Second Scientific Symposium on De Novo SPG4

The conference will be held in-person on Friday, December 8th from 8:30AM to 4:30PM ET.This is an in-person event.
Location: Natcher Conference Center (with hybrid option by invitation only)

Welcome to the Second scientific symposium on De Novo SPG4 hosted by the NINDS Intramural Research Program. This conference is sponsored by the Office of the Clinical Director of the National Institute of Neurological Disorders and Stroke (NINDS).

Mutations in SPAST when they occur de novo lead to a phenotype of childhood-onset cerebral palsy, as distinct from the classic adult-onset hereditary spastic paraparesis phenotype of SPG4. The goal of this second meeting is to bring together clinicians, basic scientists, and patient advocates, to discuss interim developments in translational research in the field and foster collaborations to bring therapeutic strategies in development to clinical trials, specifically genomic therapies like antisense oligonucleotides and gene therapy.

We look forward to an exciting meeting!

Please contact Ariane Soldatos if you have any questions.

Agenda

8AM - 8:30AM | Registration
 

8:30AM - 8:40AM | Welcome and goals for the day

• Ariane Soldatos, MD, MPH, Pediatric Neurologist, NINDS
• Chris Lorek & Katie Zimmerman Gregg, The Lilly and Blair Foundation

8:40AM - 9AM | Opening Remarks NINDS

• Jeffrey Diamond, PhD, Scientific Director, NINDS
• Avindra Nath, MD, Clinical Director, NINDS
• Carsten Bonnemann, MD, NINDS, Neuromuscular & Neurogenetic Diseases of Childhood, Neurogenetics Branch, NINDS

9AM - 9:15AM | Opening Remarks NCATS

• Dominique Pichard, MD, MS (*joining by zoom)
  Director, Division of Rare Diseases Research Innovation, National Center for Advancing Translational Science (NCATS)

9:15AM-10:30AM | Session 1

Clinical Studies / Biomarkers of disease progression / Outcome Measures

• Defining clinical and patient reported outcomes for adult HSP
  Martin Regensburger, MD
  Neurologist, Movement Disorders Unit
  Universitätsklinikum Erlangen, Department of Molecular Neurology, Erlangen, Germany
   
• Defining clinical and patient reported outcomes for childhood HSP
  Michelle Christie, MD
  Director of Neurology and Rehabilitation Medicine, and Clinical Neurophysiology, at Scottish Rite for Children
  Assistant Professor of Child Neurology at UTSW, Dallas, Texas
   
• HSP-CERN Centers of excellence
  Darius Ebrahimi-Fakhari, MD, PhD
  Director, Movement Disorders Program
  Boston Children’s Hospital, Harvard Medical School, Boston, MA

Discussion Question:
What are the ideal outcome measures for evaluating therapeutics in SPG4?

Facilitators

• Katherine Alter, MD
  Medical Director, Neurorehabilitation and Biomechanics Research Section, Rehabilitation Medicine Department, NIH Clinical Center
   
• Diane Damiano, PhD, FAPTA
  Chief of Neurorehabilitation and Biomechanics Research Section
  Rehabilitation Medicine Department, NIH Clinical Center
   
• Grace Yoon, MD (*joining by zoom) Toronto, Canada
  Director, Neurogenetics Clinic
  Hospital for Sick Children, University of Toronto,

10:30AM-10:45AM | Coffee break
 

10:45AM-12:00PM: Session 2

Pathophysiology / in-vitro and animal models

• Liang Oscar Qiang, MD, PhD
  Co-Director, Center for Cellular and Molecular Neuroscience
  College of Medicine, Drexel University
   
• Patient and gene-edited iPSC lines and “-omics” in SPG4
  Stefan Hauser, PhD
  German Center for Neurodegenerative Diseases (DZNE)
  Tübingen, Germany

Discussion Question:
What are the key mechanisms that need to be understood?

Facilitators

• Stephan Züchner, MD, PhD
  Professor for Human Genetics and Neurology
  Chief Genomics Officer, University of Miami Miller School of Medicine
   
• Gerardo Morfini, PhD
  Dept of Anatomy & Cell Biology, College of Medicine
  University of Illinois at Chicago

12PM-1PM | Lunch
 

1PM - 2:15PM | Session 3

ASO

• Kurt Fischbeck, MD
  NIH Distinguished Investigator
  Neurogenetics, NINDS
   
• Peter Baas, PhD
  Professor, Department of Neurobiology and Anatomy
  Director, Center for Cellular and Molecular Neuroscience
  Drexel University College of Medicine, Philadelphia, PA

Discussion Question:
What are the roadblocks to developing an ASO-approach for this disease?

Facilitators

• Craig Blackstone, MD, PhD (*joining by zoom)
  Professor of Neurology, Harvard Medical School
  Chief, Movement Disorders, Massachusetts General Hospital
   
• Christopher Grunseich, MD
  Hereditary Neurological Disease Section, Neurogenetics Branch, NINDS

2:15PM - 2:30PM  | Coffee break

2:30PM - 3:45PM: Session 4
Gene Therapy / Editing

• Vectors & animal models for gene tx in SPG4
  Miguel Sena Esteves, PhD, Horae Gene Therapy Center
  Director, Translational Institute for Molecular Therapeutics
  UMass Chan Medical School, Worcester, MA
   
• Mouse model for SPG4
  Emanuela Piermarini, PhD, Drexel University College of Medicine
  Bovine model
  Heather Gray-Edwards, DVM, PhD
  Horae Gene Therapy Center, UMass Chan Medical School, Worcester, MA

Discussion Question:
What is the best way to test a gene replacement approach?

Facilitator

• Carsten Bonnemann, MD, NINDS
  Neuromuscular & Neurogenetic Diseases of Childhood, Neurogenetics Branch, NINDS

3:45PM-4:30PM | Next Steps, Open discussion

Logistics

Conference venue

The conference will be held in the Natcher Building (building 45), the conference center on the NIH campus. You can walk there from the visitor security screening building or there is also an NIH-wide campus shuttle that you can take to get there.

*Please note you will need a photo ID (U.S. driver’s license or passport) and can take up to 30 mins to get through the NIH visitor center security to get on campus.

Hotel options

Bethesda Marriott
5151 Pooks Hill Road, Bethesda, MD
(301) 897-9400
Complimentary shuttle directly to the NIH Clinical Center departs at 7:30 AM

Hyatt Regency Bethesda (directly above Metro)
One Bethesda Metro Center, Bethesda, MD
Wisconsin Ave. at Old Georgetown Road
(301) 657-1234, 1-800-233-1234
This is one metro stop away from the NIH clinical center.

Welcome drinks / dinner
Reservation from 4PM-9PM on Thursday Dec 7^th for those who are available to drop by
Black’s Bar & Kitchen in Bethesda
7750 Woodmont Ave, 301-652-5525