UMDF Research Expansion Project
Announcement - 01/13/01
5-Year Plan
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Bruce Cohen, M.D.
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Stan Davis
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John DiCecco
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Chuck Hoppel, M.D.
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Keshav Singh, Ph.D.
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Rene Vladutiu, Ph.D.
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David Whiteman, M.D.
Do you have a question about the REP?
Just ask!
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2002 Activities
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|
Description |
Outcome |
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Expand the current grant program in light of the Research Expansion Program
goals. |
Increased grant funding allows us to add flexibility to the grant program. |
|
Convene epidemiology workshop with epidemiologists and mitochondrial
specialists. |
Develop the structure of the proposed epidemiology study. Enhance current
patient registry to facilitate gathering epidemiologic data. |
|
Gather death certificate data from various states and examine them for possible
mitochondrial disorders. |
The lack of disease codes for mitochondrial disease inhibits the determination
of how prevalent it is. Studying MICAR death certificate information may
help us gain a basic understanding of the prevalence of mitochondrial disease. |
|
Create a status report detailing the extent of mitochondrial disease research. |
Annual report to aid the UMDF in determining where grant funds should be
focused. |
|
A mitochondrial standards workshop is scheduled to meet in June in Dallas during
the UMDF 2002 symposium. The workshop will be made up of mitochondrial
specialists who will work toward standards in mitochondrial diagnostics. |
Discuss the development of a Sample Exchange Program and the ultimate
publication lf a consensus document on laboratory methods. |
|
Support the first multi-centered clinical trial (see Christini study) by
gathering names of those interested in participating in the study. |
Goal of the study is to determine the usefulness of uridine as a treatment for
mitochondrial disease. |
During the 2001 Mitochondrial Disease Conference, the UMDF asked families to
complete a questionnaire regarding the symptoms and problems they would most
like to see treated. You can view the results in graphic format.
The symptom list was taken directly from the UMDF Patient Registry and included
the top 20 reported symptoms as listed below.
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Symptom List
(Top 20 Symptoms from the UMDF Patient Registry)
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Developmental delay
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Fatigue
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Balance problems
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Hypotonia
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Exercise intolerance
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Seizures
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Mobility - delayed
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Lactic acidosis
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Lactate - elevated
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Speech - delayed
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Lethargy
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Constipation
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Wheelchair - needs assistance
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Gait - abnormal
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Gastroesophageal reflux
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Failure to thrive
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MRI/CT - abnormal
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EEG - abnormal
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Ataxia
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Muscle cramps
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