Five Biotechs Poised to Advance Their Rare Disease Programs in 2020

by Steven Surdez | | January 29, 2020

On the cusp of rare disease month, we’re checking in with Maryland biotech companies at the forefront of rare disease research

February is Rare Disease Awareness Month, a month-long celebration focused on the suffering and triumphs of patients and their families stricken by rare diseases culminating on February 29th – International Rare Disease DayThe rapidly developing cell and gene therapy fields in recent years have led to a rare disease R&D boom of sorts, with an estimated 800 rare disease-focused clinical development projects currently in process. The biotech industry sees a new window for improving rare disease patient’s lives and potentially curing rare diseases that impact one in ten American and an estimated 400 million people globally.  

The Biohealth Capital Region (BHCR) is at the leading edge of the rare disease market with companies like American Gene TechnologiesREGENXBIOCerecorAsklepion Pharmaceuticals,Lediant, and others advancing their pipelines towards rare disease treatments and cures. The region’s robust rare disease sector also includes a host of companies that support rare disease research and development like Jeeva Informatics, GeneDx, Aperiomics and HemoShere among others. In short, the portfolio of rare disease companies and growing support ecosystems make the BHCR a global hub for rare disease R&D.  

”With Maryland already housing the largest number of Centers of Excellence for the rare disease community, the world travels to us. Roughly speaking, 50% of rare disease patients are children who will never see their tenth birthday and we need this number to change. Currently, Maryland is on the radar to be the next top biotech state and as a mother of two rare disease patients, there is zero time to wait,”  stated Lydia Seiders, an independent global strategic advisor for the rare disease community and volunteer state ambassador for the National Organization for Rare Disorders’ (NORD) Maryland Rare Action Network. 

Every biotech investing in and pursuing more effective rare disease treatments and potential cures understands Seiders’ urgency. Let’s take a look at some of the leading companies in the BHCR and what we might expect in 2020 from the rare disease programs in their pipelines.

Here is a snapshot of five leading companies and their rare disease pipelines.

American Gene Technologies (AGT), Rockville, MD

American Gene Technologies is a cell and gene therapy company that utilizes a proprietary lentiviral platform to develop potential treatments for liver cancer, Phenylketonuria (PKU), HIV and inherited genetic disorders. AGT’s novel lentiviral platform has enabled the company to develop, test and bank thousands of lentiviral vectors, which can then be matched to develop treatments for new target diseases, including orphan/rare diseases like PKU as well as diseases with larger patient populations.

PKU is an inherited, monogenetic disease that causes excess accumulation of the amino acid phenylalanine (Phe), which can reach toxic levels in the blood without strict dietary control. Children born with PKU (PKU occurs in approximately 1 in every 13,500 births) can suffer brain and organ defects if not placed on a special diet and adults can suffer neuropsychiatric impairments including poor behavioral restraint and limited executive function with a high risk of self-injury.

AGT is committed to curing PKU via its proprietary lentiviral platform. The company received FDA Orphan Drug Designation in 2018 and is progressing its PKU therapy toward the clinic. 

REGENXBIO, Rockville, MD

REGENXBIO is a leading clinical-stage biotechnology company developing gene therapies for retinal, neurodegenerative and metabolic diseases. The company’s proprietary NAV Platform, which was invented to discover next-generation adeno-associated viral (AAV) vectors to propel the discovery of new therapies across a wide range of disease areas, including rare/orphan diseases. REGENXBIO has exclusive rights to more than 100 novel AAV vectors and more than 100 patents and patent applications for AAV vectors worldwide.

REGENXBIO currently has 13 clinical-stage products and has 20 partnered programs. One of their out-licensed programs delivered an important milestone for the company, and for the rare disease community. The FDA approval of Avexis’ ZOLGENSMAⓇ, which was developed from REGENXBIO’s NAVⓇ Technology Platform, became the first cure for spinal muscular atrophy (SMA) and a monumental triumph of the use of gene therapy for the rare disease field. SMA is a fatal childhood neuromuscular disease caused by a mutation in a single gene. 

The company’s pipeline includes several rare disease candidates.

RGX-121 is a product candidate for Hunter Syndrome (Mucopolysaccharidosis Type II), which is a rare, X-linked recessive disease that causes developmental delay and developmental regression in children. In December 2019, the company announced that it had successfully advanced the clinical safety and efficacy testing into the second cohort of patients at a higher dosage level. Interim data on the second cohort should be released by approximately mid-2020. The first cohort of dosed patients resulted in positive safety and efficacy outcomes, including “a meaningful and sustained reduction in heparan sulfate suggesting that the gene therapy can potentially restore intracellular activity of the I2S enzyme, as well as the early signs of neurocognitive stability that have been observed,” stated Steve Pakola, M.D., Chief Medical Officer of REGENXBIO. 

RGX 501 is a therapy being developed for the Treatment of Homozygous Familial Hypercholesterolemia (HoFH), which impacts approximately 11,000 patients globally.

REGENXBIO previously announced the completed dosing of an expanded Cohort 2 in Phase I/II trial of RGX-501 including steroid prophylaxis. Per protocol, patients received at least a 13-week steroid treatment. No serious adverse effects or significant elevations in liver enzyme levels were reported in the expanded Cohort 2. REGENXBIO plans to assess low-density lipoprotein (LDL-C) levels in the expanded Cohort 2 after all patients have completed their steroid treatment and expects to provide interim data in the first half of 2020.

REGENEXBIO is also working to advance RGX-181, which received FDA Rare Pediatric Disease and Orphan Drug Designations as a treatment candidate for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease. The company anticipates submitting an investigational new drug (IND) application to the U.S. Food and Drug Administration (FDA) in the second half of 2020 for RGX-181 to enable initiation of a first-in-human clinical trial for children with CLN2 disease.

RGX-111 is REGENEXBIO’s potential treatment for another rare disease called Mucopolysaccharidosis Type I (MPS I), a rare, recessive genetic disease that can cause hydrocephalus, spinal cord compression and cognitive impairment. Recruitment, screening, and additional site activations are ongoing in Phase I clinical trials evaluating RGX-111 for the treatment of MPS I. RGX-111 has received orphan drug products, rare pediatric disease and Fast Track designation from the FDA. A program update will be available in the second half of 2020.

REGENXBIO’s pipeline is representative of the balanced approach many bioscience companies strive for with a focus on rare disease and potential blockbuster treatments (WET AMD). 

Cerecor, Inc. (CERC), Rockville, MD

Cerecor, Inc. is a publicly-traded biotechnology company focused on developing innovative therapies for Orphan Diseases and ultra-rare pediatric diseases. Founded in 2011, the company has brought numerous prescription medicines, prescription medical devices, and dietary supplement products to the market. Cerecor’s pipeline includes a host of rare disease treatments in the early stages of development. 

It’s leading pediatric treatment is CERC-801, an ultra-pure oral formulation of D-galactose currently in development for the treatment of phosphoglucomutase 1 (PGM1) deficiency, also known as PGM1-CDG, which is an inherited genetic disorder with wide-ranging symptoms. This potential treatment is in Phase I clinical trials and is a pediatric program with an expedited 505(b)(2) pathway designation. 

Other pediatric rare diseases being targeted by Cerecor include the rare, congenital disorder MPI-CDG, which is in Phase I pediatric trials with an expedited 505(b)(2) pathway designation; Leukocyte Adhesion Deficiency Type II (LADII), also known as SLC35C1-CDG, which is in its IND-enabling phase; and the ultra-rare mitochondrial DNA depletion syndrome (MDS), also known as Deoxyguanosine Kinase (DGUOK) deficiency, which is also in the IND-enabling phase. 

Asklepion Pharmaceuticals, Baltimore, MD

Asklepion Pharmaceuticals is a biopharmaceutical company that is exclusively focused on rare disease therapy development, specifically for rare pediatric diseases without viable treatments. The company has shifted its focus exclusively to pediatric rare disease in recent years. Asklepion was founded in 2006 in an effort to commercialize a 15-year academic program focused on developing cholic acid for inborn errors of bile acid metabolism, which is a rare genetic disorder. 

Its leading therapy candidate is for acute lung injury induced by cardiopulmonary bypass surgery (CBP), which recently completed Phase III clinical trial enrollment in July 2019. Cardiopulmonary bypass surgery can damage lung tissue and blood vessels, which can lead to significant postoperative problems. Asklepion’s treatment is unique in that it is preventative rather than remedial. By intravenously administering the protein building block L-Citrulline pre-surgery, Asklepion believes that postoperative complications caused by CBP.  The treatment received FDA Orphan Drug Designation in 2017. The company is also starting a clinical trial for Sickle cell disease (acute setting) in Q2/Q3 of 2020.

Leadiant Biosciences, Gaithersburg, MD

For more than three decades, iterations of the company now known as Leadiant Biosciences has displayed an unwavering commitment to treating and helping ADA-SCID patients and their families. “Bubble Boy Disease”–or adenosine deaminase deficiency-severe combined immunodeficiency (ADA-SCID)–is an ultra-rare, inherited autosomal metabolic disorder that severely compromises the immune system and can be fatal if untreated. 

In October 2018, Leadiant Biosciences, formerly known as Sigma-Tau Pharmaceuticals, received FDA approval for Revcovi™, which delivers improved treatment for patients living with ADA-SCID. Approximately 1 in 200,000 to 1,000,000 newborns are impacted worldwide, representing about 15% of all SCID cases (Source: NIH). As an ultra-rare disease, the patient population is minuscule: Leadiant currently treats 35 ADA-SCID patients in the U.S. and seven in Canada.

Headquartered in Gaithersburg, Maryland, Leadiant’s roots run deep in the treatment of rare and ultra-rare diseases. Leadiant Biosciences, Inc. is a subsidiary of Leadiant S.p.A., which traces its roots back to Sigma-Tau, a family-owned pharmaceutical company founded in Italy by Emilio and Dr. Claudio Cavazza in 1957. Sigma-Tau Pharmaceuticals was a rare disease treatment pioneer, receiving the fourth orphan drug designation ever in 1984. 

Today, Leadiant’s sole focus is on researching, developing and distributing novel treatments for patients afflicted with some of the rarest diseases in the world. Revcovi’s recent FDA approval for the treatment of ADA-SCID gives Leadiant eight rare disease products on the North American (U.S. and Canada) market. With a deep commitment to advancing a diverse pipeline of new drugs and therapeutic candidates, Leadiant has seven clinical-stage programs in their pipeline. The two programs in phase III trials include LB101 for the treatment of Cerebrotendinous Xanthomatosis (CTX), and LB301 for the treatment of GNE Myopathy.

There are several other rare disease-focused BHCR companies ready to emerge. Elixirgen Therapeutics of Baltimore, MD is a biotechnology company seeking cures through stem cell biology. It’s pipeline currently has four rare disease therapies in its pipeline, all of which are in the early stages of development. The company recently announced a $4M Series A round. Another Baltimore-based biotech, Abri Science, recently launched in September of 2019. Abri Science is focused on developing treatments for PKU with licensed technology. Since its launch, Abri Science has been awarded a $225,000 Small Business Technology Transfer (STTR) Phase I grant from the US National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

The BHCR is rapidly becoming a global hub for rare disease drug development. A host of BHCR companies, including many cell and gene therapy companies, have made rare disease drug development a key component of their pipeline strategies. 

BioBuzz will be featuring rare disease stories throughout Rare Disease Awareness month. And we’ll be keeping close tabs on these rare-disease focused companies as we move deeper into 2020.