International Rare Disease Day
 

The last day of February each year is International Rare Disease Day. This year's theme is "More than you can imagine." Rare diseases, often referred to as "orphan diseases," are conditions with extremely low incidence rates but severe, often life-threatening symptoms. Over 7,000 rare diseases are known globally, affecting more than 300 million people, with over 20 million patients in China. These patients face challenges in diagnosis, access to medication, healthcare coverage, and social integration.
 

Image source: Illness Challenge Foundation
 

The pathogenesis of rare diseases is complex and varied, with approximately 80% being monogenic inherited disorders caused by gene mutations. These mutations can lead to cellular dysfunction, metabolic disorders, or even organ system abnormalities, severely impacting patients' quality of life.
 

In recent years, the rapid development of gene therapy technologies has brought new hope for treating rare diseases. Gene therapy intervenes directly at the genetic root of diseases by repairing or replacing defective genes.
 

For example, congenital deafness. DFNB9 deafness is a relatively common form, often causing severe or profound hearing loss and speech disorders in children. Otoferlin deficiency (mutations in the OTOF deafness gene) is the most common genetic cause of this auditory neuropathy. Developing gene therapies targeting the OTOF gene is the most ideal strategy for treating children with this type of congenital deafness. Repairing or replacing the missing or defective OTOF gene in patients addresses the root cause of otoferlin functional deficiency, potentially restoring the child's hearing to a state close to natural sound perception.
 

Eye and ENT Hospital of Fudan University​ is responsible for tackling this disease. Dr. Shu Yilai, Vice President of the Otolaryngology Research Institute and Director of the Hereditary Deafness Diagnosis and Treatment Center at the hospital, along with the deafness gene therapy team, developed RRG-003. This is a dual-vector gene compensation therapy based on adeno-associated virus (AAV) for treating DFNB9. Through a single intra-ear injection, the gene therapy drug is delivered to the child's inner ear, compensating for the defective otoferlin, thereby restoring or improving the child's auditory and speech functions.
 

In December 2022, the deafness gene therapy team at Eye and ENT Hospital of Fudan University performed the first injection of a hereditary deafness gene therapy drug.

 

The otolaryngology gene therapy team at Eye and ENT Hospital of Fudan University​ uses a gene compensation approach, delivering the gene therapy drug to the child's inner ear via minimally invasive local injection. Since the first child with hereditary deafness received gene therapy in December 2022, the child has been followed up for nearly 10 months, showing clear hearing improvement and the ability to engage in daily conversations.
 

Gene therapy has succeeded not only with local injections in the inner ear but also shows great potential in systemic rare diseases requiring systemic administration. Taking Transthyretin Amyloidosis (ATTR) as an example, this is a severe, progressive, and life-threatening disease caused by the misfolding of the TTR protein (primarily produced in the liver) and its abnormal deposition as amyloid material in tissues.
 

Accuredit Therapeutics (Suzhou) Co., Ltd.​ received U.S. IND approval for its self-developed product ART001 targeting Transthyretin Amyloidosis (ATTR), making it the first non-viral vector-based in vivo gene editing drug from China to receive U.S. FDA clinical trial authorization. ART001 is also the first non-viral vector-based in vivo gene editing drug in China to enter human clinical trials (IIT). This U.S. FDA IND approval makes ART001 the only product in its class globally to receive clinical trial authorization from both China and the United States.
 

In the field of neuromuscular diseases, gene editing therapy has also taken a key step. Taking Duchenne Muscular Dystrophy (DMD) as an example, this is an X-linked recessive genetic disorder caused by mutations in the DMD gene. The mutation prevents patients from producing normal dystrophin—a protein crucial for maintaining the stability of muscle cell membranes. Due to the lack of this protein, patients' skeletal and cardiac muscles suffer continuous, progressive damage, typically losing the ability to walk entirely around the age of 12.
 

Suzhou Genassist Therapeutics Co Ltd.​ received U.S. FDA approval for the Investigational New Drug (IND) application for its first-in-class gene editing novel drug GEN6050X for treating Duchenne Muscular Dystrophy. This U.S. FDA IND approval makes GEN6050X injection the first gene-editing DMD candidate drug globally to enter clinical trials. Suzhou Genassist Therapeutics Co Ltd. is planning global clinical studies for GEN6050X.
 

MingCeler Biotech, as a drug development partner for Accuredit Therapeutics (Suzhou) Co., Ltd.​ and Suzhou Genassist Therapeutics Co Ltd., is proud and honored to participate in the R&D process. MingCeler Biotech​ has developed several rare disease mouse models using its self-developed TurboMice™ technology, such as GJB2 deafness mice, transthyretin amyloidosis mice, and Duchenne muscular dystrophy mice.
 

TurboMice™ technology overcomes the technical challenges of long mouse model generation cycles and low success rates for complex models, enabling editing at nearly any target gene locus. It can generate complete homozygous gene-edited mouse models directly from embryonic stem cells in as little as two months. MingCeler Biotech​ is currently focusing on the layout of rare disease mouse models and can rapidly customize various mouse models according to client needs. In addition, MingCeler Biotech​ has self-developed Lamin A mice to aid rare disease research. Inquiries are welcome!