In 2020, the United States approved new treatments for these rare diseases

From the disease, this year's approval of new drugs in addition to tumors, rare diseases are also a bright spot.
outbreak, many rare disease patients are waiting for hope of a cure.
▌ on March 6, 2020, the FDA approved some rare disease therapies, Cushing's disease/Cushing syndrome, and the oral tablet Osilodrostat (Isturisa) was approved for use in treating adult patients with Cushing's disease who could not undergo pituitary surgery or who remained untreated after surgery.
this is the first FDA-approved treatment to directly address excessive cortisol production, inhibiting cortisol synthesis by blocking 11 beta-hydroxyases.
can cause serious health problems, including high blood pressure, obesity, type 2 diabetes, blood clots in the legs and lungs, bone loss, weakened immune systems and depression, according to good doctors.
02. Control of bleeding in patients with type A/B haemophilia in April, human clotting factor VIIa similar material Sevenfact was approved for use in adults and adolescents over 12 years of age A or B haemophilia patients bleeding events treatment and control.
03. New options for bone marrow prolific abnormal syndrome in April, the red blood cell maturant Reblozyl (luspatercept-aamt) was approved to treat anemia in patients with extremely low- to moderate-risk bone marrow-growth abnormal syndrome.
Reblozyl was first approved in November 2019 to treat anemia in adult patients with β-thalassemia who require regular infusion of red blood cells (RBC).
this is the second allergy.
04, the first neurofibromatosis drug was marketed in April, met inhibitor Selumetinib (Koselugo) was approved to treat children aged 2 years and older with type 1 neurofibromatosis (NF1).
is an important milestone in the FDA's approval of the first drug to treat NF1.
may be the first new drug for Caposi sarcoma in more than 20 years, the FDA approved Pomalidomide (Pomalyst) for the treatment of AIDS-related Caposi sarcoma patients with AIDS-related antiretroviral therapy (HAART) resistance, and HIV-negative Caposi sarcoma patients.
is the first new treatment option for patients with Capoci sarcoma in more than 20 years.
is a rare form of cancer, usually manifested as skin lesions, which mainly affect people with low immunity.
06, fearless NMOSD, live out the "sunshine" color! Optic neurospinal cord disease (NMOSD) mainly damages the optic nerve and spinal cord, leading to blindness, muscle weakness and paralysis.
about 50% of patients with NMOSD seizures cause permanent vision impairment and paralysis.
so far, three drugs in the NMOSD field have been approved for sale abroad: in June 2019, the FDA approved the listing of C5 supplement inhibitor Ecolizumab (Soliris) to treat AQP4 antibody-positive adult NMOSD patients.
is the first new drug approved for treatment in the field of NMOSD.
June this year, the anti-CD19 monoclonal antibody Uplizna was launched as a two-time-a-year maintenance program after the initial dose for the treatment of anti-AQP4 antibody-positive NMOSD.
August 15, the FDA approved Enspryng's listing for the treatment of AQP4 antibody-positive NMOSD.
there is currently no approved treatment in the country.
07, fenfluramin reduces the risk of seizures associated with Dravet syndrome On June 26, Fenfluramine, Fintepla oral solution was approved for use in the treatment of seizures associated with Dravet syndrome in patients 2 years of age and older.
this is a rare childhood epilepsy characterized by frequent and severe drug-resistant seizures, associated hospitalization, and an increased risk of sudden accidental death (SUDEP).
08, long-chain fatty acid oxidation disorder ushered in the first treatment July 1, fda approved Triheptanoin (Dojolvi) to be listed for the treatment of molecularly diagnosed long-chain fatty acid oxidation disorder (LC-FAOD) pediatric and adult patients.
LC-FAOD is a rare, life-threatening genetic disease in which patients cannot convert long-chain fatty acids into energy.
09, excessive narcolepsy ushered in a new treatment July 21, low-sodium therapy Xywav oral solution was approved for the treatment of 7 years of age and older onset of narcolepsy patients with sudden onset or daytime excessive drowsiness (EDS).
Xywav is a sodium hydroxybutyrate product whose unique cation composition reduces the risk of excessive sodium ion intake after long-term medication in patients with densophation.
10, the first oral drug for spinal muscular dystrophy On August 7, the first oral drug for spinal atrophy (SMA), Evrysdi, was launched to treat infants and adults 2 months and older with SMA.
is the first FDA-approved SMA oral therapy and the third approved drug to treat SMA patients.
the other two are Nusinersen, Spinraza, and Zolgensma, the "most expensive drug of all time" approved last year.
11, the second target drug for Duchia muscular dystrophy on August 13, Du's muscular dystrophy patients ushered in a new turn of treatment.
FDA has accelerated the approval of Viltolarsen injections for the treatment of patients with Duchy muscular dystrophy who have been diagnosed with a mutation in the exon 53 gene.
is the second FDA-approved targeted treatment for such mutations.
12, the first targeted drug to treat HES, high eosinophil growth (HES) can cause progressive damage to multiple organs of the body over time and, in severe cases, life-threatening.
September, IL-5 monoclonal antibody Mepolizumab (product name: Nucala) was approved for the treatment of HES patients in adults and children 12 years of age and older with symptoms that last for 6 months or more and have no other clear non-hematological secondary cause.
is the first targeted drug approved in the United States to treat HES patients in nearly 14 years.
13, to control the continuing seizures of epilepsy, and strive for rescue time on November 6, Sesquient was approved for the treatment of adult and child patients with epilepsy persistent state (SE).
long-term seizures, which, if not treated promptly, can lead to irreversible brain damage or death.
14, Early Aging: Before you grow up, you're old until November 20th, when Lonafarnib (commodity name: Zokinvy) was approved for the treatment of early aging (HGPS) and premature aging-like nuclear fiber protein disease (PL).
is the world's first approved treatment for early-on-age disease.
is an extremely rare disease that causes children to age rapidly and eventually dies of "old age disease".
15, PH1 ushered in the first therapy, farewell liver and kidney transplant November 23, RNAi drug Lumasiran (commodity name: Oxlumo) was approved for the treatment of type 1 primary oxalic aciduria (PH1).
is a rare genetic disease that causes patients to produce excessive amounts of herbal acids that cannot be discharged in time and, in severe cases, require a liver and kidney transplant.
is the first FDA-approved treatment for the rare disease PH1.
16, rare infant and young child tumors ushered in a new treatment November 25, the FDA accelerated the approval of Naxitamab (Danyelza) on the market, in combination with granulocyte-macrophage cluster stimulation factor (GM-CSF) for the treatment of relapsed/refractory high-risk neuroblastoma in children 1 year and older and adult patients.
17, the first rare hereditary obesity therapy, was approved on November 27th for the chronic weight management of obese adults and children (over 6 years of age) due to the genetic defects of ahetinogen (POMC), pre-protein-converting enzyme oxalolytic 1 (PCSK1) or leptin-infested (LEPR) gene defects.
18, the first oral therapy to prevent edema on December 3, the daily oral therapy Berotralstat (Orladeyo) is available to prevent hereditary angioedema (HAE) attacks in adults and children over 12 years of age.
is the first targeted oral therapy to prevent HAE seizures.
19, multiple sclerosis (MS) ushered in a "harvest" (1) March 26, a new generation of daily oral S1P subject control agent Ozanimod (Zeposia) was approved for adult multiple sclerosis (RMS), including clinical isolation syndrome (CIS), relapsed remission disease (RRMS) and active secondary progressive disease (SPMS).
(2) On April 30, the new bioethic alternative drug BFIERTAM (BFIERTAM) was approved for use in adult patients with RMS, including CIS, RRMS and SPMS.
(3) On 21 August, the sub-cortic injection drug Ofatumab, Kesimta, was approved to treat adult patients with RMS, including CIS, RRMS and SPMS.
(4) On December 14, monoantitherapy Ocrelizumab (Ocrevus) was approved to reduce the single infusion time for follow-up medication from 3.5 hours to 2 hours in patients with primary or relapsed progressive MS patients who had not experienced any serious infusion-related adverse reactions in the past.
, on May 9, the NMPA approved Siponimod for the treatment of adult RMS, including CIS, RRMS and SPMS.
is currently the only oral disease modification therapy (DMT) drug approved for SPMS in China and was approved by the FDA in March 2019.
▌ In May, Antanan (TMPA) was approved by the State Drug Administration (NMPA) for the treatment of dance diseases related to Huntington's disease (HD) and adult delayed movement disorder (TD), becoming the first approved drug in China.
china became the second country in the world to approve the drug.
June, injections were introduced with aga-glyase β (Fabzan) for long-term enzyme replacement therapy in adult patients with fabri disease (α-semi-lactose glycosidease A deficiency) or in children 8 years of age and older.
this is the first Fabry disease special effects drug to be marketed in China.
same month, the pulmonary fibrosis treatment drug, The Nidanib SoftGel (Ofev, Vegat), became the first drug to be used for systemic sclerosis-related interstitiopathic pulmonary disease (SSc-ILD).
September, the long-term enzyme replacement therapy drug Adolfalase β (Hayth) was approved by NMPA for the treatment of mucosal polysaccharide sepsis type II.
October last year, soft capsules of chlorobenzene were approved for use in the treatment of wild or genetic transthyroxine protein amyloid cardiomyopathy (ATTR-CM) in adults.
December, Ranariddh Monoanti (Dazeyou) was approved for use in patients 12 years of age and older to prevent the onset of hereditary angioedema (HAE).
is currently the world's only single anti-drug for hereditary angioedema, filling the gap in China HAE's long-term non-targeted treatment.
now, there are more than 7,000 rare diseases in the world, most of them genetic diseases, often life-threatening, but patients are faced with difficulties in diagnosis, misdiagnosis rate, can not afford special drugs or no drugs available.
from the approval of new treatments, the number of rare diseases approved in the United States is increasing, far higher than in China, the average time difference between the approval of new drugs is 3-5 years.
china is still very different from the United States in the treatment of rare diseases.
For patients with rare or difficult diseases in China, you may wish to consult remotely through the international community, understand the relevant information of new international therapies, listen to the opinions of authoritative experts at home and abroad, and get their tailor-made treatment plan to give themselves a "heart-stopping pill".
source: FDA website