MitoAction Expert Series

Join MitoAction and Matthew Klein and Francesco Bibbiani from PTC Therapeutics for our November Mito Expert Series presentation.

 

About the Speakers

Matthew B. Klein, MD, MS, FACS is Chief Development Officer at PTC Therapeutics, Inc. Prior to joining PTC, Dr. Klein was CEO and Chief Medical Officer of BioElectron Technology Corporation, a biotechnology company focused on development of redox active small molecules for mitochondrial disease and related disorders of oxidative stress. Prior to joining BioElectron, Dr. Klein was the Auth-Washington Research Foundation Chair of Restorative Burn Surgery at the University of Washington. Dr. Klein completed his undergraduate degree at the University of Pennsylvania where he graduated summa cum laude and Phi Beta Kappa, and received his MD degree with honors from Yale University.

 

Francesco Bibbiani is a board-certified neurologist with over 20 year experience in clinical development between the pharmaceutical industry and the Experimental Therapeutic Branch (ETB) of the National Institute of Health (NIH), where we conducted proof of concept trials in several neurological indications. In his past positions, Francesco conducted various clinical trials in Alzheimer disease, epilepsy and liver disease, all studies that led to multiple regulatory submissions and approvals with the FDA, EMA and other global regulatory agencies. Currently, he is the Vice President of Clinical Development at PTC Therapeutics, where he is the clinical lead of the DMD and mitochondrial epilepsy projects.  Francesco received his MD degree with honors from the University of Pisa, Italy where he also completed his residency program in Neurology, with honors.

The annual town meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We’ll hear from organizations, camps, and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.

The following will participate in the meeting!

Courtagen Life Sciences, Inc.

ThriveRx

Camp Korey

Mitochondrial Research Guild

Mito Hope & Help

Mito 411

Genetic Metabolic Institute

Massachusetts General Hospital

Miracles for Mito

Edison Pharma

MitoQ

Double H Ranch camp

Reata Pharmaceuticals

Foundation for Mitochondrial Medicine

Victory Junction camp

GeneDx

UMDF

MitoCanada

AMDF (Australian Mitochondrial Disease Foundation)

NIH

Mitochondrial Medicine Society

Stealth BioTherapeutics

What are fatty acid oxidation disorders, and why are they related to mitochondrial disorders?

Additional areas of discussion include:

Do patients with mitochondrial defects also have the potential to have fatty acid oxidation defects?

How do disorders of metabolism such as FAOD and mitochondrial disease impact the body’s ability to grow, develop and function?

What is the current focus in research for understanding and treating FAODs?

Special appreciation to Ultragenyx Pharmaceutical for support of this presentation.

About the Speaker

Dr. Jerry Vockley, University of Pittsburgh Cleveland Family Professor of Pediatric Research and Professor of Human Genetics at the Children’s Hospital of Pittsburgh of UPMC. Dr. Vockley is the Chief of Medical Genetics and Director of the Center for Rare Disease Therapy.

 

To view the accompanying slides, click here.

A conversation with the public policy team for the National Organization for Rare Disorders (NORD).

Topics of discussion will include:

Current federal and state legislative priorities for NORD;

NORD’s interaction with the Food & Drug Administration, National Institutes of Health and the Center for Medicare & Medicaid Services;

Status of issues important to the Mito community, including mandated insurance coverage for medical foods, vitamins and supplements used to treat rare diseases and legislation relating to orphan drugs;

How NORD works with families on legislation, including NORD’s legislative priorities as well as issues families bring to NORD; and

What patients and families can do to make sure their voices are heard on issues that are important to them.

NORD is a non-profit organization which supports individuals with rare diseases through advocacy, education, research grants and networking among service providers. NORD’s Washington, D.C.-based policy team provides a consistent voice for rare disease patients and families on Capitol Hill and beyond.

Speakers include  Martha Rinker JD, VP of Public Policy, Paul Melmeyer, Assistant Director of Public Policy, and Tim Boyd, Associate Director of Public Policy.

Attachments:

 NORD Supported Legislation 2016 RDD.pdf

 NORD State Legislative Priorities 2016.pdf

 

About The Speaker

Martha Rinker JD is NORD’s Vice President of Public Policy leading the public policy team on matters affecting the rare disease community. Martha is responsible for all Federal and State legislative and regulatory issues and the development and implementation of advocacy strategy and relationships with key stakeholders. Prior to joining NORD, Ms. Rinker was the Chief Advocacy Officer for the American Association of Diabetes Educators (AADE), the Legislative Counsel and Senior Director of Policy, Practice and Advocacy for the American Podiatric Medical Association (APMA) and the Director of Government Relations for the American Orthotic and Prosthetic Association (AOPA).  In addition, Ms. Rinker was the Legislative Director for Congresswoman (now Senator) Barbara Mikulski of Maryland and held staff positions with both the Pennsylvania Senate and the Maryland General Assembly.

Paul Melmeyer currently serves as the Assistant Director of Public Policy at the National Organization for Rare Disorders. In this role, Paul leads the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy.  Prior to joining NORD, Paul held positions with the Center for Amer

As patients or caregivers, it is frightening to think about what would happen if we could not advocate for ourselves.  Fortunately, there are legal documents that can be used to communicate our wishes under such circumstances.  This type of legal preparation is called incapacity planning and guardianship.

Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts, will be speaking on the basics of incapacity planning and guardianship and will answer any questions patients or caregivers may have about this type of legal preparation.  Questions to be answered include:

What is a power of attorney?

Why do you need to create different power of attorney documents for finances and health care?

What happens if you do not have power of attorney documents set up in advance?

What is a guardian, and why would you need for one to be designated?

What documents are required to appoint someone as a guardian?

 

To view the accompanying slides, click here.

Dr. Amy Goldstein provides an update on the Mitochondrial Medicine Society.

Areas of discussion include:

Transplantation in Mito patients

Stroke protocol for MELAS

Standards of care for Mito patients

Centers of Excellence and the need for community involvement/input

About the Speaker

Dr. Amy Goldstein, a member of the Board of Trustees of UMDF, is on faculty at Children’s Hospital of Pittsburgh of UPMC in the Division of Pediatric Neurology. She is board certified in pediatrics, neurology, and psychiatry with Special Qualifications in Child Neurology. She is currently an Assistant Professor at the University of Pittsburgh School of Medicine. She began a multidisciplinary Mitochondrial Disease clinic in 2007 and is now the Director of Neurogenetics & Metabolism and the site Principle Investigator for NAMDC (the North American Mitochondrial Disease Consortium). She is also President of the Mitochondrial Medicine Society. Her clinical research interests include improving fatigue and exercise intolerance as well as developing common patient-centered outcome measures for clinical trials.

 

To view the accompanying slides, click here.

Summertime is a time of changed routines for many Mito families. Camp programs, such as those supported by the Matthew Harty Camper Fund, provide special opportunities for children with mitochondrial disease.  Mitochondrial disease patients often qualify for and benefit from extended school year services through local school systems as well. Documenting the child’s needs to care providers as well as knowing your family’s rights to extended school year services can make a huge difference in your child’s summer experience.

Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts, will be speaking on the basics of extended school year planning and will answer any questions patients or caregivers may have about summertime planning.

Questions to be answered include:

Does my child qualify for extended school year services?

How do I obtain extended school year services for my child?

How does extended school year planning fit into the IEP process?

What do I need to do to make sure my child’s needs are met at summer camp?

To view accompanying slides, click here.

Join MitoAction and Dr. Irina Anselm for our October Mito Expert Series presentation titled, “Overlap Between Mitochondrial Disorders and Disorders of Neurotransmitter Metabolism”.  This presentation is brought to you by PTC Therapeutics.

 

About the Speaker

Irina A. Anselm, MD, is Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children’s Hospital. A pediatric neurologist with special interest in genetics and hereditary disorders, she cares for children with neurometabolic, neurodegenerative, and mitochondrial disorders. She serves as the Department of Neurology’s clinical expert for Boston Children’s Precision Medicine Service.  Her research focuses on the genetics, diagnosis, and management of these disorders, which range from mild to devastating. She is the Principal Investigator of a study investigating the use of experimental drug dichloroacetate (DCA) as a treatment for chronic elevation of blood lactate levels resulting from mitochondrial disorders.  She is a Co-investigator on a multicenter trial for treatment of patients with mitochondrial disorders with intractable seizures. She also is a Co-investigator on a natural history study of patients with creatine transporter deficiency. She has a special interest in disorders of neurotransmitter metabolism and works closely with a company that developed gene therapy for one of these disorders. Major publications include 35 original reports in peer-reviewed journals and 4 chapters, and she is a reviewer for the Journal of Pediatric Neurology, Current Pediatric Reviews, and the Journal of Child Neurology.

 

To view the accompanying slides, click here.

Join MitoAction and featured guest Kyle Bryant of the Two Disabled Dudes for a community call to encourage and inspire you as we kick off Mitochondrial Disease Awareness Week!  The topic of the call will be: Life Is About How We React – including themes of overcoming obstacles, people-first language, and self image.  There will be a Q&A following the discussion.

About Kyle

At age 17 Kyle Bryant was devastated when he was diagnosed with a rare, debilitating, life-shortening disease called Friedreich’s Ataxia. Walkers, wheelchairs, vision loss, hearing loss and a pre-mature death were all in his future.

However, Kyle took this bleak situation and turned it into an opportunity to provide hope to the FA community and empower others, riding his recumbent trike thousands of miles and raising millions for FA research.

Now, Kyle shares his outlook about how to turn adversity into opportunity in his keynote speeches. Kyle is sure to change perspectives and inspire your audience to action.

Kyle graduated from University of California at Davis with a degree in Civil Engineering. Worked 5 years as an engineer before finding his calling through cycling and spreading empowerment to others. As the founder/director of rideATAXIA for the Friedreich’s Ataxia Research Alliance (FARA), Kyle and his team produce family friendly bike rides across the country to empower those with FA and raise funds for research. rideATAXIA currently has 6 locations nationwide and has raised over $7 million for FA research since 2007. Kyle’s favorite place to be is on his Catrike and he is probably on the road or bike trail at this very moment.

Join MitoAction and Gena Padgett, a licensed school psychologist for our August Monthly Mito Expert Series presentation titled IEP Considerations for Students with Mitochondrial Disorders.

About the Speaker:

Gena Padgett is a licensed school psychologist and teacher for the Deaf and hard of hearing in the state of Indiana.  She completed her Bachelor’s degree in Deaf Education at Converse College in Spartanburg, South Carolina and received her Master’s degree in Linguistics from Gallaudet University in Washington, DC.  Gena proceeded to Indiana State University in Terre Haute, Indiana where she received her training in School Psychology.  She has been an educator for over 25 years with a specialty in evaluating students with low incidence disabilities and health conditions.

To view the accomanying slides, click here.