Update NORD/Barckett Tyrosinemia Research Fund (Updated 2/2003)
The Physicians Guide to Tyrosinemia was also created and distributed through this fund.
When the minimum of $35,000 is in the fund, NORD sends out a proposal to people who woulde be interested in doing research. Believe it or not, not many people were interested. A two-year grant is $70,000. This is what
these people got (see below). It was given approximately last August.
NTBC Treatment of Hepatorental Tyrosinemia; Evaluation of Metabolic Control and Surveillance for Neuropsychological Effects
Grant A. Mitchell, M.D.
Hospital Sainte-Justine, Montreal, Quebec
Discussion:
Hepatorenal tyrosinemia (HT1) is an inborn error of metabolism characterized by elevated levels of amino acid tyrosine and its metabolites in the urine. It may cause developmental delay, liver dysfunction, kidney problems, and liver cell cancer. Recently, medical treatment of HT1 has been revolutionized by NTBC, a protein-inhibiting drug, which has clearly been shown to be the short-and medium-term treatment of choice. However, additional study is needed of the safety and effectiveness of lifelong NTBC therapy. This study will examine whether complete metabolic control is obtainable with NTBC, what the optimal dosage may be, and whether there may be significant side effects. In particular, the research team will explore the hypothesis that biochemical changes that accompany NTBC treatment may have undesired psychological effects.
