Newborn Cystic Fibrosis (CF) Screening
The Boston Rheology Meconium Rheometer is a low
cost screening device. An abnormal reading would cause the physician
to conduct further blood screening to determine the cause of the
abnormal reading (most likely CF).
The CF screening rheometer is complete and awaits
510(k) (pre-market) approval for human use from the FDA, pending
the completion of clinical studies of the meconium of both "control"
and CF affected newborns.
The Problem
Cystic Fibrosis is the most common genetic disease
in the United States. It affects one out of 2,500 newborns within
the United States, with a mean survival age of 34. Cystic Fibrosis
is caused by a mutation of the delta f508 gene on the seventeenth
chromosome. Early Diagnosis and Early Intervention are critical
to enhancing the quality of life and to extending life in those
afflicted. Currently only newborns from families with a significant
history of the disease are tested at birth; although routine testing
for inherited diseases are increasing rapidly. On a scale of difficulty,
the test for CF is the most difficult. While CF symptoms begin
to manifest themselves as early as two years of age, CF is generally
not detected until around three and a half years of age.
The current blood tests are expensive and at best
are only 90% accurate. In many cases, further tests are required
to diagnose a specific genetic abnormality. It is staggering to
note that 75% of all CF victims have no prior family history of
the disease, and therefore receive no medical care until almost
four years of age, at which point irreversible damage has been
done to their long-term health and quality of life.
The Boston Rheology Meconium Rheometer screens
for CF at birth in the general population, instead of waiting
until a mean of 3.6 years of age as at present when a diagnosis
is made. The Rheometer measures the viscoelasticity (stickiness)
of the newborn's meconium (first bowel movement). A normal newborn's
meconium measures less than 40,000 centistokes, while an afflicted
newborn's meconium will measure more than 200,000 centistokes,
approximately 500% higher (more viscous). In addition, the meconium
of a CF carrier will be between 40,000 -- 60,000+ centistokes.
The Boston Rheology Meconium Rheometer is a screening device.
An abnormal reading would then direct a physician to order blood
tests to diagnose the cause of the abnormality, which is most
likely to be CF.
The Boston Rheology Meconium Rheometer is under
clinical investigation at the Eastern Virginia Medical School
Hospital and has Harvard Hospital’s IRB Approval. Early results
confirm readings of 10,000 - 30,000 centistokes for normal newborn
meconium. In a paper published in 1972 Dr. Schwachmann, a leading
CF specialist at the Boston's Children's Hospital, and Dr. Harold
Kosasky showed that an afflicted newborn's meconium was approximately
5 times more viscous than that of a healthy infant. The success
rate of the Boston Rheology Meconium Rheometer is close to 100%
accurate, excluding user error (3%). With close to 4 million births
each year in the United States, the Boston Rheology Meconium Rheometer
would help detect thousands of CF victims and carriers at birth,
presenting an invaluable opportunity to enhance and extend life,
and create awareness, to help lives yet to begin.
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Market Definition
There are 7.3 million and 4 million babies born
in Europe and the U.S., respectively each year. In a single year
in the United States 4,000 babies affected with CF are born. Within
the general population of the United States there are 10-12 million
people who carry the gene. It is general policy that CF is not
screened in newborns unless there is a family history of the disease.
And as mentioned above 75% of all CF patients have no prior family
history. Typically symptoms of the disease emmerge at approximately
3.6 years of age. By that time, damage to critical organs is already
underway and the anticipated lifespan of the child is already
negatively affected. It is generally accepted that if the disease
is detected at birth the quality and longevity of life will be
enhanced.
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