Rare disease treatments continue to advance alongside gene therapies

By Andre Rickard, The Science Advisory Board contributing writer

January 10, 2022 -- Rare diseases represent an underserved and frequently overlooked area in healthcare. As a result, funding for research in these diseases is often limited. However, many of these diseases are fatal or highly impair a patient's quality of life. According to a recent report from Cell and Gene Therapy Business Outlook, a sister publication of ScienceBoard, some institutions are focusing their efforts in the area of rare diseases.

Avrobio, MedGenome, and the University of L'Aquila are some examples of institutions that are working toward the development of rare disease treatments.

Avrobio and Jasper Therapeutics

Avrobio is a clinical-stage gene therapy company that develops treatments for patients with genetic lysosomal disorders, including Fabry disease and Gaucher disease. Avrobio uses a personalized gene therapy approach to help patients synthesize the missing functional proteins that result in these diseases. Avrobio has entered into a nonexclusive research collaboration with Jasper Therapeutics to evaluate its anti-CD117 monoclonal antibody as a targeted conditioning agent to treat Fabry disease and/or Gaucher disease type 1 when paired with one of Avrobio's lentiviral gene therapies.

The monoclonal antibody, JSP191, blocks stem cell factor receptor signaling to clear hematopoietic stem cells from bone marrow to leave room for genetically modified stem cell transplants in patients with Fabry disease or Gaucher disease.

Financial details of the collaboration were not disclosed; however, it was noted that each company will retain commercial rights to its respective technologies.

MedGenome and Emmes

MedGenome is a genomics-driven research and diagnostics company developing genomic solutions to diseases in the fields of immuno-oncology, diabetes, ophthalmology, and rare diseases. MedGenome possess proprietary solutions for accelerated drug and biomarker discovery, as well as genomic mapping of tumors to support cancer immunotherapies. MedGenome has partnered with clinical research organization Emmes to develop breakthrough treatments for rare diseases using human genomics.

The partnership will enable MedGenome to combine technologies such as bioinformatics and next-generation sequencing with human genetics research to expand treatment options for such diseases. Initially, the collaboration will address hemophilia, Duchenne muscular dystrophy and muscular atrophies, and retinitis pigmentosa.

Financial details of the partnership were not disclosed.

University of L'Aquila (Italy) and SiSaf

The University of L'Aquila is a public research university located in L'Aquila, Italy, with research expertise in the fields of architecture, biology, chemistry, physics, medicine, and biotechnology. New research efforts will involve the investigation of various bone diseases such as osteoporosis, inflammatory bone diseases, and other rare genetic conditions. The University of L'Aquila has entered into a licensing agreement with SiSaf, a drug delivery company focused on RNA therapeutics.

As part of the licensing agreement, SiSaf will develop small interfering RNA (siRNA) using its next-generation, silicon-stabilized hybrid nanoparticles to treat rare autosomal dominant type 2 osteoporosis in adults. The siRNA regulates the expression of a mutant gene expressed by osteoclasts and other cell types responsible for causing this inheritable form of osteoporosis. SiSaf intends to file for orphan drug designation for this therapy.

The licensing agreement will aid in the development of treatments for this therapeutically neglected rare disease. Financial details of the agreement were not disclosed.

Avrobio, MedGenome, and the University of L'Aquila are some of the institutions leading in developments toward rare disease treatments. As of December 2021, the FDA assigned orphan drug designation to only three renal and urinary cell and gene therapies under development. This further emphasizes the gap in the market for development of products to treat rare diseases.

Considering this deficit in the market, companies and healthcare institutions that invest in the development of rare disease treatments will have plenty of space for innovation while also profoundly impacting the lives of the underserved patients who will benefit from these products.

To stay up to date on the latest business happenings in the cell and gene therapy industry, check out Cell & Gene Therapy Business Outlook today!

Jasper, Avrobio to collaborate in gene therapy trials
Jasper Therapeutics and Avrobio have entered a nonexclusive research collaboration to evaluate Jasper's anti-CD117 monoclonal antibody in clinical trials.
Emmes CRO acquires Orphan Reach
Clinical Research Organization (CRO) Emmes, a portfolio company of Behrman Capital, announced it has acquired Orphan Reach, an organization specialized...
Avrobio gets orphan drug nod for Fabry disease gene therapy
Avrobio has been granted orphan drug designation by the European Commission for AVR-RD-01, an ex vivo lentiviral gene therapy that consists of a patient's...
Avrobio expands Hunter syndrome gene therapy program
Avrobio has signed a research and licensing agreement with the University of Manchester in the U.K. to investigate the use of lentiviral gene therapy...
Avrobio gets orphan drug nod for Gaucher disease gene therapy
Avrobio has been granted orphan drug designation for AVR-RD-02, an investigational gene therapy for treatment of Gaucher disease, by the European Commission.

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