GlobalResearch and clinical trials
Enzyme therapy in infant-onset LAL deficiency: 27 of 29 babies in the registry are alive
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied. All had received a treatment that replaces the missing enzyme. Treatment had started at a median age of 2.3 months. At a median follow-up of 6.2 years, 27 of the 29 babies were alive. Side effects were generally not severe.
What does it mean for patients and families?
If untreated, this severe type usually leads to death in the first months. That is why early diagnosis and treatment are very important. Access in Türkiye depends on TİTCK (Turkish Medicines and Medical Devices Agency) and SGK (Social Security Institution) processes.
Source
Scientific paper: Survival, growth, and safety findings in patients with rapidly progressive, infantile-onset LAL-D: Results from the international LAL-D registry. Molecular Genetics and Metabolism, 2025. DOI: 10.1016/j.ymgme.2025.109290 · PubMed 41270440
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Lysosomal acid lipase deficiency (LAL-D)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.