Smith-Lemli-Opitz Syndrome

What role do statins have as a potential therapy for Smith-Lemli-Opitz syndrome?

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Although there is some promise in using statins as a potential therapy for Smith-Lemli-Opitz syndrome (SLOS), there is currently insufficient evidence to support their widespread use, according to a study.

The research conducted so far is limited and comes with significant uncertainties, particularly regarding survival, quality of life, neurobehavioral outcomes, and potential adverse reactions associated with statin therapy.

The review, encompassing 6 studies involving 61 participants with SLOS, included 1 randomized controlled trial (RCT) and 5 non-randomized studies of interventions (NRSIs).

The results, while promising, come with important caveats. The RCT exhibited a high risk of bias, primarily due to missing data and selective reporting. Similarly, all NRSIs showed a serious or critical overall risk of bias. None of the studies evaluated survival or reported on the quality of life of individuals with SLOS.

Regarding neurobehavioral manifestations, the evidence remains inconclusive, with the RCT suggesting uncertain benefits from statin therapy. Adverse events, possibly related to statin therapy, were observed in the NRSIs. Additionally, the impact of statins on growth parameters, as well as on plasma and cerebrospinal fluid biomarker levels, remains uncertain and requires further investigation.

The authors conclude that, presently, there is insufficient evidence to support the widespread use of statins in individuals with SLOS, particularly concerning survival, quality of life, and neurobehavioral outcomes. Moreover, there are concerns about potential adverse reactions associated with statin therapy.

Ballout RA, Livinski A, Fu YP, et al. Statins for Smith-Lemli-Opitz syndrome. Cochrane Database Syst Rev. 2022;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961; PMCID: PMC9661876.