RecruitingNCT02435940
Metabolic
Abetalipoproteinemia
Also known as Bassen-Kornzweig syndrome, MTP deficiency, microsomal triglyceride transfer protein deficiency
Abetalipoproteinemia is caused by mutations in the MTTP gene encoding microsomal triglyceride transfer protein, which is essential for assembling apolipoprotein B-containing lipoproteins. This leads to near-zero plasma levels of LDL, VLDL,
ORPHA:14 ↗Gene MTTPPrevalence 1-9 per 1,000,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
5
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
6 May 2015
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Abetalipoproteinemia
Abetalipoproteinemia is caused by mutations in the MTTP gene encoding microsomal triglyceride transfer protein, which is essential for assembling apolipoprotein B-containing lipoproteins. This leads to near-zero plasma levels of LDL, VLDL, and chylomicrons, and severe malabsorption of fat-soluble vitamins. Clinical features include fat malabsorption, progressive spinocerebellar ataxia (due to vitamin E deficiency), retinitis pigmentosa, and acanthocytosis.
Common clinical features
Fat malabsorption and steatorrheaFailure to thriveAcanthocytosisSpinocerebellar ataxiaRetinitis pigmentosaVitamin E deficiencyPeripheral neuropathy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Abetalipoproteinemia. Not eligibility rules; those are set by each study.
- Plasma cholesterol, LDL, and apolipoprotein B levels near zero are diagnostic hallmarks required for enrollment
- Vitamin E status (plasma alpha-tocopherol) is both a monitoring biomarker and reflects treatment adherence
- High-dose fat-soluble vitamin supplementation (A, D, E, K) is standard care — document current supplementation regimen
- Acanthocyte percentage on peripheral blood smear is a required baseline hematological marker
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).