Advancing knowledge in rare diseases: independent, professional education and training

www.RRD-foundation.org

The changing spectrum of IMD: Surviving longer and growing old with IMDs

21 - 23 May 2015Washington DC

Course descriptionUntil quite recently inborn metabolic diseases (IMDs) were considered diseases for pediatricians. However, as the recognition, diagnosis and management of IMDs improves, a new set of challenges, arise. Pediatric patients with classical IMDs are surviving longer, requiring transition to adult physicians who traditionally have little experience with them. The complex, multisystem problems in IMD patients are compounded by the episodes of metabolic decompensation characteristic of many IMDs, for which most adult medicine physicians are unprepared. In addition, many IMDs can present in mild form in adolescence or adulthood, while other disorders specific to adulthood are increasingly being identified. This concept of “adult onset IMDs” is still under recognized in the adult medical community and thus their exact prevalence is unknown. This course, aimed at both pediatric and adult metabolic specialists and trainees, will discuss and address a number of controversies in the management of older patients with IMDs. The course is restricted to 50 participants plus faculty.

Learning objectives:• To understand how treating an adult differs from treating pediatric patients.• To facilitate communication among physicians looking after adult patients with IMD.• To promote awareness of rare disorders that are increasingly recognized in adult medical practice.• To appreciate which services will be unique to adult patients.• To discuss the impact of common adult disorders on metabolic disease.

The changing spectrum of IMD: Surviving longer and growing old with IMDs

21 - 23 May 2015Washington DC

Provider organisationsCHILDREN’S HOSPITAL OF PITTSBURGH, THE DIVISION OF MEDICAL GENETICSRenowned for its outstanding clinical services, research programs and medical education, Children’s Hospital of Pittsburgh of UPMC has helped establish the standards of excellence in pediatric care. From Ambulatory Care to Transplantation and Cardiac Care, talented and committed pediatric experts care for infants, children and adolescents who make more than 1,000,000 visits to Children’s, its many neighborhood locations, and Children’s Community Pediatrics practices each year.

The Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC maintains an active basic science and clinical research program. Our research is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.

CHILDREN’S NATIONAL, DEPARTMENT OF GENETICS AND METABOLISMServing children for more than 140 years, Children’s National is a proven leader in developing and providing innovative new treatments for childhood illness and injury. Children’s National is the largest non-government provider of primary care in the District of Columbia, seeing more than 35,000 children through our health centers each year.

With more than 4,000 visits annually and 12 physicians, Children’s National Health System is now the largest clinical genetics program in the United States.Our division coordinates the multidisciplinary care of children with genetic and metabolic disorders or complex birth defects, within the division and in collaboration with primary care physicians and specialists from other divisions at Children’s National.

The division’s team of world-renowned medical experts, nutritionists, and genetic counselors care for your child’s physical needs, while our social workers, child-life specialists, and pastoral-care staff offer care for your child’s and your family’s emotional, spiritual, and mental health.Some conditions cared for include: genetic disorders of all types, inborn metabolism errors, abnormal newborn screening results, lysosomal storage disorders, metabolic disorders, neurofibromatosis, skeletal dysplasias, genetic testing interpretation, adult genetic conditions.

21st May 2015

Surviving longer with IMDs: what does adult-stage of pediatric onset disease look like? Kimberly Chapman, Washington DC

Welcome and introduction, Jerry Vockley and Marshall Summar

23rd May 2015Workshop: neuromuscular presentations Mark Korson, Boston, MA

Transplant and cellular therapy for adult IEM disease, George Mazariegos, Pittsburgh, PA

Pregnancy and IEMs, Robin Lachmann, London, United Kingdom

Drug development for rare diseases (How to think about new therapies and the process for approval), Emil Kakkis, Ultragenyx and Jonathan Goldsmith, FDA

Transitioning pediatric patients to the adult healthcare system and treatment of adult PKU, Sandra Sirrs, Vancouver, Canada

Pediatric diseases in adulthood (UCDs, OAs, AAs), Marshall Summar, Washington DC

Guidelines for managing IEMs in adults: do we need to modify them? Jerry Vockley, Pittsburgh, PA

22nd May 2015Pediatric and adult disorders of complex lipid synthesis, Jean-Marie Saudubray, Paris, France

A clinical approach to neurometabolic disorders in adult onset diseases, Andrea Gropman, Washington DC

Workshop: acute metabolic decompensation in adult patients, Areeg El-Gharbawy, Pittsburgh, PA

Psychiatric manifestations of IEMs, Lisa Pan, Pittsburgh, PA

LSDs in adulthood, Robin Lachmann, London, United Kingdom

The role of BMT in IEM, Paul Szabolcs, Pittsburgh, PA

Case discussion with expert panel from session

Stroke and vasculopathies, Fernando Scaglia, Houston, TX

Mitochondrial myopathies, Bruce Cohen, Akron, OH

Registration detailsParticipant profile: This course is aimed at both pediatric and adult metabolic specialists and trainees. The course is restricted to 50 participants plus faculty.

Fees:The course fees of $570 covers:• 2 nights bed and breakfast• Lunch, coffee and 2 dinners during the course

For 3 nights accommodation booked through us, a rate of $700 will apply (any additional meals at the participants’ charge).If no accommodation is needed, a local fee of $380 is granted (including the meals throughout the course).Participants are responsible for their own travel arrangements to and from the course.

Registration process and deadline: The registration form should be completed on-line and submitted with your curriculum vitae in English. No payment is required at this stage.Deadline for registration is 8th April 2015.

Selection criteria and review process: Candidates will be selected based on their background and experienceThe scientific organising committee will review the applications and select participants. Selection decisions will be announced within 15 days following the deadline for registration.

CME accreditation: An application will be made for CME accreditation.

Course organising committee: Kim Chapman Children’s National, Washington DC Andrea Gropman Children’s National, Washington DCAreeg El-Gharbawy Children’s Hospital of Pittsburgh, PAMark Korson Floating Hospital for Children, Boston, MAJean-Marie Saudubray Pitié Salpêtrière Hospital, Paris, FranceMarshall Summar Children’s National, Washington DCJerry Vockley Children’s Hospital of Pittsburgh, PA

Contact Recordati Rare Diseases Foundation:Cecilia Kellquist Recordati Rare Diseases fondation d’entreprise Tel: +33 1 47 73 86 11 email: ckellquist@rrd-foundation.org www.rrd-foundation.org

23rd May 2015

Other courses in 2015

Genetic congenital heart diseases7 - 9 OctoberRome, Italy

Neurotransmitter focus course9 - 10 NovemberSan Servolo Island, Venice, Italy

Advanced metabolic course: Controversies in management

11 - 13 MarchManchester, UK

24 - 26 JuneParis, France

Classification and diagnostic approach of IMD affecting the synthesis and remodeling of complex lipids

Contact Recordati Rare Diseases Foundation:

Cecilia Kellquist Recordati Rare Diseases fondation d’entreprise Immeuble ‘Le Wilson’ 70 avenue du Général de Gaulle 92800 Puteaux, France Tel: +33 1 47 73 86 11 Fax: +33 1 49 00 18 00 email: ckellquist@rrd-foundation.org

www.rrd-foundation.org