On DTX301 gene therapy for ornithine transcarbamylase deficiency
, Raymond thinks it "is a dosing matter" and awaits to see if a higher dose can in fact elicit more responses.
We previously used similar co-PCR procedures in melt profiling tests to better resolve sequence variation in hemizygous males with X-linked ornithine transcarbamylase deficiency
and to resolve homozygous mutations in phenylalanine hydroxylase deficient phenylketonuria (18, 19).
Ultragenyx Pharmaceutical announced positive longer-term safety and efficacy data from the first dose cohort of the Phase 1/2 study of DTX301, an investigational adeno-associated virus gene therapy for the treatment of ornithine transcarbamylase deficiency
. The 52-week study is designed to enroll patients with late-onset disease who are clinically stable and on a stable dose of alternate pathway medication.
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
. Pediatrics 2002;109:150-2.
All three patients with an ornithine transcarbamylase deficiency
had highly increased concentrations of uracil.
New research suggests that low concentrations of citrulline are observed in infants affected with carbamoyl phosphate synthase deficiency and perhaps ornithine transcarbamylase deficiency
. However, it is our experience that the potential false-positive and -negative rates for detecting carbamoyl phosphate synthase or ornithine transcarbamylase deficiencies are high with MS/MS and may limit its usefulness.