width=Tuesday, November 13 – Thursday, November 15, 2012

Hyatt Dulles – Executive Meeting Center
2300 Dulles Corner Blvd., Herndon, VA

Near Dulles International Airport in the Washington DC area


  • Krystof Bankiewicz, MD PhD – University of California, San Francisco
  • David Cox, MD PhD – Pfizer
  • Tom Crawford, MD – Johns Hopkins Hospital
  • Shyamal Desai, PhD – Lousiana State University
  • David Eidelberg, MD – The Feinstein Institute for Medical Research
  • Miguel Esteves, PhD – University of Massachusetts Medical School
  • Howard Federoff, MD PhD – Georgetown School of Medicine
  • Steve Hitchcock, PhD – Envoy Therapeutics
  • Peter Hodder, PhD – Scripps Florida
  • Karl Johe, PhD – Neuralstem, Inc.
  • Gene Johnson, PhD – Washington University
  • Michael Kastan, MD PhD – Duke Cancer Institute
  • Kamran Khodakhah, PhD – Albert Einstein College of Medicine
  • Joanne Kurtzberg, MD – Duke University Medical Center
  • Martin Lavin, PhD – Queensland Institute of Medical Research, Australia
  • Howard Lederman, MD PhD – Johns Hopkins Hospital
  • Bernard Malfroy, PhD – Mindset Rx
  • Margot Mayer-Proschel, PhD – University of Rochester
  • Mike McGrath, MD PhD – University of California, San Francisco
  • Andreea Nissenkorn, MD – Sheba Medical Center, Israel
  • Mahendra Rao, MD PhD – NIH Center for Regenerative Medicine
  • Terry Sanger, MD PhD – University of Southern California
  • Nolan Sigal, MD PhD – Retrotope
  • Evan Snyder, MD PhD – Sanford Burnham Medical Research Institute
  • Peter Strick, PhD – University of Pittsburgh
  • John Swart, PhD – Exemplar Genetics
  • Nora Volkow, MD – National Institute on Alcohol Abuse and Alcoholism
  • David Wassarman, PhD – University of Wisconsin
  • William Whitehouse, MD – University of Nottingham, U.K.

The A-T Children’s Project brought together longstanding A-T researchers and clinicians as well as newly recruited experts in cerebellar function, movement disorders and drug discovery to prioritize treatments that can be tested in patients soon and to identify obstacles that may be preventing more rapid discovery and evaluation of additional therapies. While recognizing that the cancer-, immune- and lung-related problems experienced by many A-T patients merit our attention, we wanted this particular meeting to focus on the neurological deficit caused by the disease.

There were no abstract books, poster sessions or lectures. Rather, in carefully planned sessions, qualified moderators led dynamic discussions between expert panel members on critical topics. Audience members used microphones to interact with panel members throughout the entire meeting.

Emphasis was placed on maintaining scientific rigor, challenging accepted dogma, and proposing innovative research strategies. Our goal was to produce a list of achievable research plans that will cost-efficiently yield definitive answers and guide us to promising treatments for the neurological challenges faced by children and young adults with A-T.


Part 1: A-T Animal and Cell-based Models

Session A: Status of A-T Animal and Cell-based Models

Part 2: Disease Modification Strategies

Session B: Pursuing Therapeutic Targets Based on ATM Signaling Pathways
  • The ATM gene was cloned in 1995. Since then, well over 700 substrates and interacting proteins have been identified for the ATM protein. After all these years, have we still failed to identify a clinically relevant target protein that we want to modulate?
  • If no therapeutic targets have been identified yet, are there new, clinically relevant phenotypic assays that could be optimized for high-throughput drug screens?
  • Can whole-genome sequencing identify genes that modify the A-T phenotype?
Session C: Addressing Oxidative Stress, Mitochondrial Dysfunction and Autophagy
  • How strongly should we address the mitochondrial dysfunction observed in A-T cells?
  • How strongly should we address oxidative stress and antioxidant strategies more potent than simple 1:1 antioxidant scavengers (e.g., EUK-207, Protandim, BG-12, XJB-5-131)?
  • How strongly should we address the role of autophagy in A-T?
Session D: Neuroinflammation and Immune Modulatory Therapies
  • Is there enough evidence of an inflammatory component in A-T to consider anti-inflammatory approaches?
  • How do currently planned trials of low-dose steroids rank compared to other therapies that we may want to test?
  • What is the scientific rationale beyond anecdotal evidence?
Open Discussion: Are there other strategies related to the disease process?

Session E: Stem Cell Therapies and Bone Marrow Transplants

  • Is it still too early to consider stem cell therapies (e.g., direct transplant with NSCs or MSCs, ex-vivo correction of ATM mutations in autologous cells or as vectors to supply growth factors or neurotrophic factors)?
  • Is it worth pursuing bone marrow transplantation protocols to correct the immunologic and/or neurologic deficits associated with A-T (including genetically modified bone marrow stem cells or banked umbilical cord blood stem cells for unrelated marrow transplants)?

Session F: Gene Therapy and Mutation-targeted Approaches

  • Should we revisit gene therapy to deliver a functioning ATM gene to the brain?
  • What about the efficacy of DNA read-through approaches or other mutation-targeted approaches?
Session G: Neurotrophic and Growth Factors
  • Should we revisit neurotrophic factors (e.g., BDNF)?
  • Should we revisit growth factors (e.g., GH, IGF-1)?
Open Discussion: Are there other strategies for slowing neurodegeneration?

Part 3: Symptomatic Strategies

Session H: Elucidating the Neurocircuitry of A-T
  • Does our current understanding of the disrupted circuitry in A-T suggest specific neuronal populations whose activity should be modulated (e.g., deep cerebellar nuclei, striatum)?
  • What technologies should be employed to increase our understanding of the abnormal circuitry in A-T?
Session I: Modulating the Neurocircuitry of A-T
  • Is there therapeutic potential in deep brain stimulation, trans-cranial magnetic stimulation, SK channel activators (e.g., riluzole), potassium channel blockers (e.g., 4-aminopyridine) or Levadopa?
  • Do we fully understand the extent to which longstanding neurological drugs (e.g., artane, clonazepam, baclofen) can be helpful in improving the quality of life for A-T patients?
  • Should we focus on drug repurposing efforts?
Closing Discussion: Prioritizing research strategies for potential treatments for A-T

Contact Us

Related News

Jun 12 @ 4:14 pm

Art of Nursing Award

A-T Clinic Nurse, Jenny Wright, RN is the recipient of the 2024 Art of Nursing award!

Jun 12 @ 4:14 pm

Shining a Light on A-T at the IlluminATion Ball

The A-TCP is hosting IlluminATion: A BioPharma Leadership Ball on May 11 in Boston to shine a light

Jun 12 @ 4:14 pm

NEAT Study – Phase 3 Clinical Trial of EryDex, a Low-Dose Steroid

Quince Therapeutics is advancing a phase 3 clinical trial to evaluate EryDex, a potential new treatment for ataxia-telangiectasia

Jun 12 @ 4:14 pm

Measles Prevention in A-T: Recommendations from Dr. Lederman

Dr. Lederman of the A-T Clinical Center provides recommendations to keep people with A-T from catching measles.