Below is a research summary we produced regarding an article which explored newborn screening for ALD in Taiwan. The study demonstrated a high success rate in diagnosing ALD in infantile patients which allowed for the treatment, a bone marrow transplant, to be implemented early to provide patients with the best long-term outcome.
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
A study was conducted in Taiwan to demonstrate the efficacy and necessity of newborn screening for early implementation of treatment for Adrenoleukodystrophy (ALD). Currently, the treatment for ALD is to undergo a bone marrow transplantation. The treatment is most effective when it is implemented as soon as abnormalities within the brain appear. The study was performed at three different tiers. The first tier screened 181,342 newborns within clinics and hospitals. Those who presented within a certain threshold of a specific biomarker were screened a second time. A biomarker is a substance that can indicate the presence of a disease. If the cohort part of the second screening presented with certain levels of the targeted biomarker, they were then sent for a third confirmatory screening where the mutation of the ABCD1 gene was categorised. Newborns part of this third cohort were categorised based on three criteria: 1) If the mutation of the ABCD1 gene was disease-causing, 2) If the mutation of the ABCD1 gene may likely cause disease or 3) If the significance of the mutation of the ABCD1 could not be determined. Implementation of newborn screening has demonstrated a high success rate in diagnosing ALD in infantile patients in Taiwan. The results from the study correlated with the statistics in other U.S studies as well. With newborn screening, treatment with a bone marrow transplant can be implemented early to provide patients with the best long-term outcome.