hereditary

Avoralstat (BCX4161) is an oral plasma kallikrein (PKK) inhibitor. Which is used for the treatment of hereditary angioedema.

Elesclomol (STA-4783) is an oxidative stress inducer and a highly lipophilic copper ion carrier. Elesclomol induces apoptosis in tumor cells and is used in copper death related studies. Elesclomol also inhibits FDX1-mediated Fe-S cluster biosynthesis.

Crilvastatin (PMD 387) is a novel, non-competitive hydroxymethylglutaryl coenzyme A reductase inhibitor with cholesterol-lowering activity, inhibiting cholesterol uptake in rats with hereditary hypercholesterolemia.

N-Acetyl-D-mannosamine (ManNAc) is a potential drug for treating hereditary inclusion body myopathy.

Tocofersolan (TPGS) is a polyethylene glycol derivative of α-tocopherol and synthetic water-soluble version of Tocopherol. Tocofersolan is an oral treatment of vitamin E deficiency due to digestive malabsorption in pediatric patients with congenital chronic cholestasis or hereditary chronic cholestasis.

Lanadelumab (SHP643) is a humanized IgG1 monoclonal antibody targeting plasma kallikrein (pKal) with a Ki value of 0.12 nM. Lanadelumab effectively inhibits both free pKal and its interaction with high molecular weight kininogen (HMWK)-bound pKal. Lanadelumab has demonstrated potential in hereditary angioedema research and represents a promising therapeutic antibody for studying kallikrein-kinin system regulation.

Carglumic Acid (Ureidoglutaric acid) is an orphan drug used to treat hyperammonemia in patients with N-acetyl glutamate synthase absence. This rare hereditary disease results in elevated blood levels of ammonia, which can eventually cross the blood-brain barrier and lead to neurologic problems, coma, cerebral edema, and death. Carglumic acid was approved by the U.S. FDA on 18 March 2010.

(9R)-RO7185876 (Compound example 16) is a γ-secretase inhibitor. It reduces the secretion of Αβ42. This compound can be employed in the research of Alzheimer's disease, cerebral amyloid angiopathy, hereditary cerebral hemorrhage with amyloidosis, multi-infarct dementia, senile dementia, or Down syndrome.

D-G23 is a selective RAD52 inhibitor. It disrupts RAD52-mediated DNA repair pathways and suppresses the growth of cancer cells deficient in BRCA1 and BRCA2. D-G23 shows promise for research into homologous recombination-related cancers caused by BRCA1/2 mutations, such as hereditary breast and ovarian cancers.

STG-001 is an antagonist of retinol-binding protein 4 (RBP4). By inhibiting RBP4, STG-001 reduces the synthesis of retinaldehyde and bis-retinoids, thereby preventing photoreceptor degeneration. This compound is applicable in studies related to sex-linked hereditary retinopathies such as Stargardt disease (STGD).

BCH-HSP-C01 is a lead compound that restores AP-4 dependent protein transport in neuronal models of adaptor protein complex 4 (AP-4) related hereditary spastic paraplegia. It is applicable in research on autophagy-related diseases.

Plasma kallikrein-IN-5 (Compound 20) is an effective covalent inhibitor of plasma kallikrein (Pka), with an IC50 of 66 nM at 1 minute and 70 pM at 24 hours. It is used in research related to hereditary angioedema (HAE).

Inotersen (ISIS-420915) sodium is a 2′-O-methoxyethyl–modified antisense oligonucleotide that selectively targets transthyretin RNA, reduces TTR transcript and protein levels. Inotersen serves as a validated molecular tool for mechanistic and translational research into hereditary transthyretin amyloidosis polyneuropathy.

Donidalorsen is an antisense oligonucleotide engineered to selectively reduce the production of prekallikrein (PKK), a key upstream mediator in inflammatory cascade activation, and is used in hereditary angioedema research to investigate bradykinin-driven inflammation, acute attack prevention mechanisms, and RNA-targeted therapeutic strategies.

LSD1/HDAC-IN-3 is an inhibitor targeting class I HDACs and LSD1. It effectively inhibits HDAC1, HDAC2, HDAC3, and LSD1 with IC50 values of 1702 nM, 842 nM, 358 nM, and 1074 nM, respectively. Demonstrating antioxidant properties, it increases acetylation and methylation of histone H3 in H2O2-treated ARPE-19 and 661W retinal cells. In the rd10 mouse model of retinitis pigmentosa, LSD1/HDAC-IN-3 enhances photoreceptor survival. It is applicable for studying hereditary retinal diseases such as retinitis pigmentosa (RP).

WGU55 is a selective and potent reversible type II transmembrane serine protease TMPRSS6 inhibitor with a Ki value of 12.15 nM. In KEK293 cells, WGU55 inhibits TMPRSS6 activity with an IC50 value of 138 nM. It displays a Ki value of 3510 nM for the homologous protease matriptase (SI=289) and a Ki value of 5.2 μM for the key coagulation protease factor Xa. WGU55 is applicable in the study of iron overload-related diseases, such as hereditary hemochromatosis.

GalNac-siRNA negative control (21nt) serves as the negative control form of GalNac-siRNA. GalNac-siRNA is an inhibitor conjugate targeting the asialoglycoprotein receptor (ASGPR). This compound holds potential for research into hereditary transthyretin amyloidosis, acute hepatic porphyria, hemophilia, and hypercholesterolemia.

Icatibant Acetate, an antagonist of the bradykinin B2 receptor, is used in the treatment of hereditary angioedema.

Nogotrienone is an anabolic steroid with fertility and contraceptive activity that has been studied as a therapeutic agent for hereditary angioneurotic edema.

Berotralstat (BCX7353) is a second-generation, synthetic, and orally active plasma kallikrein inhibitor with low toxicity. It is highly specific and effectively used in the research of hereditary angioedema (HAE) attacks. Berotralstat functions by inhibiting the enzymatic activity of plasma kallikrein, which is responsible for the release of bradykinin. This blocking mechanism targets the major biologic peptide involved in the promotion of swelling and pain associated with HAE attacks[1][2].

Nitisinone-13C6 is intended for use as an internal standard for the quantification of nitisinone by GC- or LC-MS. Nitisinone (T1684) is an inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPPD), which converts 4-hydroxyphenylpyruvate (HPPA) to homogentisate in the tyrosine catabolic pathway.1Nitisinone increases urinary levels of HPPA and 4-hydroxyphenyllactate (HPLA) in rats when administered at a dose of 10 mg/kg. Nitisinone (T1684) (3 mg/kg) prevents the neonatal lethality of fumarylacetoacetate hydrolase (FAH) deficiency in mice when administered to pregnant dams.2It exhibits hepatoprotective effects inFAH-/-mice, such as prevention of increases in plasma levels of aspartate serine aminotransferase (AST) and conjugated bilirubin, when administration is continued following birth at a dose of 1 mg/kg. Nitisinone (T1684) (100 μg) decreases urinary excretion of homogentisate and increases urinary excretion of HPPA, HPLA, and 4-hydroxyphenylacetate in a mouse model of alkaptonuria induced by ethylnitrosourea.3Formulations containing nitisinone have been used in the treatment of hereditary tyrosinemia type 1 (HT-1).

Patisiran sodium is a double-stranded small interfering RNA (siRNA) that selectively binds a defined sequence within transthyretin (TTR) messenger RNA. Patisiran sodium possess potent and specific suppression of hepatic synthesis of both mutant and wild-type TTR protein, and its mechanism-based activity underpins its significant application in hereditary TTR amyloidosis research, gene silencing therapeutics development, and RNA interference–based translational medicine.

PRMT5-IN-14 is a PRMT5 inhibitor used to treat cancer, sickle cell, and hereditary persistence of foetal hemoglobin (HPFH) mutations.

Plasma kallikrein-IN-3, a potent inhibitor ( IC 50 : 0.15 μM) of plasma kallikrein, finds application in research related to hereditary angioedema, diabetic macular edema, and diabetic retinopathy [1].