Editing Abetalipoproteinemia (section)

== Current research ==
A primary goal of abetalipoproteinemia research is to supply the fat-soluble vitamins the body lacks in the disease. Previous research considered the short-term use of intravenous infusion of vitamins A and E. The goal was to determine whether these infusions would delay or counteract the symptoms in patients. No results were posted.<ref>{{ClinicalTrialsGov|NCT00004574|Vitamin Replacement in Abetalipoproteinemia}}</ref>

More recent research has focused on different ways to supply the patient with vitamin E. In 2018, the ''Journal of Lipid Research'' published a study testing alternative forms of vitamin E absorption. Currently, vitamin E is most often supplemented in the fat-soluble form vitamin E acetate. Due to fat malabsorption, the intended supplementation is considerably compromised. Two different forms were tested: vitamin E tocofersolan and α-tocopherol acetate. The study concluded that plasma bioavailabilities were extremely low (2.8% and 3.1%, respectively). Additionally, plasma concentrations of tocopherol were not significantly different in patients.<ref>{{Cite journal |vauthors=Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, Di Filippo M, Laveille C, Michalski MC, Poinsot P, Caussy C, Sassolas A, Moulin P, Reboul E, Charriere S, Levy E, Lachaux A, Peretti N |date=September 2018 |title=Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease |journal=Journal of Lipid Research |volume=59 |issue=9 |pages=1640–1648 |doi=10.1194/jlr.M085043 |pmc=6121919 |pmid=30021760 |doi-access=free}}</ref>

This study provides new insight in vitamin E supplementation and suggests further research is needed with different forms of vitamin E as possible treatment options to abetalipoproteinemia.<ref>{{Cite journal |vauthors=Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, Di Filippo M, Laveille C, Michalski MC, Poinsot P, Caussy C, Sassolas A, Moulin P, Reboul E, Charriere S, Levy E, Lachaux A, Peretti N |date=September 2018 |title=Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease |journal=Journal of Lipid Research |volume=59 |issue=9 |pages=1640–1648 |doi=10.1194/jlr.M085043 |pmc=6121919 |pmid=30021760 |doi-access=free}}</ref>

Currently, there is a clinical study recruiting abetalipoproteinemia patients to study inherited retinal degenerative disease.<ref>{{ClinicalTrialsGov|NCT02435940|Inherited Retinal Degenerative Disease Registry}}</ref> There is also a second clinical study, currently under recruitment, to investigate the consequences of deficiencies in lipophilic nutrients in this disease, such as lutein and carotenes, on retinal macular function. <ref>{{ClinicalTrialsGov|NCT05208879|CArotenoid in hypoChOlesterolemia (CaCo)}}</ref>