10 biotech companies making a difference in rare diseases

Photo/Rare Disease Day
Logo Rare Disease Day

February 28 is Rare Disease Day, which looks to raise awareness of rare diseases and bring about change for patients and families living with them.

The event also brings attention to the need for improved access to diagnosis, as well as the need to develop more treatments to tackle a broader range of diseases. There are currently many biotech companies around the world working on and specializing in developing therapies and treatments for people with rare diseases.

Research and development involving rare diseases has increased over the past few years, largely thanks to major advances in technology and novel therapeutic platforms that can target the root cause of these disorders. Today, there are more than 700 clinical trials in progress hoping to create approved medicines for rare diseases. 

There have already been many success stories involving some of the biotech companies listed in this article, including treatments for rare diseases such as paroxysmal nocturnal hemoglobinuria (PNH), congenital athymia and immunoglobulin (IgA) nephropathy. 

Here are 10 biotech companies making waves with their work on rare diseases.

Table of contents


    Headquarters: Waltham, U.S.
    Founded: 2009

    Apellis mission is to develop life-changing treatments for a broad range of debilitating diseases spanning ophthalmology, rare disease and neurology by controlling a part of the immune system called the complement cascade, which plays a crucial role in defending against common pathogens. However, the cascade can sometimes be overactivated and attack healthy cells and tissues as well. To try and prevent this from happening, the company specifically targets the central protein, C3, because it addresses all three activation pathways that can cause and drive serious diseases.

    The targeted C3 approach has already provided Apellis with two success stories, resulting in two FDA-approved medicines: Syfovre, which was approved this month and is used to treat GA, and Empaveli, which was the company’s first U.S. Food and Drug Administration (FDA) approved medicine in 2021 for the rare disease PNH.

    PNH is life-threatening and is characterized by the premature breaking apart of red blood cells (hemolysis) due to the surface of a person’s blood cells lacking a shield of proteins that prevent it from being attacked by the complement cascade. Empaveli works by preventing C3 from splitting into C3a and C3b, therefore helping to stop both intravascular hemolysis and extravascular hemolysis. 

    The biotech company also has several ongoing phase 2 and 3 clinical trials across four other rare diseases, including amyotrophic lateral sclerosis (ALS), immune complex membranoproliferative glomerulonephritis (IC-MPGN) and complement 3 glomerulopathy (C3G), coronary artery disease (CAD) and post-hematopoietic stem cell transplantation thrombotic microangiopathy (HSCT-TMA).


    Headquarters: Cary, U.S.
    Founded: 2015

    Biopharmaceutical company Enzyvant is part of Japanese-based Sumitomo Biopharma Limited and is a combined company after the merger of Enzyvant Therapeutics and Altavant Sciences last year. Its focus area is around rare diseases and it prioritizes connections with patients, caregivers, academia, industry, advocacy, associations and the government in order to accelerate medicines that can transform people’s lives.

    In its quest for creating transformative medicines, the company’s main research areas involve the intersection of T-cell biology and regenerative medicine, reducing excessive serotonin signaling that contributes to disease, and regulating inflammatory response within the lungs.

    Enzyvant has already successfully researched the intersection of T-cell biology and regenerative medicine, resulting in its FDA-approved drug RETHYMIC, which helps children with congenital athymia. In this condition, children are born without a thymus, and have to fight off potential life-threatening infections. The thymus produces T cells, which fight infections, especially viral infections. 

    The company is now turning its attention to developing treatments for people with rare respiratory conditions and is currently working on a phase 2 study to explore new ways to improve the effects of PAH.

    Travere Therapeutics

    Headquarters: San Diego, U.S.
    Founded: 2011

    IgA nephropathy is a rare disorder that affects the kidneys and happens when immunoglobulin A (IgA) settles there. It is usually treated using ACE inhibitors or an ARB but, this month, San Diego biotechnology company Travere Therapeutics had the first-of-its-kind non-immunosuppressive drug, Filspari, approved by the FDA to treat the disease.

    Filspari works by blocking the endothelin-1 and angiotensin II receptors, which are two critical pathways in the progression of IgAN. It is designed to be used on patients who are at risk of rapid disease progression that will likely result in end-stage renal disease. The FDA granted an accelerated approval for the drug on the basis that it is shown to reduce proteinuria, therefore reducing the risk of kidney failure. However, it is yet to be seen whether it also slows kidney function decline and the phase 3 PROTECT study for Filspari is still ongoing with the aim of proving that it does. 

    Biotech company Travere Therapeutics specifically focuses on finding treatments for rare diseases and its therapeutic areas include IgAN, as well as Alagille syndrome (ALGS), homocystinuria (HCU), bile acid synthesis disorders (BASD), cystinuria, peroxisome biogenesis disorder in teh Zellweger spectrum (PBD-ZSD), cerebrotendinous xanthomatosis (CTX) and focal segmental glomerulosclerosis (FSGS). The company’s pipeline already includes phase 3 studies for both FSGS and CTX, as well as a phase 2 study for HCU and a preclinical trial for ALGS. 


    Headquarters: Paris, France
    Founded: 2007

    Charcot-Marie-Tooth (CMT) encompasses a group of inherited, chronic peripheral neuropathies that are progressive and debilitating, resulting in the affected nerves slowly degenerating. It affects 1 in 2,500 people. CMT1A is the most common type of CMT, for which there are currently no therapeutic treatments available. 

    However, advanced clinical-stage French biopharmaceutical company Pharnext, which works on developing novel therapeutics for neurodegenerative diseases, is trying to change that. Its PXT3003 treatment for CMT1A has entered its pivotal phase 3 clinical study, the PREMIER trial, to confirm its efficacy and safety. 

    In preclinical trials, PXT3003 was shown to suppress PMP22 production, which is critical as CMT1A is caused by the duplication of this gene, leading to an overexpression of the PMP22 protein and the failure to produce normal myelin. 

    The company successfully completed the enrollment of 387 patients for its PREMIER trial in May 2022 in 52 centers worldwide and the announcement of topline results is expected in Q4 2023. 

    Alchemab Therapeutics

    Headquarters: London, U.K.
    Founded: 2019

    Alchemab Therapeutics is a biotechnology company working on harnessing the power of the immune system to create the next generation of antibody therapeutics for hard-to-treat diseases that do not yet have disease modifying therapies. 

    Through studying the naturally-occurring antibody response in individuals who are resistant to or have overcome a certain disease, the company aims to develop antibodies into therapies for people who don’t have the same protective response. 

    At the end of last year, the biotech company was awarded a £1.7m ($2 million) grant from Innovate UK’s Biomedical Catalyst 2022 funding competition to accelerate the development of a disease-modifying therapy for Huntington’s disease. The disease is classed as rare and is an inherited progressive neurodegenerative disorder caused by a defective gene on chromosome 4, resulting in the gradual breakdown of neurons in the brain. There is currently no cure or treatment to help slow down the disease’s progression. 


    Headquarters: Geneva, Switzerland
    Founded: 2017

    iOnctura’s focus is around cancer and its mission is to find therapies for difficult-to-treat tumors burdened by stroma and immune mediated resistance. To do this, the company identifies targets that play crucial roles in tumor survival pathways and develops selective therapies that simultaneously target multiple tumor survival mechanisms with a single drug. 

    iOnctura currently has a pipeline of precision molecules targeting different cancer survival pathways, including IOA-244, which is in phase I/II of clinical development, IOA-289, which is in phase 1b, and IOA-237, which is still in preclinical studies.

    Given it’s in phase I/II of clinical trials, IOA-244 is the company’s lead cancer drug and is being developed as a therapy for solid and hematologic malignancies like uveal melanoma, a rare type of cancer that begins in the cells that create melanin in the uveal tract of the eye. IOA-244 works by inhibiting PI3Kδ, which is a signaling pathway that is one of the most common dysregulated pathways in cancer. 

    IOA-244 was granted an Orphan Drug Designation by the FDA in January after it showed promising signs of clinical activity in patients with uveal melanoma.

    PTC Therapeutics

    Headquarters: South Plainfield, U.S.
    Founded: 1998

    PTC Therapeutics is another biotech company that specifically focuses on finding therapies for rare diseases and comes well-equipped with a 220,000 square-foot Gene Therapy Center of Excellence facility in Hopewell, New Jersey. This provides the company with enough space and cutting-edge technology for research, testing, and plasmid DNA and adeno-associated virus (AAV) manufacturing, so it can progress its pipeline.

    Last year, the European Commission granted marketing authorization for Upstaza, PTC’s drug for aromatic L-amino acid decarboxylase (AADC) deficiency, which is an ultra-rare genetic disorder that affects the nervous system and causes problems with walking, eating, behavior and sleep. Upstaza was the first approved disease-modifying treatment for the deficiency, as well as the first gene therapy to be directly administered into the brain. 

    More recently, PTC’s drug for Duchenne muscular dystrophy (DMD), Translarna, received National Institute for Health and Care Excellence (NICE) approval. DMD is another rare genetic disorder and is characterized by progressive muscle degeneration and weakness.

    The company also has other ongoing clinical studies expected to make progress this year, including the APHENITY phase 3 trial of sepiapterin to treat phenylketonuria (PKU), the MIT-E phase 2/3 vatiquinone trial for mitochondrial disease associated seizures, and the MOVE-FA phase 3 vatiquinone trial for Friedreich ataxia. 

    Rocket Pharmaceuticals

    Headquarters: Cranbury, U.S.
    Founded: 2015

    Gene therapy is a rapidly-evolving treatment for patients with rare diseases: More than 80% of rare diseases are caused by a defect in a single gene. Therefore, this type of therapy has the potential to correct any underlying genetic defects by replacing or changing the defective gene, which can lead to cures rather than simply treating symptoms.

    Rocket Pharmaceuticals is a late-stage biotechnology company advancing an integrated pipeline of genetic therapies for rare life-threatening pediatric diseases with high unmet need. It makes use of AAV and LV (lentiviral) vectors and selects indications driven by a single gene in specific types of cells before directly targeting the genetic mutation within the affected cells with the therapies it develops. 

    The company has just received a regenerative medicine advanced therapy designation from the FDA for its AAV based RP-A501 therapy for the treatment of Danon disease, which is a rare and fatal skeletal and cardiac genetic condition for which there are currently no disease-altering therapies available.

    Also in Rocket’s pipeline is RP-L201, which is in phase 2 of clinical trials and is being developed to treat LAD-I, another rare and fatal genetic disorder characterized by immunodeficiency that leaves the body vulnerable to recurrent and severe infections. 


    Headquarters: Barcelona, Spain
    Founded: 2012

    SpliceBio is a biotechnology company looking to develop the next generation of gene therapies by overcoming the capacity limitations of AAV vectors, which can only package 4.7 kilobases of genetic material. To achieve this, it instead harnesses the potential of inteins; a family of proteins that carry out a process known as protein splicing, which sticks peptides together to form new proteins. By exploiting this process, co-founders Miquel Vila-Perelló and Silvia Frutos were able to develop engineered split inteins for therapeutic use while at Princeton University. 

    Last year the company raised €50 million ($52.7 million) in oversubscribed series A financing, co-led by UCB Ventures and Ysios Capital. The funding will allow SpliceBio to take its lead therapy program in Stargardt disease into the first phase of preclinical trials. Stargardt is a rare genetic retinal disease caused by mutations in the ABCA4 gene that causes vision loss in children and young adults. 

    The ABCA4 gene is too large (6.8kb) for single AAV vectors to package enough genetic material to treat it, which is why SpliceBio’s mission is to try and find a treatment via its Protein Splicing platform. 

    Horizon Therapeutics

    Headquarters: Deerfield, U.S.
    Founded: 2008

    CEO Tim Walbert, who has a rare disease that causes inflammation throughout his body along with chronic pain, joined Horizon Therapeutics with the vision of achieving medical breakthroughs for people with rare, autoimmune and severe inflammatory diseases. 

    The biotech company already has a portfolio of medicines to tackle these types of rare diseases. They include: Actimmune, part of a drug regimen to treat chronic granulomatous disease (CGD); Buphenyl, used to treat urea cycle disorders; Krystexxa, to treat gout; Procysbi, to treat nephropathic cystinosis; Ravicti, to manage urea cycle disorders; Tepezza, to reduce eye bulging and double vision and improve symptoms of thyroid eye disease; and Uplizna, used to treat neuromyelitis optica spectrum disorder (NMOSD). 

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