PackGene Supports Patient Family-Driven World’s First GM2 AB Variant Gene Therapy Clinical Trial

KUNMING, China – May 24, 2025 –

For most people, a 2.5 mL clear liquid resembles nothing more than water. But for 9-year-old AnAn, it represented something far greater: hope. Inside that small vial were approximately 2×10¹⁴ active gene therapy particles carrying the possibility of changing the course of a devastating disease—and perhaps the future of many families facing rare disorders.

On May 15, 2025, AnAn became the world’s first patient to receive investigational gene therapy for GM2 gangliosidosis AB variant, an ultra-rare neurodegenerative disorder with no approved treatment options. The historic treatment marked not only a scientific milestone, but also the culmination of an extraordinary patient-family-driven effort years in the making.

A Journey Through Uncertainty

AnAn’s symptoms first appeared years earlier. At age four, he began waking at night in distress and developed an unusual sensitivity to sound. Gradually, the signs became more severe—loss of balance, developmental regression, difficulty learning, and worsening motor coordination.

Before diagnosis, AnAn had been a bright child who could recite long passages from memory before age four. But by elementary school, everyday activities became increasingly difficult. Falls became frequent and severe. Once able to run and learn normally, he gradually lost abilities his family had once taken for granted.

After years of searching for answers, genetic testing finally revealed the cause: mutations in the GM2A gene, leading to GM2 gangliosidosis AB variant, one of the rarest forms of inherited neurodegenerative disease. Families confronting the diagnosis often hear the same devastating reality: there is no approved treatment.

For AnAn’s parents, waiting was not an option.

Turning Determination Into Action

Without scientific training or pharmaceutical backgrounds, AnAn’s parents embarked on an extraordinary journey. They connected with physicians, researchers, patient advocacy organizations, and global experts, ultimately helping drive a patient-led development pathway aimed at creating a potential therapy for their son.

The path was filled with obstacles—scientific, regulatory, financial, and emotional. Yet after years of persistence, collaborations came together across academic groups, clinicians, and manufacturing partners to move the program from concept toward clinical reality.

PackGene was honored to contribute to this effort by providing GMP-grade plasmid and AAV manufacturing support, helping transform promising research into clinical material suitable for human administration.

“Speed mattered because every month mattered,” recalled AnAn’s family. For rapidly progressing neurodegenerative disorders, time itself becomes a critical variable.

Recognizing the urgency and significance of the program, PackGene worked closely with collaborators to help accelerate manufacturing timelines and support the transition from preclinical development to clinical application.

The Day Hope Arrived

On treatment day, the gene therapy product—carefully stored and prepared under controlled conditions—was administered through an Ommaya reservoir directly into AnAn’s ventricular system.

For his parents, the moment carried both hope and fear.

No physician could guarantee success. No one could promise outcomes. As with many first-in-human gene therapies, uncertainty remained.

Hours turned into days. Then came encouraging signs.

Within one month after treatment, GM2A protein expression levels increased significantly—temporarily reaching levels comparable to those observed in healthy individuals. Improvements in walking, feeding stability, and overall daily function followed. While later measurements declined from their peak, protein levels remained above pre-treatment baseline.

For AnAn’s family, success was never defined as a cure.

For progressive neurodegenerative diseases, simply slowing decline—or preserving function—can profoundly change quality of life.

Today, AnAn’s sleep quality has improved. Tremors during eating have lessened, and he has regained some ability to feed himself independently—small victories carrying enormous meaning for a family that once feared losing those abilities entirely.

Advancing Hope for Rare Disease Communities

AnAn’s story highlights both the promise of gene therapy and the growing impact of patient-driven innovation in rare disease development. While challenges remain and continued follow-up is essential, his journey demonstrates what can become possible when families, clinicians, researchers, and biotechnology partners unite around a shared mission.

As a reputable CDMO with over a decade of experience supporting cell and gene therapy programs, PackGene is honored to play a role in helping translate scientific advances into opportunities for patients and families urgently waiting for hope.

Behind every therapy is a manufacturing process.

Behind every process is a patient.

And behind every patient is a family refusing to give up.