1 / 20

Overview

Overview. G1D summary – 2013. Outline. Description of Glut 1 Deficiency (G1D) Prevalence Diagnosis Treatment Genetics Social adaptive behavior Education, awareness and advocacy Glut1 Deficiency Foundation Mission. What is Glut1 Deficiency?.

boone
Download Presentation

Overview

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Overview

  2. G1D summary – 2013

  3. Outline • Description of Glut 1 Deficiency (G1D) • Prevalence • Diagnosis • Treatment • Genetics • Social adaptive behavior • Education, awareness and advocacy • Glut1 Deficiency Foundation Mission

  4. What is Glut1 Deficiency? • G1D is a rarely diagnosed metabolic condition where • glucose isn’t transported properly across the blood brain • barrier, starving the brain of energy it needs to grow and • function as it should. • It is caused by a mutation on the first chromosome of the • SLC2A1 gene. • Symptoms may include seizures, movement disorders, speech • and language disorders, developmental delays, confusion, • and headaches - all of varying degrees of severity. • G1D cases worldwide currently number around 500, although • experts believe there are many more. It affects gender and • ethnic groups equally. Average age of diagnosis is between 5 and 6 • years old.

  5. Description • Classic phenotype • Infantile onset seizures • Delayed neurological development • Complex movement disorders

  6. How is G1D diagnosed? • G1D can be diagnosed through a lumbar puncture • showing low CSF glucose, and also a low CSF glucose • to blood glucose ratio. CSF lactate levels are often low. • Genetic testing can often reveal a mutation in the • SLC2A1 gene, although it misses an estimated 10-15% • of cases. • A red blood cell assay test is also highly effective at • diagnosing G1D, but currently is only available on a • research basis.

  7. How is G1D treated? • The current standard of care treatment is a ketogenic diet, • which provides an alternate form of energy for the • brain. It helps improve symptoms in most patients. • Medications are generally not very effective at treating the • symptoms, although single add-on drugs can sometimes • help boost symptom control. • Investigations are currently underway for the use of • triheptanoin(c7 oil) as an alternative treatment. • Symptoms generally improve somewhat in adulthood as brain • energy demands stabilize, however patients continue to be • affected throughout their life span.

  8. Why the ketogenic diet for G1D? • Highly effective for: • Seizure control • Controlling movement disorders • Promoting alertness and activity • Works by transport of ketone bodies to the brain • Ketone bodies are generated in the liver • Ketones are an alternative fuel for metabolism in the brain • Benefits are best when the diet is started early in childhood

  9. Triheptanoin-an alternative treatment for G1D? • Triheptanoin (C7) is a synthetic triglyceride oil under investigation by Dr. Pascual’s laboratory • Administered as a dietary supplement • Produces ketone bodies as an alternative energy source for the brain (like the ketogenic diet) • Also thought to promote the TCA cycle, providing an additional energy source • Results of preliminary studies encouraging • Currently only available as part of a regulated clinical study • Future availability: Drug? Medical Food? Supplement?

  10. Genetics of G1D • Most cases are caused by mutation at conception • Inherited disease is possible but rare • There is a 50% chance of passing disease to offspring • Disease severity in offspring can’t be predicted. • Best to determine genetic risk prior to pregnancy • Genetic counseling should be offered to young adults • Who are affected by G1D • Who are at risk (e.g., siblings)

  11. Social adaptive behavior • An exceptional strength observed for G1D individuals • They are compatible in a group, and in school • They interact well with others • Autistic spectrum disorders appear under-represented

  12. Our Mission The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to: • Educating others about Glut1 Deficiency by creating a forum for sharing support, experiences, resources, and information between patients, families, and healthcare professionals. • Increasing awareness of and advocacy for Glut1 Deficiency. • Supporting and funding researchers as they work for better treatments and an ultimate cure. mission drives all foundation activities

  13. Foundation History • Yahoo Groups – Founded June 2004 • Initial Family Conference: Chicago July 2009 • Initial Organization discussion: Louisville Conference • July 2010 • Glut1 Deficiency Foundation: 501(c)3 Status July 2011 • Medical Advisory Board seated January 2013 2 Years and Gaining Momentum

  14. Founding Board of Directors and Officers Glenna Steele – President (Kentucky) Lloyd Holleman – Vice President (Indiana) Greg Stoddard – Secretary (Indiana) Jen Lazar – Treasurer (Texas) Keri Meyers – Assistant Director (Louisiana) along with several committees and volunteers all are parents of Glut1 Deficiency patients

  15. Medical Advisory Board Members Dr. Darryl De Vivo - Columbia University Medical Center Kris Engelstad - Columbia University Medical Center Dr. Jörg Klepper - Children’s Hospital Aschaffenburg (Germany) Dr. Eric Kossoff - John’s Hopkins Hospital Dr. Juan Pascual - University of Texas Southwestern Medical Center

  16. Key Mission Projects • Education, Awareness, and Advocacy • brochure program • website enhancements, translations • Yahoo, Rare Connect online communities • professional conference exhibits • congressional meetings • family conferences • partnership with Matthew’s Friends • collaborations with other international groups • Grand Rounds • quarterly newsletters

  17. Key Mission Projects Funding Research • Provided funding toward c7 oil studies at UTSW ($25,000) • Helped fund grant writer/research coordinator position at • UTSW ($30,000) • Helped fund Natural History Study at Columbia ($15,000) • Provided funding toward Patient Registry development at • UTSW ($20,000) • Funded research data gathering opportunities at our family • conferences ($10,000) • Next round of awards by end of year, have important and • worthy proposals to consider ($55-60,000)

  18. Fundraising Success • annual online campaign kicks off • on Valentine’s Day and runs through • Rare Disease Day • -last year 34 families from 7 countries • individual family fundraising events to benefit the Foundation • - varied concepts and locations • individual donations and corporate matches • GoodSearch/GoodShop/GoodDining • all volunteer, so all funds go directly to our mission

  19. Upcoming Projects • Education, Awareness, and Advocacy • translate G1D Brochure into additional languages • create a Frequently Asked Questions (FAQ’s) for G1D • compile list of knowledgeable G1D practitioners • create simple screening tool for practitioners • facilitate a Standard of Care with professionals • continue to Exhibit at Key Professional Conferences • strengthen relationship with Global Glut1 community • become a member of NORD • plans for next family conference • Funding Research: • support launch and upkeep of patient registry at UTSW • fund new research projects in 2013 – proposals currently under review

  20. thank you! and please join us...

More Related