Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition where the body can’t make enough cholesterol properly. Researchers tested a new cholesterol emulsion—a special liquid mixture that dissolves better than older treatments—in six children with SLOS. The new treatment significantly increased healthy cholesterol levels and decreased harmful buildup in the body. Families reported being satisfied with the treatment, and children tolerated it well with few side effects. While this is a small study, the results suggest this new approach may work better than traditional cholesterol supplements for managing this serious genetic condition.

The Quick Take

  • What they studied: Whether a new type of cholesterol medicine (an emulsion) works better than regular cholesterol supplements for children with a rare genetic disorder called Smith-Lemli-Opitz syndrome
  • Who participated: Six children (ages 1-12 years old, mostly boys) with Smith-Lemli-Opitz syndrome who were already taking cholesterol supplements
  • Key finding: The new cholesterol emulsion increased healthy cholesterol levels by an average of 163% (ranging from 95% to 299% improvement) and reduced harmful cholesterol buildup by about 63% on average. Families reported satisfaction with the treatment and children had few side effects.
  • What it means for you: If you or a family member has SLOS, this new treatment option may work better than traditional cholesterol supplements. However, this is a very small study, so more research is needed before drawing firm conclusions. Talk to your doctor about whether this treatment might be appropriate.

The Research Details

This was a small observational study conducted at a single medical center. Researchers looked back at medical records of seven children with SLOS who switched from their regular cholesterol treatment to a new cholesterol emulsion (a specially formulated liquid mixture). The emulsion was designed to mix better and distribute more evenly than traditional oil-based or water-based cholesterol supplements, which can sometimes clump or settle unevenly. The researchers measured cholesterol levels in the blood before and after the switch, tracked growth measurements, and interviewed the parents or caregivers of five of the children to understand their experience with the new treatment. One child was excluded because they didn’t follow the treatment plan consistently, leaving six children in the final analysis.

This research approach matters because SLOS is so rare that large studies with hundreds of patients are difficult to conduct. By carefully documenting what happened with these six children and getting detailed feedback from their families, researchers can gather important real-world information about whether a new treatment actually helps. The combination of blood test results and family interviews provides both scientific data and practical insights about how the treatment affects daily life.

This study has some important limitations to understand: it’s very small (only six children), it doesn’t have a comparison group receiving the old treatment at the same time, and it’s from a single medical center. However, the researchers did measure objective blood tests (which are reliable) and also gathered subjective feedback from families. The fact that families were satisfied and side effects were minimal adds credibility to the positive findings. This type of small, detailed study is appropriate for rare diseases but should be viewed as promising preliminary evidence rather than definitive proof.

What the Results Show

The new cholesterol emulsion produced dramatic improvements in blood cholesterol levels. Before switching to the emulsion, the six children had an average total cholesterol level of 42 mg/dL (with a range from 29 to 52 mg/dL), which is very low. After using the new emulsion, cholesterol levels increased substantially—by at least 95% and as much as 299%, with an average increase of 163%. This means the emulsion helped the children’s bodies maintain healthier cholesterol levels. Additionally, the harmful buildup of 7-dehydrocholesterol (a substance that accumulates in SLOS) decreased significantly, dropping by an average of 63% (ranging from 28% to 96% reduction). These improvements in blood chemistry suggest the new emulsion is more effective at delivering cholesterol to the body than previous treatments.

The study measured other important health markers including HDL (good cholesterol), LDL (bad cholesterol), vitamin D levels, height, and weight. The researchers found no significant changes in the children’s growth measurements (height and weight), which is important because it shows the treatment didn’t negatively affect normal development. When researchers interviewed five families about their experience, they reported overall satisfaction with the medical care and described the effects of the emulsion as predominantly successful. Importantly, the new treatment was well-tolerated with very few side effects, which is crucial for a medication that children need to take regularly.

Traditional cholesterol supplements for SLOS come in oil-based or water-based forms, but these have a significant problem: cholesterol doesn’t dissolve evenly in these liquids. This means the medicine can separate, clump, or settle unevenly, making it difficult to give consistent doses. The new emulsion technology solves this problem by creating a stable mixture where cholesterol particles stay evenly distributed. The dramatic improvements in cholesterol levels (163% average increase) and 7-dehydrocholesterol reduction (63% average decrease) suggest this new formulation works substantially better than the older approaches at actually getting cholesterol into the children’s bodies where it’s needed.

This study is small—only six children—so the results may not apply to all children with SLOS. The study didn’t include a control group receiving the old treatment at the same time, so we can’t be completely certain the improvements came from the new emulsion rather than other factors. The study was conducted at one medical center, so results might differ in other locations or populations. One child was excluded for not following the treatment plan, which could affect the results. The study also didn’t track how long the benefits lasted or whether they continued over many months or years. Finally, because SLOS is so rare, these results may not generalize to all patients with this condition.

The Bottom Line

If you have a child with Smith-Lemli-Opitz syndrome currently taking cholesterol supplements, discuss with your doctor whether switching to this new cholesterol emulsion might be beneficial. The evidence suggests it may provide better cholesterol level control and improved tolerability compared to traditional supplements. However, because this is a small preliminary study, your doctor should monitor blood cholesterol levels carefully after any treatment change. Confidence level: Moderate—the results are promising but based on a small number of patients.

This research is most relevant to families with children diagnosed with Smith-Lemli-Opitz syndrome who are currently taking cholesterol supplements. It may also interest healthcare providers who specialize in rare genetic disorders and metabolic conditions. People without SLOS should not use this treatment, as it’s specifically designed for this rare genetic condition. If you suspect your child might have SLOS (signs include intellectual disability, distinctive facial features, and behavioral issues), consult a genetic specialist.

Based on this study, improvements in blood cholesterol levels appeared relatively quickly after switching to the new emulsion, though the exact timeline isn’t specified. Most families reported satisfaction with the treatment, suggesting benefits may be noticeable within weeks to months. However, long-term benefits and whether improvements continue over years remain unknown and would require longer follow-up studies.

Want to Apply This Research?

  • Track weekly cholesterol levels (if home testing is available) or record dates of blood test appointments and results. Create a simple chart showing total cholesterol and 7-DHC levels over time to visualize progress and share with your healthcare provider.
  • Set daily reminders for cholesterol emulsion administration at the same time each day to ensure consistent dosing. Use the app to log any side effects or behavioral changes observed after starting the new treatment, which can help your doctor assess effectiveness.
  • Establish a long-term tracking system that records cholesterol levels at each doctor visit, tracks growth measurements (height and weight) monthly, monitors for any side effects or tolerability issues, and documents family satisfaction with the treatment. Create a summary report every 3-6 months to discuss with your healthcare team.

This research describes a new treatment for Smith-Lemli-Opitz syndrome, a rare genetic disorder. The study involved only six children, so results are preliminary. Do not start, stop, or change any treatment for SLOS without consulting your child’s doctor or genetic specialist. This information is educational and should not replace professional medical advice. If your child has SLOS or you suspect they might, work with a qualified healthcare provider who specializes in rare genetic and metabolic disorders to determine the most appropriate treatment plan.