Best Rare Disease Pharmaceutical Companies

Top 7 Rare Disease Companies

February 28 is Rare Disease Day, and what better day to celebrate the technical, hard work those in the industry constantly churn out for the betterment of all mankind than show some appreciation for the most pioneering companies leading the industry today. The national day of recognition in the field of rare diseases involves a nationwide event, coordinated by EURORDIS and 65+ national alliance patient organization partners, that aims to raise awareness and money for the cause.

Rare Disease Classification

According to the National Institutes of Health (NIH), there are over 7,000 rare diseases that affect between 25-30 million people in the United States. A disease is considered rare when there are fewer than 200,000 patient’s diagnosed with the condition. One of the major, and most obvious challenges when it comes to treating rare diseases is the lack of research and information, since the past provides very little useful documentation on most common instances of rare diseases.

Typically scientists would base their aims largely on a prior knowledge base developed by the many who’ve studied the same/similar topics previously. Unfortunately much of this vital information is unavailable for most rare diseases, which is just one of the first steps in a long line of reasons why these uncommon conditions so often lack the medical care required for treatment.

With a number of deterrents ranging from financial to time constraints, it’s worth taking a moment to really appreciate those companies and organizations that ignore these off-putting factors and still dedicate themselves to the discovery of new and wonderful treatments that are hoped to possess

7 Game-Changing BioTech Companies Treating Rare Diseases

Currently there’s an estimated 700 clinical trials underway. Many previous trials have shown success, and the same is hoped for a good number of the ongoing clinical trials there are still in progress. 7 of the companies responsible for developing these groundbreaking treatments include:

1) PTC Therapeutics

Headquarters: South Plainfield, U.S.; founded: 1998

Therapeutics is a biotech company specializing in therapies for rare diseases. It will be known to some for its fully equipped, state-of-the-art 220,000-square-foot Gene Therapy Center of Excellence facility in Hopewell, New Jersey. The major advantage of this space is that it provides the company with sufficient room to perform all tasks in-house, which dramatically speeds up the pipeline. PTC’s drug for aromatic L-amino acid decarboxylase (AADC) deficiency, a very rare genetic disorder that affects the nervous system and causes problems with gait, eating, sleep, and behavior, was granted marketing authorization from the European Commission, making it the first disease-modifying treatment for AADC.

In addition, the drug Translarna, PTC’s treatment for Duchenne muscular dystrophy (DMD); a highly rare genetic disorder characterized by progressive muscle degeneration and weakness, also received approval from the National Institute for Health and Care Excellence. The company is also entering phase 3 trials of sepiapterin to treat phenylketonuria (PKU), a phase 2/3 vatiquinone trial for mitochondrial disease-associated seizures, and the MOVE-FA phase 3 vatiquinone trial for Friedreich ataxia. 

2) Apellis

Headquarters: Waltham, U.S. / Founded: 2009

Apellis develops life-changing treatments for a wide range debilitating diseases from ophthalmology, neurology and other rare disease. It achieves this by controlling the complement cascade part of the immune system, which plays a vital role in protecting from common pathogens.

The task however isn’t an easy one as the cascade can sometimes over perfom and begin to attack healthy cells. To prevent this the company devides a technique that targets the central protein C3, since it addresses all three activation pathways (classical pathway, MB-lectin pathway, alternative pathway).

This has already lead to the development of two FDA-approved medicines: Empaveli for the rare disease PNH; the company’s first FDA approved medicine in 2021, and Syfovre; approved in 2023 to treat Geographic atrophy (GA).

3) Enzyvant

Headquarters: Cary, U.S. / Founded: 2015

Enzyvant is a part of the Japanese-based Sumitomo Biopharma Limited corporation that merged with Altavant Sciences last year. The collaborative aim is to help accelerate the availability of medicines by prioritizing and improving connections with patients, care givers, academia, advocacy groups, industry and the government.

The company is currently on the quest to create transformative medicines involved in the intersection of T-cell biology, regenerative medicine, reducing excessive serotonin signaling that contributes to disease, and reducing inflammatory response in lungs.

Enzyvant has already successfully presented sufficient research regarding the intersection of T-cell biology and regenerative medicine, which then resulted in the FDA-approving the drug RETHYMIC; a tissue-based treatment that can help children with congenital athymia.

4) Travere Therapeutics

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

Travere Therapeutics develops new treatments for rare kidney disorders known as IgA nephropathy. This condition is usually treated using ACE inhibitors or an ARB. However, the company hopes to utilize the first-of-its-kind non-immunosuppressive drug, Filspari, which has also been approved by the FDA to treat the disease, to provide an alternative and effective way of treating this rare type of renal disease.

In addition, the company focuses on discovering treatments for other rare diseases. The business also wants to help people with Alagille syndrome (ALGS), bile acid synthesis disorders (BASD), cerebrotendinous xanthomatosis (CTX), cystinuria, homocystinuria (HCU), focal segmental glomerulosclerosis (FSGS), and peroxisome biogenesis disorder in the Zellweger spectrum (PBD-ZSD).

5) Pharnext

Headquarters: Paris, France / Founded: 2007

Pharnext is a company attempting to develop a treatments for Charcot-Marie-Tooth (CMT); a group of chronic peripheral neuropathies that are inherited and eventually become progressively debilitating, Reports suggest an estimated 1 in every 2,500 people suffer with the condition, which slowly attacks the nerves and causes them to slowly degenerate.

The company is currently in phase III of clinical studies, the main trial to determine efficacy and safety, for its CMT1A treatments known as PXT3003, and also completed a successful trial of 387 patients throughout 52 centers worldwide.

6) iOnctura

Headquarters: Geneva, Switzerland / Founded: 2017

iOnctura’s main aim is to find solutions for cancer and the notoriously difficult-to-treat tumors due to cases of stroma and the immune-mediated resistance that occurs as cancer cells evolve to evade the effects of traditional treatment.

To do this, scientists identify multiple targets that play crucial roles in the survival of the tumor and develop therapies that have the ability to attack multiple targets simultaneously with a single medication. The company has already presented a pipeline of precision molecules that can target these cancer survival pathways, i.e., the body’s healing response to treatment of the fatal disease.

iOnctura is currently in phase I/II of clinical trials testing its cancer drug, IOA-244, which was granted an Orphan Drug Designation by the FDA in January after showing promising signs of clinical activity in patients with uveal melanoma.

7) Alchemab Therapeutics

Headquarters: London, U.K. / Founded: 2019

Alchemab Therapeutics aims to tackle this problem slightly differently from the others by harnessing the power of the immune system. This is believed to create a next generation of antibody therapeutics that could combat hard-to-treat diseases.

Whilst unconventional compared with others on the list, this approach is certainly no joke, as just last year, the company was awarded a £1.7 million grant from Innovate UK’s Biomedical Catalyst 2022 funding competition to accelerate the development of a disease-modifying therapy for Huntington’s disease. 

Top 7 Rare Disease Companies

More Information on Rare Diseases

In addition to these worldclass companies that are pushing the boundaries of rare disease treatments, there is also a number of great online resources where you can find out more related information, and keep up-to-date with all the recent trends in the medical community. A couple of these excellent resources include:

The National Organization for Rare Disorders: Another great source for all aspects of information regarding rare diseases can be found over at The National Organization for Rare Disorders (NORD) website –

Here’ll you find over 1300 reports containing the everything from the latest news and breakthroughs, to ongoing clinical trials and experimental treatments, as well medications recently approved by FDA that set to, or have already, hit the market.

But perhaps the most comprehensive online resource that lists all known rare diseases is over at the NIH Genetic and Rare Diseases Information Center (GARD) website –


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