Neonatal pyruvate dehydrogenase deficiency with lipoate-responsive lactic acidaemia
5 evidence topics · 1 source
Objective
Location and study date
No evidence found.
Study design
Eligibility criteria
No evidence found.
Treatment
Acute treatment modalities
Study outcomes
Rationale for using blood lactate as a biochemical outcome
Not applicable.
Statistical analysis description
Number of participants (Planned and analyzed)
Description of analysis sets
Not applicable.
Results
Participant disposition
Baseline characteristics
Age and sex at presentation
Efficacy results
Lactate response attributed to lipoic acid
Health-related quality of life and patient-reported outcomes
No evidence found.
Safety results
No evidence found.
Study limitations
Summary
The participant received multiple treatment modalities, and the reported lactate response was attributed to lipoic acid rather than isolated dichloroacetate exposure. Death at 1 year 8 months and the absence of a comparator prevent interpreting biochemical improvement as a demonstrated survival benefit.