Research relating to ALD carried out in Korea. Each entry links to the original publication and shows its current status.
Status END — concluded. Ongoing — currently active.
Gene editing
CRISPR/Cas9 correction of ALD patient-derived iPSCs END
Cells from a patient with ALD were reprogrammed into induced pluripotent stem cells, and the ABCD1 variant c.1534G>A was corrected by homology-directed repair using CRISPR/Cas9 with a single-stranded oligodeoxynucleotide donor. Normal ALD protein (ALDP) expression was restored after correction.
- bioRxiv, 2020
- → Read the paper
In vivo gene editing via homology-independent targeted integration END
Two strategies — base editing and homology-independent targeted integration (HITI) — were applied in patient-derived fibroblasts, followed by in vivo HITI-mediated editing in ALD model mice using intravenously administered AAV9.
Treated mice showed significantly increased ABCD1 mRNA and reduced plasma C24:0-LysoPC and C26:0-LysoPC, the diagnostic markers of ALD.
- Molecular Therapy 2022;30(1):119–129
- → Full text (open access) · DOI
In vivo adenine base editing in a humanised mouse model END
Adenine base editing was used to correct the variant in a humanised mouse model carrying the human ABCD1 gene. Base editing changes a single base without cutting DNA, so it does not carry the insertional risk associated with integrating vectors.
Clinical guidance and materials
X-linked adrenoleukodystrophy: recent advances in classification, diagnosis and management END
A review written in Korean. It covers the natural history and phenotypes (cerebral ALD, adrenomyeloneuropathy, Addison-only, women with ALD), diagnosis (very long chain fatty acids, genetic testing, imaging, newborn screening, adrenal function testing), and treatment strategies.
The medical content of this site is built on this review, updated with subsequently published research and the 2022 international consensus recommendations.
- Journal of the Korean Child Neurology Society 2016;24(3):71–83
- Funded by the Korea Health Industry Development Institute, Ministry of Health and Welfare (HI14C1588, HI15C1601)
Dietary management in adrenoleukodystrophy END
The first dietary and cooking guide for ALD patients published in Korea. It covers nutritional principles, permitted / caution / restricted foods by food group, how Lorenzo’s oil is taken, management of swallowing difficulty, and 31 recipes developed on low-fat principles.
- Dietary content researched and written by Eunju Lee, dietitian
- With the support of Songmi Lee and Jinsu Kim, Nutrition Team, Severance Hospital
- Reviewed with preface by Hoon-Chul Kang, MD, PhD, Division of Pediatric Neurology, Severance Children’s Hospital, Yonsei University College of Medicine
- → Diet page
Patient survey
Korean ALD patient survey END
A survey of Korean ALD patients and caregivers covering phenotype distribution, current status and Lorenzo’s oil use. It remains very nearly the only numerical description of the Korean ALD patient population in existence.
Because the data are from 2016, only aggregate counts that cannot identify individuals are published.
- 49 responses in total, almost all collected in 2016
- → Survey results
Where things stand
The studies above have all concluded. There is currently no active ALD research in Korea.
New work will be added here marked Ongoing.
Trials running internationally are listed separately. → Clinical Trials
For research enquiries, please use the contact page.
Last reviewed: 7 August 2026