PROJΞcTS

drug repurposing projects

lesch nyhan syndrome

34117935_1975108402499763_7213920739303358464_n

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.

Models development...
0%

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.

Drug candidate identification...
0%

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.

Evaluation of the drug candidate TEE786...
0%

individualized projects

Fumarase deficiency

67624163_102775167744702_964300516790108160_n

Fumarase is an enzyme mainly involved in the krebs cycle, essential for the production of energy by the mitochondria. Its deficiency leads to fumaric aciduria (ORPHA:24), a disease that disrupts the normal development of the child. It is an ultra-rare disease with about 100 cases reported to date.

Apteeus currently uses a child’s cells to highlight the defect of fumarase in vitro.

In vitro model development
0%

Acid ceramidase deficiency

asap

Ceramidease (acid) is a lysosomal enzyme involved in the recycling and catabolism of ceramides. Its deficiency leads to an accumulation of ceramides in the lysosome and other organelles and disrupts cell metabolism (ORPHA:333 and 2590). Proximal spinal muscular atrophy syndrome-progressive myoclonic epilepsia or SMA-PME is a manifestation of ceramidease deficiency affecting only about ten patients. It is an ultra-rare disease. Farber’s disease, which has more severe and early symptoms, affects a few more patients.

Apteeus is currently developing the screening methodology on the cells of a child with SMA-PME.

In vitro model development
0%

ACOX1 deficiency

Rond_MHM

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.

Clinical evaluation of TEE886
0%

d-bifonctionnal protein deficiency

43788044_444876402585140_2995922869315174400_n

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.

Clinical evaluation of TEE1121
0%

drug repurposing projects

individualized projects

lesch nyhan syndrome

34117935_1975108402499763_7213920739303358464_n

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.

Models development...
0%

Fumarase deficiency

67624163_102775167744702_964300516790108160_n

Fumarase is an enzyme mainly involved in the krebs cycle, essential for the production of energy by the mitochondria. Its deficiency leads to fumaric aciduria (ORPHA:24), a disease that disrupts the normal development of the child. It is an ultra-rare disease with about 100 cases reported to date.

Apteeus currently uses a child’s cells to highlight the defect of fumarase in vitro.

In vitro model development
0%

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.

Drug candidate identification...
0%

Acid ceramidase deficiency

asap

Ceramidease (acid) is a lysosomal enzyme involved in the recycling and catabolism of ceramides. Its deficiency leads to an accumulation of ceramides in the lysosome and other organelles and disrupts cell metabolism (ORPHA:333 and 2590). Proximal spinal muscular atrophy syndrome-progressive myoclonic epilepsia or SMA-PME is a manifestation of ceramidease deficiency affecting only about ten patients. It is an ultra-rare disease. Farber’s disease, which has more severe and early symptoms, affects a few more patients.

Apteeus is currently developing the screening methodology on the cells of a child with SMA-PME.

In vitro model development
0%

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.

Evaluation of the drug candidate TEE786...
0%

d-bifonctionnal protein deficiency

43788044_444876402585140_2995922869315174400_n

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.

Clinical evaluation of TEE1121
0%

ACOX1 deficiency

Rond_MHM

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.

Clinical evaluation of TEE886
0%