Conference Videos and Presentations


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Welcome and NPKUA Recap
Christine S. Brown, MS,
NPKUA Executive Director

Christine Brown, NPKUA Executive Director, gives a friendly welcome to the 2012 National Conference and a recap of some of the NPKUA’s accomplishments.


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Treating PKU: A Half-Century of Experience
Dr. Rodney Howell, MD

Since dietary treatment for PKU has been in place, enormous strides have been made in its treatment. Dr. Howell’s presentation details the long success in newborn screening and treatments for PKU, as well as some of the newer developments, and areas in which more research is needed.

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Improving Treatment Options and Accelerating a Cure Hepatocyte transplantation improves blood and brain phenylalanine and neurotransmitter imbalance in a mouse model of Phenylketonuria (PKU)
Dr. Kristen Skvorak, PhD

A Phenylalanine-restricted diet helps reduce most PKU symptoms, but it is expensive, tasteless, and brain defects can still occur. Cell transplantation into liver has treated other metabolic diseases clinically. Dr. Skvorak therefore proposes that transplantation of isolated liver cells would
increase liver enzyme activity, thus helping
improve PKU symptoms.


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Gene Therapy
Dr. Cary Harding, MD

Liver-directed gene therapy is a promising novel treatment approach for PKU. Dr. Harding expands on overcoming limitations, alternative approaches, and the overall goal of developing a safe and effective liver-directed gene therapy method.

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Maternal PKU: Offspring Follow-Up and Maternal Nutritional and Psychological Status
Dr. Harvey L. Levy MD

Dr. Levy and his research team conducted psychological and cognitive as well as physical and biochemical assessments on 27 families with maternal PKU, including 26 mothers and 47 offspring. Dr. Levy presents on the findings of follow-up of treated maternal PKU.


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GMP, Synthetic Amino Acids and Casein Control Diets on Osteopenia in PKU Mice
Dr. Denise Ney PhD, RD

PKU is associated with low bone mass (osteopenia) and fractures in early adulthood. It is unclear if the osteopenia is related to the PKU genotype, the low-phe diet, or both the genotype and diet. Dr. Ney’s presentation focuses on a greater understanding of the factors affecting bone development and how this will help improve care for PKU.


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Latest Findings on PKU and Executive Function: Expert Panel
Desiree White, PhD

Dr. White provides an overview of executive abilities in individuals with PKU. She details information regarding the development and assessment of cognition and academic abilities (with an emphasis on executive abilities), as well as recommendations for addressing difficulties in cognition and academic performance.


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Latest Findings on PKU and Executive Function: Expert Panel
Shawn Christ

Recent advances in magnetic resonance imaging (MRI) and other neuroimaging techniques provide an unprecedented opportunity to study the human brain at work. Dr. Christ’s presentation highlights recent neuroimaging research on PKU and how it has contributed to our understanding of the potential impact of PKU and increased phenylalanine levels on the brain.

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Latest Findings on PKU and Executive Function: Expert Panel
Kevin Antshel PhD

Kevin Antshel’s presentation focuses on specific strategies designed to lessen the impact of ADHD symptoms on academic, social and family functioning. Specific strategies are described for children, adolescents and adults.


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Clinical Research Update: Latest results in Clinical Trials and Advancements in Kuvan, PEG-PAL
Dr. Georgianne Arnold, MD

Dr. Arnold presents some of her thoughts on cognitive, neuropsychiatric and executive functioning problems in PKU and shares her personal reflections on patients taking part in the PKU ASCEND study. In addition Dr. Arnold discusses her thoughts on other areas of research interest in the field of PKU.

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Clinical Research Update: Latest results in Clinical Trials and Advancements in Kuvan, PEG-PAL
Dr. Jessica Cohen, MD

Dr. Cohen outlines some of the medical and scientific initiatives at BioMarin including descriptions of the PKU Demographics, Outcomes and Safety registry (PKUDOS), the PKUMOMS sub-registry and the BioMarin Investigator Sponsored Trials (IST) program.

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Clinical Research Update: Latest results in Clinical Trials and Advancements in Kuvan, PEG-PAL
Dr. Suyash Prasad, MD

Dr. Prasad gives a brief introduction on medicines development in Orphan Disease, the BioMarin Pipeline, and the Sapropterin (Kuvan) and PegPal clinical trials programs, including an overview of the PKU ASCEND (PKU 016) study exploring the matter of Neuropsychiatric and Cognitive function in PKU.


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Insurance Coverage and Reimbursement
Sean Corry & Beth Rader

Beth and Sean provide you with tools and skills to understand your own coverage, how to evaluate insurance options, and how to work with insurance companies or employers to make sure that you have proper PKU coverage.


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Strategies to Improve ADHD Symptoms
Kevin Antshel, PhD

This session focuses on specific strategies designed to lessen the impact of ADHD symptoms on academic, social and family functioning.
Specific strategies will be described for children, adolescents and adults.

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Transition to Adulthood
Gerald Vockley, MD, PhD and Heather Ricca

Topics discussed in this workshop include fostering a sense of awareness of PKU in pre-teens, building towards independence through middle and high school, and attracting young adults off therapy back to the PKU clinic. Tips for motivating and surviving your teen (or parents!) are shared.


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PKU Adult Program of the NPKUA
Sarah Foster and Justin Young, MD, DDS

This session focuses on specific strategies designed to lessen the impact of ADHD symptoms on academic, social and family functioning.
Specific strategies will be described for children, adolescents and adults.


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Maternal PKU Experiences and Strategies
for Success
Kathryn Moseley, MS, RD, and
Kerry Lewendoski

This workshop reviews the results of the Maternal PKU International Collaborative Study and identifies reasons for Maternal PKU pregnancy complications. Strategies for planning a pregnancy for a successful outcome are discussed as well as current recommendations and guideline

Non-Physiological Amino Acid (NPAA) Therapy in Phenylketonuria
K Michael Gibson PhD, FACMG

Dr. Gibson's research focuses on a new approach to PKU therapy that examines the ability of non-physiological amino acids (NPAAs) to lower brain phe levels and thereby restore brain amino acid equilibrium. Dr. Gibson's experiments examine the capacity of these NPAAs to maximally restrict entry of phe into the brain of PKU mice, while minimally altering the entry of other LNAAs.


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Genetically Engineered Probiotics
Kathrine Deming, MS

Katherine Deming overviews two research goals; to use a genetically engineered probiotic bacteria, L. reuteri to catabolize phe in vitro and, use the created probiotic in the PAHenu2 mouse model, in order to determine the efficacy of this new probiotic in vivo. The resulting outcome of this study will hopefully be to allow animals, and subsequently PKU patients to eat a “normal” diet by allowing the altered probiotic bacteria to compensate for their lack of functional PAH.


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Participating in Clinical Trials
Laurie Bernstein, MS, RD, FADA and Georgianne Arnold, MD

The panel on Understanding Clinical Trials addresses key questions including what clinical trials are and their importance to the research community and community of patients with rare genetic diseases. They discuss how to evaluate a clinical study, the risks and benefits, and how to assess the commitment level required and how critical that commitment is to a successful study. Their combined perspectives (PI, parent and patient) share insights along with their own personal experiences with this process.


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Latest results in Clinical Trials and Advancements in Kuvan, PEG-PAL

Dr. Georgianne Arnold, MD, Professor of Pediatrics, Clinical Director, Division of Medical Genetics, Children’s Hospital Pittsburgh of UPMC

What is Advocacy and Why Should I Care? Advocating at School, Your Workplace, Your State and Nation
Amy Oliver, JD & Annaliese Martinec

This breakout session covers the nuts and bolts of advocating for yourself or your family member, why advocacy is important and how to best advocate for PKU. Amy and Annaliese talk about specific needs associated with PKU and how you can best advocate for those needs.

 

Participating in Clinical Trials
Amy Oliver, JD, NPKUA Board of Directors and PKU Parent Julie Kelly, PKU Adult

The panel on Understanding Clinical Trials addresses key questions including what clinical trials are and their importance to the research community and community of patients with rare genetic diseases. They discuss how to evaluate a clinical study, the risks and benefits, and how to assess the commitment level required and how critical that commitment is to a successful study. Their combined perspectives (PI, parent and patient) share insights along with their own personal experiences with this process.


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Creating Action with Information: The Rare Disease Community
Cary Harding, MD

The final presentation by Dr. Harding highlights the promise of the future for PKU research and treatment. Dr. Harding asserts this promise can only develop from the collaborative efforts of many in the rare disease community.

Concluding Remarks
Richard Michaux

Dick Michaux, NPKUA President, gives the closing address of the Making PKU History conference.

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