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Interim Status Report on Rider 58

Austin, TX

TO:   Members of the 77th Legislature

FROM:  Charles E. Bell, M.D., Executive Deputy Commissioner

DATE:  January 5, 2001

SUBJECT:  Interim Status Report on Rider 58, PKU Low Protein Medical Food Pilot

Rider 58
According to Rider 58 from the 76th Legislature, General Appropriations Act 2000-2001 Biennium, the Department of Health shall allocate $150,000 in fiscal year 2000 and $150,000 in fiscal year 2001 for the purpose of conducting a pilot project to assess the cost and effectiveness of providing medically indicated medical foods to children ages 0 to 5 affected with phenylketonuria (PKU). Upon completion of the pilot project, the department shall make a recommendation to the 77th Legislature on the program's effectiveness. However, due to delays in enrolled PKU children in the pilot study, an interim report will be presented to the 77th Legislature. Upon completion of the pilot, a full report will be available.

PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately 1 of every 35,200 infants in Texas is born with PKU, which is the result of a deficiency of a liver enzyme. This enzyme deficiency leads to elevated levels of the amino acid, phenylalanine (PHE), in the bloodstream.

The current treatment for this disorder involves adherence to a medical diet. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains PHE. Not following the diet carefully can result in a decline in mental and behavioral performance.

The required diet for the treatment of PKU is very restrictive. The diet consists of special formulas, similar to infant formulas, which provide every nutrient except PHE, supplemented with very small amounts of table foods and larger amounts of medical foods. All three of these components are calculated specifically for the person with PKU and must be carefully measured by the person with PKU or their family to achieve control of their PHE levels and thus optimize their development. The PKU formulas provide 50 to 80 percent of all nutrient needs for an individual beyond infancy. The medical foods are low protein substitutes for flour, pasta, baked goods, eggs and cheese. These medical foods appear just like normal foods one may find on a supermarket shelf, but have a very low PHE content.

These special medical foods:

  • Should only be used under medical supervision;
  • Are not available in grocery stores, pharmacies, health food stores. They must be special ordered from specialized distributors;
  • Cannot be purchased with food stamps; and
  • Are more expensive than standard food counterparts (a one pound package of low protein spaghetti costs $8.25 plus shipping while a pound of regular spaghetti costs $.99 - $1.25 at a grocery store).
  • Even though they are a very important component of the medical treatment of PKU, health insurance and Medicaid do not cover the cost of these medical foods in Texas.

    Description of Pilot Program

    Participants: Approximately 40 children, aged 0-5, have been asked to participate in this 2 year pilot program from two metabolic centers - University of Texas Health Science Center (UTHSC) in San Antonio and University of Texas Southwestern Medical Center (UTSW) in Dallas. [Fifteen children in San Antonio and twenty-five children in Dallas.]

  • Data Collection: Participants are seen quarterly for medical food ordering and data collection. During visits, the following information is recorded:
    1. Families are asked to report on which medical foods the child is consuming, and how often they are consuming each type of medical food. Any comments they may have on the medical foods are also recorded. A medical food order form is completed under the guidance of the metabolic nutritionist. The medical foods are to be shipped directly to the family.
    2. Physical measurements (height, weight, and head circumference), taken as part of the clinic routine, are recorded.
    3. All blood PHE levels taken since the last visit are recorded.
  • Psychological Testing: During the two-year pilot period, a licensed psychologist performs two psychological evaluations on each patient. An initial evaluation is performed upon entry into the pilot and a final evaluation is performed upon exit from the pilot. Each evaluation consists of a combination of 2 out of 3 possible tests, depending on age (Bayley Scales of Infant Development, Differential Abilities Scale, and Vineland Aptitude Test). At the end of the study, an analysis between pre- and post-test results will be done to assess changes in mental development. We expect to demonstrate that, with the consumption of the low protein medical foods and proper diet management, blood PHE levels will be within the established treatment range for control of PKU, and growth and mental development will be maintained.
  • Control Data: Surveys are being sent to other metabolic centers in Texas who see patients with PKU of all ages. We are attempting to collect similar information about growth and PHE levels in PKU patients from these institutions in order to compare with our pilot findings.

    To begin this study, approval was needed from the Institutional Review Board (IRB) at each facility that this research would treat humans in an ethical manner. IRBs from TDH, UTHSC at San Antonio, Santa Rosa Health Center, and UTSW have reviewed and approved the study protocol. TDH then entered into contract with these institutions to fund this project. Additionally, after a competitive bidding process, TDH awarded a contract to a medical food vendor (MEDCO) to provide the low protein medical foods to participating families. Enrollment of children in San Antonio began in February 2000. As of November 2000, a total of 15 children have been enrolled in San Antonio (of which, one has dropped out), and all children have been consuming medical foods and reporting data since their enrollment. All of these children have also participated in psychological testing with mental and motor scores ranging from 77 to 115, excluding one child with significant complications during the perinatal period. (The "average" or "normal" range for both mental and motor abilities is between 85-115.)

  • UTSW did not begin enrolling children in this pilot program until November 2000. They now have 23 enrolled in the project. This has delayed the completion of the project until the end of 2002.

    Since PKU is a rare metabolic disorder, there are very few PKU patients in Texas other than those being treated at UTSW and UTHSC in San Antonio. Only 3 other institutions in Texas are seeing at least 5 patients within this study's age range: UTHSC in Houston, Baylor College of Medicine, and the Genetics Institute of Austin.

    To ensure that sufficient data is collected for an analysis of the effects that these medical foods have on the outcome of PKU, TDH is setting up contracts with the three institutions above to enroll additional patients. All of these institutions have expressed interest in this study and anticipate enrolling approximately 5 patients per institution. We hope to begin data collection at these sites by December 2000.


    • Continue pilot study until December 2002. (Participation for all enrollees will still be limited to two years, regardless of date of entry into the project.)
  • Expand pilot project to include 40 additional participants between the ages of 6-10. Cost estimate for this expansion is as follows:
  • FY2001 - $113,000
  • FY2002 - $96,000
  • FY2003 - $36,000
  • (The costs above include expenses for data collection, food supplements and psychological testing, but they do not include the salary cost of 0.55 FTE needed to manage this project.)

    The families are introducing the new medical foods to their children with PKU with varying success, as diet changes progress slowly for children within this age range and preferences of small children vary tremendously on a daily basis. Because of this, specific trends in blood PHE levels and growth are not clear at this time. Trends may be better determined when we have more data on a larger set of subjects over a longer time period. We feel that this study will benefit by inviting the older age group (6-10 year olds) to participate because their food preferences and eating habits are more stable. However, children of these ages may be less accepting of eating foods because of pre-established eating patterns.

    Last updated March 8, 2021