According to incomplete statistics from the People's Daily health client reporter, in the first half of 2024, at least 4 rare disease drugs will be prescribed for the first time in China, benefiting patients with rare diseases such as paroxysmal nocturnal hemoglobinuria and Duchenne muscular dystrophy.
Defucote: used in patients with Duchenne muscular dystrophy over 2 years of age
On May 13, Peking Union Medical College Hospital prescribed the drug devokat to an 8-year-old patient with Duchenne muscular dystrophy. This is the first prescription of the drug in mainland China, and patients with such rare diseases have also realized the transition from "available drugs" to "available drugs".
On May 13, the pharmacist of the Pharmacy Department of Peking Union Medical College Hospital guided the use of drugs. Courtesy of the hospital
Duchenne muscular dystrophy is an inherited neuromuscular disorder. There is no cure for the disease, and the use of glucocorticoids can slow the progression of the disease, but there are significant side effects. In February 2017, Defokol was approved by the U.S. Food and Drug Administration for the treatment of patients with Duchenne muscular dystrophy over 2 years of age. The drug has no restriction on the stage of the patient's disease, is applicable to a wider range of people, has a lower incidence of adverse reactions such as weight gain, and has a more significant overall treatment effect. However, the drug has not been introduced in China before.
In accordance with the relevant requirements of urgently needed clinical drugs, Peking Union Medical College Hospital submitted an application to the State Food and Drug Administration for the temporary import of defukol tablets and designated them for use in patients with Duchenne muscular dystrophy in the hospital. Through the joint efforts of multiple departments, the project was approved and achieved clinical application in only 62 working days.
Ipicopam hydrochloride capsules: oral monotherapy for PNH in adults
In June, the first prescription for the innovative oral monotherapy of paroxysmal nocturnal hemoglobinuria (PNH) was issued in China. As the world's first and currently the only oral monotherapy for adult PNH, Ipicopan hydrochloride capsule was approved in China in April this year for the treatment of adult patients who have not received prior complement inhibitor therapy.
PNH is a chronic, progressive, life-threatening hematologic rare disease that requires lifelong maintenance medication to control hemolysis. At present, the standard treatment for PNH is anti-complement C5 therapy. Although this therapy can inhibit intravascular hemolysis, it cannot effectively inhibit extravascular hemolysis, resulting in residual anemia, fatigue and transfusion dependence in some patients.
Ipicopam hydrochloride capsule is the world's first and only oral inhibitor of specific complement factor B, acting on the proximal pathway of the complement bypass pathway of the immune system, which can fully control intravascular and extravascular hemolysis and compensate for the shortcomings of anti-complement C5 therapy.
Domestic fludrocortisone acetate tablets: treatment of aldosterone synthase deficiency
On June 6, the Department of Pediatric Endocrinology and Genetics of Shanghai Xinhua Hospital initiated the treatment of domestic fludrocortisone acetate tablets (emet) for a child with aldosterone synthase deficiency, which is the first case of congenital adrenal hyperplasia (CAH) treated by domestic fludrocortisone acetate tablets in China.
On June 6, Liang Lili, deputy chief physician of the Department of Pediatric Endocrinology and Genetics of Shanghai Xinhua Hospital, instructed the parents of the children to take medication. Courtesy of the hospital
Aldosterone synthase deficiency is caused by mutations in CYP11B2 genes and belongs to CAH in the Continental Rare Disease Directory. Aldosterone synthase deficiency is an extremely rare type of AH. Treatment is with oral mineralocorticoids (9α-fludrocortisone) and concentrated sodium chloride.
Domestic fludrocortisone acetate tablets were approved for marketing in August 2023, and since there were no domestic manufacturers producing fludrocortisone acetate before, most of the drug purchase channels for patients came from overseas original drug purchases.
Voxolitide: treatment of achondroplasia in children
On April 11, Beijing Children's Hospital issued the first prescription for a "pilot trial" rare disease drug introduced by the Beijing Rare Disease Drug Guarantee Pilot Zone for children with achondroplasia, and set a record for the shortest time for an unmarketed drug to enter clinical trials in China.
The prescription drug, called voxolitide, is the world's first rare disease drug for the treatment of children's achondroplasia, and it is also the first rare disease drug in the Beijing Rare Disease Drug Guarantee Pilot Zone.
On April 11, Ni Xin (middle), President of Beijing Children's Hospital, communicated with the families of the children who took the medication. Courtesy of the hospital
Childhood achondroplasia, also known as fetal chondrodystrophy, chondrodystrophic dwarfism, etc., is a congenital developmental abnormality due to defects of endochondral ossification. On February 5, Shanghai Pharmaceutical Park Trading was entrusted by Beijing Children's Hospital to start the overseas emergency procurement and import of voxolitide, and completed the early stocking of the first batch of rare disease drugs on February 22.