The FDA last week awarded nearly 20 orphan drug eligibility! Several gene therapies have been shortlisted

Drugs: KZR-616 Research and Development: Kezar Life Sciences Treatment of Diseases: Dermatomyositis (DM); Polymyositis (POLYmyositis, PM) Introduction: KZR-616 is a "first-in-class" selective immunoprotease inhibitor with broad therapeutic potential in a variety of autoimmune diseases.
preclinical studies have shown that selective immunoprotease inhibition produces a wide range of anti-inflammatory reactions in animal models of a variety of autoimmune diseases, while avoiding immunosuppression.
early clinical results of KZR-616 have the potential for long-term treatment of severe, chronic autoimmune diseases and immuno-mediated diseases.
the drug is in Phase 2 clinical trials of lupus nephritis and dermatitis/multiple myocarditis, according to the company's website.
Drugs: ACN00177 Research and Development: Aeglea Biotherapeutics Treatment of Diseases: Homocystinuria Introduction: Homocysteinuria: Homocysteinuria is a rare disease caused by the genetic defect of cysthione β sysynthetic enzyme.
most common medical diseases associated with typical high cysteine uremia are cardiovascular complications, including an increased risk of blood clots.
other symptoms include bone abnormalities, eye crystal dislocation, developmental and learning defects.
currently available classic homocysteine uremia treatments include high doses of vitamin B6 and beetline (N, N, N,N-methyl glycine) to reduce homocysteine levels.
these treatments are effective in some patients, the response is significantly different because of the genetic mutations that drive the disease.
ACN00177 is a homocysteine enzyme that is expected to degrade homocysteine and oxidized homocysteine in the blood.
reduction in homocysteine/high cysteine levels may prevent or slow the progression of the disease in these patients.
: QBT-002 Research and Development Enterprise: Qing Bile Therapeutics Treatment of Diseases: Progressive Familyal Intra-hepatic Bile Siltation (progressive familial intratratra-trahepatic cholestasis, PFIC) Introduction: Sexual Familial liver bile siltation (PFIC) is a group of bile drainage disorder caused by genetic mutations, the occurrence of liver bile siltation caused by damage to the normal chromosomal recessive genetic disease, if not treated in a timely manner can eventually lead to liver failure.
, the university, has discovered the potential of tyhydroxycholic acid (THBAs) to treat bile siltation and metabolic diseases.
THBAs are new bile acids that are not commonly found in mice or human bile, and in human liver cytotoxicity trials, THBA is less hydrophobic than UDCA (current standard treatment) and norUDCA (clinical development of PSC) and is more effective in standard bile siltation models.
focuses on disease areas including PFIC and primary sclerotic bile rhinitis (PSC), and major preclinical candidates include QBT-002 and QBT-006.
THBA also conducted trials in preclinical models of non-alcoholic fatty hepatitis (NASH) and obtained positive preliminary results.
Drugs: GT-AS Research and Development Enterprise: PTC Therapeutics Treatment of Diseases: Angel syndrome (Angelman syndrome, AS) Introduction: Angel syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression or functional impairment of the UME3A gene in the parent 15q11-13 chromosome region.
mainly manifested in mental retardation, language, movement or balance development disorders, happy behavior, epilepsy and so on.
specific physiological mechanisms of the disease are not yet fully relevant.
GT-AS is a gene therapy developed for the treatment of AS.
gene therapy can target target brain regions in AS by delivering AAV vectors containing genetically modified UBUE3A encoded ubilin protein connective enzymes.
in preclinical studies, GT-AS has been shown to restore protein expression and function.
Drugs: PBKR03 Research and Development Enterprise: Passage Bio Treatment of Disease: Krabbe Disease Introduction: Krabbe disease is a rare, often life-threatening autosomal recessive lysosome storage disease caused by a mutation in the GALC gene that occurs early in a patient's life, causing aggressive damage to the brain and peripheral nervous system (PNS).
babies can show extreme irritability and excessive crying, feeding difficulties, fist grip, poor head control, stiffness and bowback.
PBKR03 is a gene therapy in the study that uses the next generation of AAVhu68 vectors to pass on genetically modified coding semi-lactose ceramidease (GALC) to patient cells.
PBKR03 will be injected into the cerebrospinal fluid through a single injection in the brain pool.
drugs: carrying genetically modified AAV8 vectors encoded α-1-Adulycase Research and development: Rain Bio Treatment Disease: Mucopolysaccharides Type 1, MPS I Introduction: Mucopolysaccharides Type 1, MPS I Storage disorder (MPS) is a complex, progressive multi-system-affected lysosomal disease, divided into 7 types, involving 11 gene-coded 11 kinds of lysosome enzymes, in addition to the most common MPS II. type X chain inheritance, other are normal chromosomal recessive inheritance.
MPS patients degrade glycoamine polysaccharide (GAGs) enzyme deficiency, resulting in the non-completely degradable mucosal polysaccharides in the lysosome build-up, which in turn leads to multi-system suffering, symptoms including facial abnormalities, bone deformities, liver and spleen enlargement.
gene therapy, which contains genetically modified enzymes that encode missing enzymes in patients with MPS I, has the potential to be one of the most effective treatments for the disease.
Drugs: Methoxyamine Hydrochloride Research and Development Enterprise: TRACON Pharmaceuticals Treatment of Diseases: Malignant Glioma Introduction: Glioma refers to tumors originating from glioblasts, is the most common primary intracranial tumor, with the highest incidence of glioblastoma (GBM), the annual incidence of glioma in China (3 to 6.4) / 100,000.
Methoxyamine Hydrochloride (TRC102) is a small molecular inhibitor in the clinical development phase of the DNA base removal repair pathway, which is the way to cause alkylation agents and anti-metabolite chemotherapy drug resistance.
the drug is being studied in a number of Phase 1 and Phase 2 clinical trials.
Drugs: ROM34 plus Cells for in-body transfection of wild RPS19 Protein Research and Development: Apriligen Treatment of Disease: Congenital Pure Red Blood Cell Regenerative Disorder Anemia (Diamond-Blackfanemia Anemia, DBA) Introduction: Congenital Pure Red Blood Cell Regenerative Disorder Anemia (DBA) is a nuclear Glycosysy synthesis disorders are caused by mutations in genes (RPS19, RPL35A, RPL5, RPL11, RPS24, RPS17, RPS7, RPS10, RPS26) that affect the synthesis of nuclear glycosomes.
the vast majority of children developed within 1 year of age, mainly manifested in erythocyte volume anemia, bone marrow red blood cell production defects, developmental malformations and tumor susceptivity.
DBA treatments are corticosteroids and blood transfusions, Apriligen is committed to developing an innovative DBA therapy to address patient needs.
Drugs: Trehalose Research and Development Agency: Beyond Batten Disease Foundation Treatment Disease: Neuronal paraffin lipid lignin deposition disorder (neuronal ceroid lipofuscinoses) Introduction: Neuron wax-like lipid lignin deposition disease (NCL) is a group of regenerative neurological diseases, usually recessive inheritance of normal chromosomes, according to the age of onset, pathological characteristics, disease-caused genes are divided into more than 10 subtypes.
is an organic compound that exists in the form of solids, soluble (water-soluble) and extremely weak acidic compounds (based on its pKa).
algae sugars are found in all uterine organisms, from yeast to humans.
involved in many enzyme-promoting reactions, which can be converted into β-D-glucose and α-D-glucose through algal glycosease catalysis.
addition, seaweed sugar can be synthesized by seaweed sugar 6-phosphate biosynthetics by interacting with seaweed sugar 6-phosphate synthase.
Drugs: IO-202 Research and Development Enterprise: Immune-Onc Therapeutics Treatment of Diseases: Acute Myeloid Leukemia (AML) Introduction: IO-202 is a "first-in-class" monoclonal antibody that blocks the signaling of the immunosuppressive subject LILRB4.
October 2018, Immune-Onc and the University of Texas published a groundbreaking study in the journal Nature (DOI:10.1038/s41586-018-0615-z) that sheds light on the role of LILRB4 in AML immunosuppression and tumor immersion.
Preclinical studies have shown that IO-202 inhibits leukemia cell immersion by converting the "don't kill me" signal into a "kill me" signal, activating T cells to kill AML cells, and by converting the "don't find me" signal into a "find me" signal.
: ATL1102 Research and Development Enterprise: Antisense Therapeutics Treatment: Duchenne muscular dystrophy (DMD) Introduction: ATL1102 is VLA-1102 4 (extremely late antigen-4) antisuppressants of sub-base CD49d, which showed activity in animal models of a variety of inflammatory diseases, including asthma and multiple sclerosis (MS), showed great therapeutic potential in clinical Phase 2 trial results.
ATL1102 also successfully completed a Phase 2 efficacy and safety trial, significantly reducing the number of cranial lesions in patients with relapsed remission-relieving multiple sclerosis (RRMS).
drugs: a highly purified unmodified sugar polymer consisting of (1,3) and (1,4)-β-glycoside bonds (a highly purified unmodified carbohydrate polymer whats consists of (1,3) and (1,1,1,0) 4)-beta-glycosidic linkages) Research and development agency: University Hospitals Cleveland Medical Center Treatment: Osteoosarcoma Introduction: Osteosarcoma is the most common osteopathic malignancies in children and adolescents, the pathogenesis and egenesis are unknown, mainly characterized by tumor-like substations.
incidence of osteosarcoma is about three parts per million, and the incidence rate is about 1.5:1 for men and women.
80% to 90% of osteosarcoma occurs at theend of the long tube-like backbone of the limbs, especially at the far end of the collarbone, the near end of the tibia and the near end of the tibia;
therapy promises to offer a new treatment option for patients with osteosarcoma.
: Maralixibat Research and Development: Mirum Pharmaceuticals Treatment of Diseases: Biliary atresia (BA) Introduction: Maralixibat is an oral selective top sodium-dependent bile acid transport protein (ASBT) inhibitor.
ASBT is present in the small intestine, which mediates the absorption of bile acid in the intestine and helps it circulate back to the liver.
Maralixibat allows more bile acid to be excreted from the feces, preventing excessive bile acid accumulation and controlling extreme itching associated with bile siltation liver disease.
, maralixibat is currently in clinical trials to treat ALGS (Alagille syndrome) and PPICs (in-hepatic bile siltation).
FDA has awarded Maralixibat breakthrough therapies for treating itching symptoms in children 1 year of age and older.
drugs: genetically modified AAV9 vectors carrying the expression OFF1 protein Research and development: Taysha Gene Therapies Treatment of Disease: Leigh syndrome (LS) Introduction: Leigh syndrome is a rare genetic neurodegenerative disease.
often becomes ill in inferferfication and after viral infection.
symptoms may include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, and epilepsy.
can lead to respiratory, heart and kidney damage.
Tysha's gene therapy uses AAV9 to cross the blood-brain barrier to precisely target dysfunct genes.
is advancing the development of 15 adeno-related virus (AAV) gene therapses to treat single-gene diseases of the central nervous system (CNS), including TSHA-104 for the treatment of SURF1 deficiency.
Drugs: Genetically modified AAV9 vectors carrying encoded N-acetyl glucosamine-1-phosphate transferase S1S3 variants Research and development enterprises: M6P Therapeutics Treatment of Diseases: Mucolipidos, ML Introduction: Slimid storage syndrome (ML) is a group of genetic metabolic disorders