Every year's Rare Disease Day is an important moment for us to pay attention to these 'minority groups'. For rare disease patients, the development and approval of new drugs mean hope for life. In recent months, the China National Medical Products Administration's Center for Drug Evaluation (CDE) has prioritized the evaluation of multiple rare disease drugs, including symptomatic giant cell tumors of the tendon sheath, myasthenia gravis, giant cell arteritis, idiopathic pulmonary fibrosis, and other indications. These drugs are expected to accelerate approval and bring new treatment options to patients. This article will review the research and development progress of 7 new drugs based on publicly available information, hoping that they will be launched soon and light up the future for rare disease patients. According to the official website of CDE, since September 2024, CDE has added a "rare disease drug" label to new drugs included in priority review. This article will list the rare disease drugs officially included in the priority review by CDE between September 2024 and February 2025

Daiichi Sankyo: Piracitinib Hydrochloride Capsules
Mechanism of action: CSF1R small molecule inhibitor; Indications: Symptomatic giant cell tumor of the tendon sheath (TGCT).
Pixidartinib (PLX3397) is a small molecule CSF1R inhibitor that also inhibits the activity of c-kit and FLT3-ITD. This drug was included in the priority review by CDE in October 2024 and is suitable for treating symptomatic TGCT adult patients with severe lesions or functional limitations that cannot be improved through surgery. In January of this year, its listing application was accepted by CDE.
Piracitinib was previously approved by the US FDA in August 2019 for the treatment of symptomatic TGCT in adult patients. The results of the international multicenter phase 3 clinical trial supporting this approval showed that 39% of patients achieved remission after 25 weeks of treatment with Pixitinib, with a partial remission rate of 23% and a complete remission rate of 15%, while the placebo group had a remission rate of 0%. According to the FDA's press release at the time, Pixitinib was the first approved treatment for TGCT.

Johnson&Johnson: Nicalizumab Injection
Mechanism of action: FcRn antibody; Indication: Myasthenia gravis.
Nipocalimab is an antibody therapy targeting the Fc receptor (FcRn) in newborns, which has been shown in clinical trials to reduce immunoglobulin (IgG) levels, including pathogenic IgG, which is considered one of the fundamental causes of autoimmune diseases. In November 2024, this therapy was included in the priority review by CDE and is suitable for treating adult and adolescent patients (over 12 years old) with systemic myasthenia gravis (gMG) who are positive for autoantibodies. GMG is a chronic rare autoimmune disease.
Previously, Johnson&Johnson had submitted marketing authorization applications (MAA) for Nicalizumab to both the FDA and the European Medicines Agency (EMA), seeking indication approval for gMG. The company announced in January of this year the results of a critical Phase 3 clinical trial aimed at evaluating the efficacy of Nicalizumab in a wide range of antibody positive (anti AChR, anti MuSK, and anti LRP4) adult patients with gMG. The study achieved the primary endpoint of statistically significant and clinically significant improvement in the gMG disease indicator, Activities of Daily Living Score (MG-ADL), in patients treated with Nicalizumab within 24 weeks. It is worth mentioning that this therapy was also listed by industry media Evaluate as one of the top 10 potential heavyweight therapies expected to be launched this year at the beginning of this year.

Rongchang Biotechnology: Injection of Taitacept
Mechanism of action: BLyS/APRIL dual target fusion protein; Indication: Myasthenia gravis.
Tetaxip is a dual target antibody fusion protein that can simultaneously target BLyS and APRIL, targeting the source of pathogenic antibody production - B cells and plasma cells, thereby reducing the production of pathogenic antibodies and exerting therapeutic effects. Taitacept has previously been approved for two indications in China, including systemic lupus erythematosus (SLE) and rheumatoid arthritis. In November 2024, the application for the new indication of Taitacept for myasthenia gravis was included in the priority review by CDE.
In recent years, B-cell targeted therapy has shown promising therapeutic prospects in myasthenia gravis. Studies have found that compared to traditional immunotherapy regimens, B-cell targeted therapy can significantly reduce the recurrence rate of myasthenia gravis and has a low discontinuation rate. The Phase 3 clinical trial of Taitacept in the treatment of gMG in China has reached its primary endpoint. The clinical research results show that it can sustainably and effectively improve the clinical condition of gMG patients, and demonstrate good efficacy and safety.

AbbVie: Upatinib Extended Release Tablets
Mechanism of action: JAK inhibitor; Indication: Adult giant cell arteritis (GCA).
Upatinib sustained-release tablets are a selective JAK inhibitor that has been approved in China for the treatment of multiple indications. Previous studies have shown that the inhibitory effect of this product on JAK1 is greater than that on JAK2, JAK3, and TYK2. In December 2024, the marketing application of Upatinib Extended Release Tablets for adult GCA indication was included in the priority review by CDE. AbbVie's previous press release stated that Upatinib Extended Release Tablets may become the first oral treatment option for GCA patients.
GCA is an autoimmune disease that causes inflammation of the temporal artery and other intracranial arteries, aorta, and other large and medium-sized arteries. Upatinib sustained-release tablets have achieved positive results in a phase 3 study conducted on GCA patients, with 46% of patients receiving Upatinib combined with a 26 week hormone reduction regimen achieving sustained remission, compared to 29% of patients receiving placebo combined with a 52 week hormone reduction regimen.

Weiyazhen Biotechnology: Pulestan Sodium Injection
Mechanism of action: Small nucleic acid drugs targeting APOC3 targets; Indication: Familial chylomicron syndrome (FCS).
Plezilan Sodium Injection (VSA001) is a liver targeted small interfering RNA (siRNA) drug that efficiently and persistently silences the mRNA levels of apolipoprotein C-III (APOC3) to reduce the expression of APOC3 protein. Through a dual pathway of lipoprotein lipase (LPL) dependence and non dependence, it effectively reduces the levels of serum triglycerides (TG) and TG rich lipoproteins (TRL) and their degradation residues. According to a press release from Weiyazhen, multiple clinical trials have shown that the drug has a highly effective and long-lasting TG lowering effect, good safety tolerance, and convenient administration every three months.
In December 2024, Plezilan Sodium was included in the priority review by CDE for use in reducing triglyceride levels in adult patients with familial chylomicron syndrome (FCS) on the basis of dietary control, thereby reducing the risk of acute pancreatitis. FCS is a rare disease that endangers the life of patients, mainly characterized by extremely severe elevated TG levels, severe postprandial abdominal pain, and skin jaundice, which can cause various serious complications including acute pancreatitis. Conventional lipid-lowering therapy cannot meet the treatment needs of patients with this disease, and there is still a lack of safe and effective drug treatment options worldwide. In January 2025, the marketing application for Plezilan Sodium for this indication has also been officially accepted by CDE.

Boehringer Ingelheim: Namistat tablets
Mechanism of action: PDE4B inhibitor; Indication: Idiopathic pulmonary fibrosis.
Nerandomilast (BI 1015550) is an oral PDE4B inhibitor under development by Boehringer Ingelheim, which has a preferential enzymatic inhibitory effect on PDE4B. Research has shown that this therapy has a dual mechanism of anti-inflammatory and anti fibrotic effects, and is expected to treat inflammation related to pulmonary fibrosis and progressive fibrotic interstitial lung disease. In 2022, the FDA granted the product breakthrough therapy designation, highlighting its potential in IPF treatment.
In January 2025, Namistat tablets were included in the priority review by CDE for the treatment of idiopathic pulmonary fibrosis (IPF). The marketing application for this drug was officially accepted by CDE on February 25th. IPF is a serious and fatal lung disease characterized by continuously increasing degree of pulmonary fibrosis, continuous decline in lung function, worsening respiratory symptoms, and severely affecting the quality of life of patients. The natural course of IPF is variable and unpredictable, with poor prognosis. The median survival time of patients after diagnosis is about 3 years, which is lower than the 5-year survival rate of most cancers. At present, the direct pathogenic pathway of IPF is not clear, and the treatment methods have been very limited.

Hansen Pharmaceuticals: Inalizumab Injection
Mechanism of action: anti-CD19 monoclonal antibody; Indications: Immunoglobulin G4 related diseases.
Inalizumab is an anti-CD19 monoclonal antibody, and Hansen Pharmaceuticals has previously obtained exclusive licenses to develop and commercialize this product through cooperation in mainland China, Hong Kong, and Macau. This product has been approved for marketing in the United States, Japan, Europe, and China, and is suitable for the treatment of adult patients with NMOSD who are positive for anti aquaporin 4 (AQP4) antibodies. In January 2025, the application for the new indication of Inalizumab Injection for immunoglobulin G4 related diseases (IgG4 RD) was included in the priority review by CDE.
IgG4 RD is a chronic, systemic, immune-mediated fibroinflammatory disease that can affect multiple organs in the body. According to a press release from Hansen Pharmaceuticals, based on the positive results of its globally critical Phase 3 trial MITIGATE, the inclusion of Inalizumab reduced the risk of recurrence in patients by 87% compared to placebo. 57.4% of patients achieved complete remission without recurrence or treatment at week 52, while significantly reducing the use of glucocorticoids, confirming its safety and effectiveness through the CD19+B cell depletion mechanism. The results of the MITIGATE study have previously been published in the New England Journal of Medicine (NEJM), and the FDA has also granted breakthrough therapy recognition for imatinib monoclonal antibody for IgG4 related diseases based on the research findings. The relevant regulatory procedures are currently being applied for.

The birth of every new drug is the intersection of science and hope. We look forward to the early approval of these rare disease drugs that have been included in the priority review, bringing more treatment options to patients and injecting more light and possibilities into their lives. May every day in the future, patients with rare diseases feel the warmth of medical progress, and may we work together to make "rare" no longer "helpless".

Source: https://pharm.jgvogel.cn/c1491317.shtml