Sterol biosynthesis disorder
MONDO:0019240An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.
Also known as: inborn error of sterol biosynthetic process, inborn sterol biosynthetic process disorder, rare inborn error of sterol biosynthetic process
45 clinical trials for this condition and its sub-types, 0 tagged with Sterol biosynthesis disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Sterol biosynthesis disorder
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CHILD syndrome 37 trials
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Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types
3 sub-types
- Smith-Lemli-Opitz syndrome 6 trials
- Lathosterolosis 3 trials
- Desmosterolosis 2 trials
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Mevalonate kinase deficiency 3 trials · 4 incl. sub-types
2 sub-types
- Hyperimmunoglobulinemia D with periodic fever 2 trials
- Mevalonic aciduria 0 trials
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Greenberg dysplasia 2 trials
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2 sub-types
- X-linked chondrodysplasia punctata 2 1 trial
- X-linked chondrodysplasia punctata 1 0 trials
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MEND syndrome 0 trials
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Game on: mobile app helps kids with kidney disease take control
Disease control CompletedThis study tested whether a mobile game could help children aged 11-14 with chronic kidney failure better manage their condition. 68 children were split into two groups: one used the game, the other received standard education. Researchers measured changes in BMI, blood pressure,…
Sponsor: Akdeniz University • Aim: Disease control
Last updated Jun 26, 2026 15:16 UTC
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Can a single antibiotic dose cut child mortality in niger?
Prevention CompletedThis trial tests whether giving azithromycin—a common antibiotic—twice a year to young children in Niger can reduce deaths. It compares giving the drug to all children aged 1-59 months versus only to infants 1-11 months, who are at highest risk. The study also checks how these ap…
Phase 4 • Sponsor: University of California, San Francisco • Aim: Prevention
Last updated Aug 08, 2026 00:03 UTC
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Can a 12-Week exercise programme build strength safely in boys with hemophilia?
Symptom relief CompletedBoys with hemophilia often miss out on games and activities because of concerns about bleeding and joint damage. Researchers developed a 12-week muscle-strengthening exercise programme with input from children, parents, and physiotherapists. The DOLPHIN-II trial compares this pro…
Sponsor: East Kent Hospitals University NHS Foundation Trust • Aim: Symptom relief
Last updated Sep 12, 2026 00:00 UTC
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Custom masks could help kids breathe easier at night
Symptom relief CompletedThis study tests whether custom-made 3D-printed masks fit children better than standard commercial masks for non-invasive ventilation (NIV). Fifteen children aged 8-12 who already use NIV but have poor adherence will try a custom mask made from a 3D facial scan. Researchers will …
Sponsor: University of Alberta • Aim: Symptom relief
Last updated Sep 11, 2026 00:00 UTC
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Cartoon cure for diabetes fear? new study tests animated films on Kids' anxiety
Symptom relief CompletedThis study looks at whether watching an animated film or reading a storybook can lower fear and anxiety in children aged 7 to 12 who have just been diagnosed with type 1 diabetes. About 64 children will take part, and their anxiety levels will be measured using special child-frie…
Sponsor: Selverhan Yurttutan • Aim: Symptom relief
Last updated Aug 27, 2026 00:00 UTC
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Can muscle feedback or electrical stimulation help kids move better after brain tumor surgery?
Symptom relief CompletedThis study compared two therapies—myofeedback and neuromuscular electrical stimulation—to see which better improves arm and hand function in children aged 6 to 14 who have one-sided weakness (hemiplegia) after brain tumor surgery. Forty-five children participated, and researchers…
Sponsor: Cairo University • Aim: Symptom relief
Last updated Jun 27, 2026 12:38 UTC
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Fun and fitness: VR games may boost Kids' activity levels
Symptom relief CompletedThis study looked at whether aerobic exercise and virtual reality games could improve functional capacity, activity, and participation in children aged 6-10 living in care facilities. Sixty-three children were split into groups: one did aerobic exercise, one played VR games, and …
Sponsor: Hasan Kalyoncu University • Aim: Symptom relief
Last updated Jun 27, 2026 12:30 UTC
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Finger puppets and video games soothe Toddlers' fear during breathing treatments
Symptom relief CompletedThis study looked at whether using finger puppets, video games, or stress balls can help reduce fear and improve emotional behavior in children aged 4-6 who need inhaler therapy. 120 children participated, and researchers measured their fear levels, emotional responses, and paren…
Sponsor: Karamanoğlu Mehmetbey University • Aim: Symptom relief
Last updated Jun 27, 2026 09:10 UTC
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Can kids with allergies use nasal spray only when needed? new study investigates.
Symptom relief CompletedThis study looked at whether children with year-round allergic rhinitis can use a nasal steroid spray only when symptoms bother them, instead of every day. Sixty-eight children aged 6 to 18 were randomly assigned to either daily use or as-needed use of fluticasone furoate spray. …
Phase 3 • Sponsor: Mahidol University • Aim: Symptom relief
Last updated Jun 27, 2026 07:58 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Rare genetic disorder studied for clues to better care
Knowledge-focused CompletedThis study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Comic book teaches kids to beat pain fears
Knowledge-focused CompletedThis study tested a school program called SocLaLola that uses a comic book to teach children aged 8-11 about pain. The goal was to see if it improves kids' understanding of pain and reduces their fear of moving. Eighty-two students from two primary schools took part. The program …
Sponsor: Universitat de Lleida • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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New study aims to prevent breathing complications after kids' sleep apnea surgery
Knowledge-focused CompletedThis completed study tracked 132 children with obstructive sleep apnea who had their tonsils removed. Researchers recorded how many had breathing problems after surgery, especially those with other health issues. The goal was to create a simple flowchart to help doctors decide wh…
Sponsor: University Hospital, Antwerp • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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New app aims to heal hidden wounds after child injury
Knowledge-focused CompletedThis study tested a mobile health tool called CAARE to help children under 12 and their caregivers cope with emotional and behavioral challenges after a traumatic injury. Researchers measured changes in distress, PTSD symptoms, depression, and quality of life in 54 participants. …
Sponsor: Medical University of South Carolina • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists investigate metabolism in kids with rare genetic syndrome
Knowledge-focused CompletedThis study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC
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New tool aims to capture daily life with rare inflammatory diseases
Knowledge-focused CompletedThis study involved 39 adults and children with autoinflammatory diseases like FMF and Still's disease. Researchers conducted interviews to understand how these conditions affect quality of life. The goal was to create a tool that doctors can use to better assess and address pati…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC