Emerging Treatments

There are no cures for MPS and ML, and there are only a handful of approved treatments. However, there are a number of emerging treatments and therapies currently in development at the following companies:

Abeona Therapeutics: Abeona is developing next generation adeno-associated viral (AAV)-based gene therapies for MPS III (Sanfilippo syndrome), which involves a one-time delivery of a normal copy of the defective gene to cells of the central nervous system with the aim of reversing the effects of the genetic errors that cause the disease.

Eloxx Pharmaceuticals: ELX-02 is a translation read-through inducing drug (TRID). Read-through therapy is a treatment strategy for genetic diseases caused by nonsense mutations to increase translation and restoring activity of the mutated proteins.

Esteve: ESTEVE and the Universitat Autònoma de Barcelona (UAB) created a promising platform of gene therapy projects with the addition of two new therapies for Sanfilippo B (EGT-201) and Hunter syndromes (EGT-301).

Immusoft: ISP™ therapy strikes a balance between the benefits of a HSCT, and risk profile of ERT. Despite the risks, HSCT has the ability to halt progression of the neurological deficit and prevent premature death due to heart or liver disease. An ISP™-based treatment for MPS I is less risky because it uses the patient’s own cells, doesn’t require myeloablative chemotherapy,and can be turned off once administered. Immusoft is currently filing regulatory documentation to support a Phase Ia/Ib clinical trial to treat MPS I with an ISP™ cell therapy product.

MeuSix: The MeuSIX consortium plans to conduct a multicenter phase 1/2 clinical trial to investigate the safety and efficacy of AAV-mediated gene therapy in patients with MPS VI. An orphan drug designation (ODD) has been obtained from both the European Medicinal Agency and the US Food and Drug Administration for the MPS VI therapeutic AAV vector.

Nationwide Children’s: Dr. Haiyan Fu’s team in the Center for Gene Therapy has developed a systemic gene delivery approach to restore the activity of the enzyme (α-N-acetylglucosaminidase) in the central nervous system and somatic system, showing functional benefits in treating MPS IIIB I mouse model.

Regenexbio: RGX-111 is a product candidate for the treatment of Mucopolysaccharidosis Type I (MPS I), which is designed to use the AAV9 vector to deliver the human α-l-iduronidase (IDUA) gene to the central nervous system (CNS). The company plans to file IND for RGX-111 for the treatment of MPS I in mid-2017 and expect to begin enrollment in a Phase I/II clinical trial in the second half of 2017. RGX-111 has received orphan drug product and rare pediatric disease designation from the FDA.

Sangamo Therapeutics: SB-318 (MPS I) and SB-913 (MPS II) are designed to provide stable, continuous production of the enzymes IDUA (MPS I) or IDS (MPS II) for the lifetime of the patient. Sangamo’s approach is designed to enable the liver to permanently produce circulating therapeutic levels of a corrective enzyme product.

Shire: Planning a study to obtain blood samples from MPS II patients who completed Shire study HGT-ELA-038 and to confirm the suitability of such blood samples for validation of the CRIM assay. If the samples are suitable, the CRIM status will be correlated with various clinical parameters data collected in HGT-ELA-038.