PDHX-related neonatal case report

6 evidence topics · 1 source

Objective

Location and study date

No evidence found.

Study design

Case-report design

“the case of a neonate” (opens the source at this quote in a new tab)

Eligibility criteria

Molecular diagnosis

“a homozygous deep intronic pathogenic variant” (opens the source at this quote in a new tab)

Treatment

Study outcomes

Rationale for using blood lactate as a biochemical outcome

Not applicable.

Statistical analysis description

Number of participants (Planned and analyzed)

Reported participant

“a neonate” (opens the source at this quote in a new tab)

Description of analysis sets

Not applicable.

Results

Participant disposition

No evidence found.

Baseline characteristics

Neonatal presentation

“severe lactic acidosis on the second day of life” (opens the source at this quote in a new tab)

Efficacy results

Emergency investigational treatment and clinical response

“The patient was started on dichloroacetate as an emergency investigational new drug (eIND), with a sharp decline in lactic acid levels and clinical stabilization.” (opens the source at this quote in a new tab)

Health-related quality of life and patient-reported outcomes

No evidence found.

Safety results

No evidence found.

Study limitations

Summary

The evidence concerns one critically ill neonate with PDHX-related disease. The temporal association between emergency investigational treatment, reduced lactic acid, and stabilization is not a controlled estimate of efficacy. A single case cannot establish comparative benefit, durability, or the frequency of adverse effects.