Neuromuscular Disease Foundation (NDF) is pleased to announce the GNE Myopathy related research projects selected for funding in 2021. Recipients include a global coterie of GNEM experts such as the Lek Lab at Yale School of Medicine, Dr. Paul Martin’s lab at The Abigail Wexner Research Institute at Nationwide Children’s Hospital, University of Washington, as well as NDF’s charter grantee, Dr. Stella Mitrani-Rosenbaum at Hadassah Hebrew University Medical Center in Israel, among several others listed below.

NDF’s Scientific Advisory Review Committee and its Board of Directors carefully vetted numerous applicants to ensure that the majority of studies awarded directly support remaining studies needed in order to complete the necessary data required by the FDA for an investigative new drug (IND) application in support of gene therapy for the disease.

“These are exciting times at the intersection of genetics and technology as gene manipulation is a relatively new area in science, and particularly challenging for muscle disorders” said Lalé Welsh, NDF’s CEO “A watchful and steady process has been crucial in allowing our team to emulate the successes of gene therapy trials that have gone before us, such as the SMA trial, while learning from the pitfalls of other, more complicated efforts over the past two years. We are profoundly grateful to have had generous guidance in this area from so many members of both industry and academia to help address safety concerns for our patients world-wide”.

Dr. Tahseen Mozaffar, member of NDF’s Board of Directors and Scientific Advisory Committee added, “NDF has been aggressive in its quest to pursue  treatments and gene therapy for GNEM. Most of the 7000 orphan diseases do not have any approved treatments, and NDF is way ahead of the game”.

The following research proposals have been recommended by NDF’s 2021 Scientific Proposal Review Committee and approved for funding by the NDF Board of Directors, all of which aim to address feedback given by the FDA and were underscored in a gap analysis led by NDF’s Chief Medical Officer, Dr. Nuria Carrillo.

  1. Dr. Kaya Bork and Dr. Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Berlin, Germany –  Development of sensitive and robust enzyme assays for GNE (UDPN-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase)
  2. Dr. Kelly Crowe, Department of Biology, Mount St. Joseph University –  Evaluation of Lectin Staining Biomarkers in Pre-Clinical Models of GNEM
  3. Dr. Julie Crudele, Department of Neurology, University of Washington – Development and preclinical assessment of AAV-GNE gene therapy
  4. Dr. Monkol Lek, Lek Lab, Yale School of Medicine – High throughput genetic screening assay for GNE
  5. Dr. Paul Martin, Abigail Wexner Research Institute at Nationwide Children’s Hospital- Development and gene therapy testing of a new disease model for GNE Myopathy.
  6. Dr. Stella Mitrani-Rosenbaum, Hadassah Hebrew University Medical Center-Establishment of GNE knock out muscle cells for the assessment of GNE related biomarkers and Gne knock out muscle conditional mouse for the assessment of AAVGne gene therapy
  7. Dr. Wakako Yoshioka, Department of Neuromuscular Research at The National Center of Neurology and Psychiatry in Japan – Activation of endogenous mutated GNE product by small compound.
  8. Additional resources are being devoted to work with mouse models by a CRO and will be announced soon.

NDF has also earmarked funds for its other keystone programs which support patient advocacy, education and awareness, and offer a GNEM-specific, multi-disciplinary clinic in collaboration with UC Irvine. For lay summaries and more information about NDF-funded studies, click here.