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