Transcript Glut1-Deficiency-Overview-Power

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?
• 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
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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.
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Genetic testing can often reveal a mutation in the
SLC2A1 gene, although it misses an estimated 10-15%
of cases.
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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?
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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.
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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.
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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
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Benefits are best when the diet is started early in childhood
Triheptanoin-an alternative
treatment for G1D?
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Triheptanoin (C7) is a synthetic triglyceride oil under
investigation by Dr. Pascual’s laboratory
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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
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Results of preliminary studies encouraging
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Currently only available as part of a regulated clinical study
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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
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An exceptional strength observed for G1D individuals
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They are compatible in a group, and in school
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They interact well with others
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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
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individual family fundraising events to benefit the Foundation
- varied concepts and locations
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individual donations and corporate matches
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GoodSearch/GoodShop/GoodDining
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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
thank you!
and please join us...