Italian biotech, Genesipre’s investigational gene therapy GENE202 has been granted Orphan Drug Designation by both the US Food and Drug Administration (FDA) and the European Commission (EC).
The therapy is being developed to treat methylmalonic acidemia (MMA), a rare and severe pediatric metabolic disorder with no currently approved treatments.
GENE202 is an in vivo, off-the-shelf gene therapy that utilizes the company’s proprietary Immune Shielded Lentiviral Vector (ISLV) platform. The therapy is designed to deliver a functional copy of the human methylmalonyl-CoA mutase (MMUT) gene intravenously. Genespire noted that the shielding technology aims to evade detection by the immune system, potentially improving safety and efficacy. If successful, it would enable lifelong production of the needed enzyme directly from the patient’s liver.
Methylmalonic acidemia is a genetic disorder most often caused by mutations in the MMUT gene. This leads to the toxic accumulation of methylmalonic acid in the body, causing progressive damage to the brain, liver, kidneys, and other organs. The disease results in high morbidity and significantly reduced life expectancy. “This important news highlights the huge unmet need of MMA patients and their families,” said Dr. Lucia Faccio, CEO of Genesipre.
Incentives for Development
Orphan drug designation is granted for therapies targeting rare, life-threatening conditions. In the US, it provides incentives such as seven years of market exclusivity post-approval, tax credits, and fee waivers. In the EU, it offers ten years of market exclusivity and regulatory fee reductions. This status aims to encourage the development of treatments for rare diseases like MMA.
Genesipre, a spin-out of the San Raffaele Telethon Institute for Gene Therapy, is initially focusing its ISLV platform on inherited metabolic diseases. GENE202 represents the company’s lead candidate and a key proof point for its broader gene therapy platform.
The company raised €46.6 million (~$52 million) in a Series B round in September 2024. The funding was co-led by Sofinnova Partners, XGEN Venture, and CDP Venture Capital through its Large Venture Fund, forming a strong syndicate with Indaco SGR.
Interest in Gene Therapies
There has been growing interest in gene therapies. Last month, Regeneron Pharmaceuticals and Tessera Therapeutics entered a global collaboration to jointly develop and commercialize TSRA-196, an investigational gene editing therapy designed as a one-time treatment for alpha-1 antitrypsin deficiency (AATD). The deal is valued at about $275 million.
Under the agreement, the companies will split worldwide development costs and future profits for TSRA-196 equally. Tessera will receive $150 million from Regeneron, comprising an upfront cash payment and an equity investment.
In November 2025, European biotechnology company AAVantgarde Bio successfully closed a $141 million Series B financing round. The funds will be used to accelerate the company’s clinical programs targeting Stargardt disease and Usher syndrome type 1B, both inherited retinal diseases (IRDs).
In February 2025, Fuse Vectors has raised $5.2 million in pre-seed financing to “revolutionize gene therapy development with its cell-free viral vector technology”.
