Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

[phenylketonuria]

For pregnant women with phenylketonuria (PKU ), maintaining blood phenylalanine (Phe )<360 μmol /L is critical due to the toxicity of elevated Phe to the fetus . Sapropterin dihydrochloride (sapropterin ) lowers blood Phe in tetrahydrobiopterin (BH 4 ) responsive patients with PKU , in conjunction with a Phe-restricted diet , but clinical evidence supporting its use during pregnancy is limited . As of June 3 , 2013 , the Maternal Phenylketonuria Observational Program (PKU MOMS ) sub-registry contained data from 21 pregnancies - in women with PKU who were treated with sapropterin either before (N =5 ) or during (N =16 ) pregnancy . Excluding data for spontaneous abortions (N =4 ), the data show that the mean of median blood Phe [204 .7 ±126 .6 μmol /L (n =14 )] for women exposed to sapropterin during pregnancy was 23 % lower , and had a 58 % smaller standard deviation , compared to blood Phe [267 .4 ±300 .7 μmol /L (n =3 )] for women exposed to sapropterin prior to pregnancy . Women on sapropterin during pregnancy experienced fewer blood Phe values above the recommended 360 μmol /L threshold . When median blood Phe concentration was <360 μmol /L throughout pregnancy , 75 % (12 /16 ) of pregnancy outcomes were normal compared to 40 % (2 /5 ) when median blood Phe was >360 μmol /L . Severe adverse events identified by the investigators as possibly related to sapropterin use were premature labor (N =1 ) and spontaneous abortion (N =1 ) for the women and hypophagia for the offspring [premature birth (35 w 4 d ), N =1 ]. One congenital malformation (cleft palate ) of unknown etiology was reported as unrelated to sapropterin . Although there is limited information regarding the use of sapropterin during pregnancy , these sub-registry data show that sapropterin was generally well-tolerated and its use during pregnancy was associated with lower mean blood Phe . Because the teratogenicity of elevated maternal blood Phe is without question , sapropterin should be considered as a treatment option in pregnant women with PKU who can not achieve recommended ranges of blood Phe with dietary therapy alone .

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Diseases presenting "but clinical evidence supporting its use during pregnancy is limited" symptom

phenylketonuria

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