29 January 2021

4 Companies Revolutionising Rare Disease Treatment.

By Harry Aaronson By Harry Aaronson

When grouped together, rare diseases are not that rare.

According to the National Institutes of Health (NIH), one in 10 Americans have some form of rare disease. Despite their prevalence, only 5% have an approved treatment option – which means there’s a huge number of patients not receiving treatment.

Thanks to advances in science, biopharmaceutical industry researchers are overcoming multiple obstacles and making great progress to address this.

Since the enactment of the Orphan Drug Act in 1983 (which incentivises research and development for rare diseases), more than 770 medicines have been approved by the FDA and hundreds more are in the biopharmaceutical pipeline.

Working as a recruiter who serves the rare disease space, I can see there’s so much great work being done. Knowing this, I wanted to share with you some of the innovative companies that are trying to make a real difference for patients with an unmet need.

The US-based biopharmaceutical, Asklepion Pharmaceuticals, is focused on therapy development for rare paediatric diseases without viable treatments.

The company has received most of its recent attention for its work on citrulline, which is Asklepion’s leading therapy candidate for acute lung injury induced by cardiopulmonary bypass surgery (CBP).

CPB is received by patients with a congenital heart defect and involves a machine temporarily taking over the function of the heart and lungs for surgery to maintain the circulation of blood and oxygen. The operation can lead to damaged lung tissue and blood vessels, potentially leading to significant postoperative problems.

Currently, treatment to these types of injury is reactive – occurring post-surgery when the patient has already developed complications. But Asklepion is changing the game. The company’s Research IV Citrulline, which completed Phase III clinical trial enrolment in July 2019, focuses on how citrulline can prevent these injuries from happening during surgery.

It’s suggested that citrulline supplementation during surgery could increase plasma citrulline and arginine concentrations, resulting in better post-surgery outcomes. I’m excited to see what happens in this trial, as it could make a big difference to patients’ lives. 

Staying in the US, Amicus Therapeutics is focused on discovering, developing and delivering high-quality medicines for people living with rare metabolic diseases.

Inherited metabolic disorders are genetic conditions that result in metabolism problems – issues with the body converting or using energy. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, which have varying symptoms, treatments and prognoses.

Amicus has produced an indicated for the treatment of adults with Fabry disease (an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase) and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

This indication, Galafold, has received accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Any continued approval for this indication may be contingent upon verification and description of its clinical benefit in confirmatory trials.

Galafold isn’t all Amicus is up to. The innovative company also has an investigational enzyme replacement therapy (AT-GAA) in late-stage development for the treatment of Pompe disease, plus a robust gene therapy pipeline and growth platform for lysosomal storage disorders.

With a footprint that spans 27 countries, Amicus Therapeutics is a company with the firepower to make a big difference for rare disease patients. It just needs to keep innovating.

Chinook Therapeutics is another US visionary looking to change the lives of patients with rare diseases. The clinical-stage biopharmaceutical is dedicated to discovering, developing and commercialising precision medicines for rare, severe chronic kidney diseases.

Chronic kidney diseases have a lack of effective treatments, which often leads to dialysis, transplantation and high costs to healthcare systems. In the US alone, kidney diseases affect an estimated 37 million people and account for over $120 billion in annual costs.

Chinook is looking the address this issue. Its lead clinical program, atrasentan, is a potent and selective, small molecule inhibitor of the endothelin A receptor for the potential treatment of IgA Nephropathy (IgAN) and other proteinuric glomerular diseases.

This year, the company plans to initiate a phase 3 trial (ALIGN) in patients with IgAN at high risk of kidney function decline and a phase 2 basket study (AFFINITY) in additional patient populations of proteinuric glomerular disease patients.

Chinook Therapeutics is also involved in some exciting work focused on BION-1301. This is being evaluated for the treatment of IgA nephropathy, with preclinical studies demonstrating that BION-1301 binds to a specifically defined epitope on APRIL which results in complete blockade of APRIL-induced receptor activation.

The US company is also studying CHK-336 which Chinook describes as a first-in-class, liver-targeted, oral small molecule LDHA inhibitor being developed for the treatment of hyperoxalurias. In addition, Chinook is conducting research programs in polycystic kidney disease and other rare, severe chronic kidney diseases.

While Chinook, Amicus and Asklepion are all innovating in their own specialist areas, BioMarin seems to be taking on the entire world of rare diseases which can’t go unmentioned in this article.

The company offers the only available treatment for Morquio A syndrome (MPS IVA) and the first FDA-approved treatment for PKU (phenylketonuria).

BioMarin also has treatments for mucopolysaccharidosis VI (MPS VI), as well as Hurler and Hurler-Scheie forms of mucopolysaccharidosis I (MPS I) and the Scheie form, plus medication for paediatric patients with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2).

The BioMarin pipeline is impressive too.

The company has recently completed its GENEr8-1 study, which was the largest global Phase 3 study for gene therapy in any indication. This involved 134 participants and studied valoctocogene roxaparvovec, an investigational gene therapy for the treatment of adults with severe haemophilia A. 

The company has also announced positive results from another Phase 3 study, in which children with Achondroplasia had benefitted from being treated with vosoritide. The treated children demonstrated a cumulative height gain of 3.52 cm in year two of the study, compared to the untreated children.

While there’s so much still to be done for patients of rare diseases, it’s fantastic to see the work being done by businesses like BioMarin, Chinook, Amicus and Asklepion to address this unmet need. As biopharmaceutical researchers continue to innovate and leverage new technologies and the growing scientific understanding of many rare diseases; I expect more ground-breaking therapies to be discovered.

If you have any feedback about this article, please get in touch by emailing Harry.Aaronson@lifesci-cm.com. I’d be really interested in what you have to say. 

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Harry Aaronson

Harry is a global executive search consultant working in the Biotech and Pharmaceutical market. He specialises in striking up excellent long-term relationships with both candidates and clients alike. Harry is very passionate about innovative products within his market and enjoys sharing these insights with his vast global network. 


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