PROJΞcTS
drug repurposing projects
recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa is a disease affecting the function of type 7 collagen at the interface between the dermis and the epidermis.
APTEEUS wishes to engage its first drug candidate in the development of a topical skin product to treat this pathology. TEE786 is a molecule whose demonstrated pharmacological activities will have a beneficial effect on wound healing in patients with bullous epidermolysis. Success in this first development may open up several extensions of indications in other dermatoses.
mecp2 duplication Syndrome
MeCP2 gene duplication syndrome is a neurodevelopmental disease whose symptoms are caused by overexpression of the MeCP2 protein (ORPHA:85281). The prevalence of MECP2 duplication syndrome is unknown; more than 200 affected individuals have been described in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.
APTEEUS has developed a semi-quantitative measurement of the MeCP2 nuclear protein by immunocytochemistry. The screening of TEE Library identified several MeCP2 modulators capable of restoring normal protein expression using the cells of three patients with the syndrome. These molecules will be evaluated on neurons and on an animal model of the disease in collaboration with other research teams.
MeCP2 is also the protein responsible for Rett Syndrome when it is not functional. It is also pointed as a key regulator in other neurological disorders and cancer.
lesch nyhan syndrome
Lesch Nyhan syndrome is due to a deficiency of the enzyme HGPRT, for Hypoxanthine-guanine phosphoribosyltransferase, involved in the purine rescue pathway (ORPHA:510). The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.
The cells of patients with Lesch Nyhan syndrome are sensitive to particular culture conditions and have a characteristic metabolic profile that allows us to measure cell defect in vitro. The project consists in identifying molecules capable of modifying the sensitivity of these cells and normalizing their metabolic profile.
individualized projects
ACOX1 deficiency
The ACOX1 protein, for Acyl-CoEnzymeA oxidase type 1, is a peroxisomal protein involved in the beta-oxidation of very long chain fatty acids in the peroxisome (ORPHA:2971). Peroxisomal acyl-CoA oxidase deficiency is an ultra-rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature.
It is our technology based on liquid chromatography coupled with mass spectrometry that has enabled us to identify TEE886, a drug candidate that restores a normal level of very long fatty acids in the cells of an ACOX1 deficient child. The child is currently monitored to evaluate the progress of his pathology under treatment.
d-bifonctionnal protein deficiency
Bi-functional protein D is a peroxisomal enzyme involved in the beta-oxidation of very long fatty acids. Its deficiency leads to an accumulation of very long fatty acids and disrupts the other functions of the cell (ORPHA:300). D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns. The prevalence is very low, it is an ultra-rare disorder.
Apteeus used liquid chromatography coupled with mass spectrometry to highlight the accumulation of very long chain fatty acids in Noé’s cells in culture. Miniaturized and automated, the test has made it possible to identify several drugs whose benefit-risk ratio is being currently evaluated.
drug repurposing projects
individualized projects
recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa is a disease affecting the function of type 7 collagen at the interface between the dermis and the epidermis.
APTEEUS wishes to engage its first drug candidate in the development of a topical skin product to treat this pathology. TEE786 is a molecule whose demonstrated pharmacological activities will have a beneficial effect on wound healing in patients with bullous epidermolysis. Success in this first development may open up several extensions of indications in other dermatoses.
ACOX1 deficiency
The ACOX1 protein, for Acyl-CoEnzymeA oxidase type 1, is a peroxisomal protein involved in the beta-oxidation of very long chain fatty acids in the peroxisome (ORPHA:2971). Peroxisomal acyl-CoA oxidase deficiency is an ultra-rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature.
It is our technology based on liquid chromatography coupled with mass spectrometry that has enabled us to identify TEE886, a drug candidate that restores a normal level of very long fatty acids in the cells of an ACOX1 deficient child. The child is currently monitored to evaluate the progress of his pathology under treatment.
mecp2 duplication Syndrome
MeCP2 gene duplication syndrome is a neurodevelopmental disease whose symptoms are caused by overexpression of the MeCP2 protein (ORPHA:85281). The prevalence of MECP2 duplication syndrome is unknown; more than 200 affected individuals have been described in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.
APTEEUS has developed a semi-quantitative measurement of the MeCP2 nuclear protein by immunocytochemistry. The screening of TEE Library identified several MeCP2 modulators capable of restoring normal protein expression using the cells of three patients with the syndrome. These molecules will be evaluated on neurons and on an animal model of the disease in collaboration with other research teams.
MeCP2 is also the protein responsible for Rett Syndrome when it is not functional. It is also pointed as a key regulator in other neurological disorders and cancer.
d-bifonctionnal protein deficiency
Bi-functional protein D is a peroxisomal enzyme involved in the beta-oxidation of very long fatty acids. Its deficiency leads to an accumulation of very long fatty acids and disrupts the other functions of the cell (ORPHA:300). D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns. The prevalence is very low, it is an ultra-rare disorder.
Apteeus used liquid chromatography coupled with mass spectrometry to highlight the accumulation of very long chain fatty acids in Noé’s cells in culture. Miniaturized and automated, the test has made it possible to identify several drugs whose benefit-risk ratio is being currently evaluated.
lesch nyhan syndrome
Lesch Nyhan syndrome is due to a deficiency of the enzyme HGPRT, for Hypoxanthine-guanine phosphoribosyltransferase, involved in the purine rescue pathway (ORPHA:510). The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.
The cells of patients with Lesch Nyhan syndrome are sensitive to particular culture conditions and have a characteristic metabolic profile that allows us to measure cell defect in vitro. The project consists in identifying molecules capable of modifying the sensitivity of these cells and normalizing their metabolic profile.