Pozsgai; R.W. Johnson; J.R. Mendell; L.R. Rodino-Klapac

G.O.15
Effect of early and late restoration of SMN in SMA animal models and identification of genes downstream of SMN. A. Burghes; D. Arnold; S. Duque; V. McGovern; C. Ruhno; C. Iyer; K. Meyer; B. Kaspar

G.O.16
Reliability and validity of the ACTIVE-mini (Ability Captured Through Interactive Video Evaluation -mini) to quantify infant movement. L.P. Lowes; L.N. Alfano; K.M. Berry; S. Wolock; R.W. Rumpf; W. Ray; A. Meyer; J. Jackson; A. Firmalan; K.M. Flanigan; B. Kaspar; J.R. Mendell

G.O.24
Eteplirsen in Duchenne Muscular Dystrophy (DMD): 3 year update on Six-Minute Walk Test (6MWT) and Safety. J.R. Mendell; L. Rodino-Klapac; Z. Sahenk; K. Roush; L. Bird; L.P. Lowes; L. Alfano; A.M. Gomez; S. Lewis; V. Malik; K. Shontz; K.M. Flanigan; C. Shilling; P. Sazani; J. Saoud; P. Duda; E. Kaye

G.O.25
Follistatin Gene Therapy for Becker Muscular Dystrophy. J.R. Mendell; Z. Sahenk; L.R. Rodino-Klapac; K.R. Clark; K.R. Lewis; K. Shontz; S. Al-Zaidy; L. Alfano; L.P. Lowes; K. Berry; V. Malik; C.J. Shilling; X.Q. Rosales; C.M. Walker; K.M. Flanigan; M. Hogan; B.K. Kaspar

G.O.26
Human α7 integrin gene (ITGA7) delivered by adeno-associated virus reverses the phenotype of the double knock out (DKO) mouse devoid of dystrophin and utrophin. K.N. Heller; C.L. Montgomery; K.M. Shontz; K.R. Clark; J.R. Mendell; L.R. Rodino-Klapac

Invited lecture:

L.I.4
Developing therapies in the LGMDs. K.M. Flanigan

Poster presentations:

T.P.1
Pilot study evaluating motivation on the performance of timed walking in boys with Duchenne muscular dystrophy. L.N. Alfano; L.P. Lowes; K.M. Berry; H. Yin; I. Dvorchik; K.M. Flanigan; L. Cripe; J.R. Mendell

T.P.38
Initial validity and test-retest reliability of ACTIVE-seated (Ability Captured Through Interactive Video Evaluation-seated) as an upper extremity outcome in Duchenne muscular dystrophy. L.P. Lowes; L.N. Alfano; K.M. Berry; H. Yin; I. Dvorchik; K.M. Flanigan; J.R. Mendell

G.P.10
The DUX4 promoter mouse: The next generation. L.M. Wallace; J. Liu; S.E. Garwick-Coppens; S.M. Guckes; C. Smith; J. McBride; S.Q. Harper

G.P.94
Induction of the N-truncated dystrophin by out-of-frame exon 2 skipping restores muscle function in the Dup2 mouse, providing further support for a therapeutic pathway for 5’ DMD mutations. N. Wein; A. Vulin; T. Simmons; K.N. Heller; A. Rutherford; L.R. Rodino-Kaplac; D. Johnson; R.B. Weiss; F. Muntoni; K.M. Flanigan

G.P.96
Dose escalation studies of rAAV9 U7snRNA targeting exon 2 show highly efficient skipping in the Dup2 mouse. T. Simmons; N. Wein; A. Vulin-Chaffiol; K. Heller; A. Rutherford; K. Shontz; K. Flanigan

G.P.110
Safety and pharmacokinetic profile of eteplirsen, SRP-4045, and SRP-4053, three phosphorodiamidate morpholino oligomers (PMOs) for the treatment of patients with Duchenne muscular dystrophy (DMD). P. Sazani; T. Magee; J.S. Charleston; C. Shanks; J. Zhang; M. Carver; L. Rodino-Klapac; Z. Sahenk; K. Roush; L. Bird; L.P. Lowes; L. Alfano; A.M. Gomez; S. Lewis; V. Malik; K. Shontz; K. Flanigan; C. Shilling; J. Bhalli; H. Kaur; J. Walisser; J. Forget; J. Saoud; J.R. Mendell; E. Kaye

G.P.112
Pulmonary function is stable through week 120 in patients with Duchenne muscular dystrophy (DMD) treated with exon-skipping drug eteplirsen in phase 2b study. J.R. Mendell; L.P. Lowes; L. Alfano; J. Saoud; P. Duda; E. Kaye

G.P.167
Clinical Trial Readiness for Non-Ambulatory Boys and Men with Duchenne Muscular Dystrophy: 12 and 24 Month Follow-up from the MDA-DMD Network. A.M. Connolly; E.C. Malkus; J.R. Schierbecker; C.A. Siener; P. Anand; J.R. Mendell; K.M. Flanigan; P.T. Golumbek; C.M. Zaidman; C.M. McDonald; E. Henricson; L. Johnson; A. Nicorici; P.I. Karachunski; J.W. Day; J.M. Kelecic; L.P. Lowes; L.N. Alfano; B.T. Darras; P.B. Kang; J.M. Florence

G.P.227
Alpha-Sarcoglycan gene transfer leads to functional improvement in a model of LGMD2E. E.R. Pozsgai; D.A. Griffin; K.N. Heller; J.R. Mendell; L.R. Rodino-Klapac

G.P.289
Novel ANO5 KO Mouse Provides New Insight into LGMD2L Pathogenesis. D. Griffin; E. Pozsgai; R. Johnson; W. Grose; K. Heller; J.R. Mendell; Z. Sahenk; L.R. Rodino-Klapac

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