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A 4 minute read
November 7, 2019

The National Organization for Rare Disorders (NORD) classifies a rare disease as one that impacts fewer than 200,000 people. But all together, there are around 7,000 rare diseases that affect a whopping 25-30 million U.S. citizens. 

For many years, it was tough to find medical treatment for  rare diseases. Pharmaceutical companies were most invested in producing drugs that would be simultaneously profitable and widely applicable to the U.S. population; rare diseases became known as "orphans" because these companies were less interested in adopting them to develop drug treatments.

To combat this, Congress enacted the Orphan Drug Act of 1983, creating financial incentives to encourage pharmaceutical companies to develop drugs for rare diseases.

Using Definitive Healthcare's commercial claims datasets, let's take a look at some of the more well-known rare diseases—cystic fibrosis, ALS, scleroderma, spinal muscular atrophy, Huntington's Disease, Neuromyelitis Optica, and the Zika Virus—chosen based on research and development investment, treatability, media activity, pharmaceutical competitiveness, and rarity.

Cystic Fibrosis & ALS: highest number of patients and claims 

In 2018, Cystic Fibrosis had the highest number of reported patients—nearly double that of patients with ALS, or Lou Gehrig's disease. This may be because at least 1 in 29 Caucasian-Americans carry the cystic fibrosis gene, and cystic fibrosis is an inherited genetic condition. As the U.S. population grows, it becomes more likely that this genetic disorder is passed on.

ALS is more mysterious, and stems from a number of different factors. According to an NCBI study, it is estimated that the number of ALS patients will increase by 69 percent in the developing world over the next 25 years, which may be a result of the aging population.

Last on the list is Zika, with fewer than 2,000 patients in 2018. This makes sense for three reasons: (1) the symptoms of Zika are similar to those of many other diseases and many cases may not have been diagnosed, (2) there is no specific medicine or vaccine for Zika so medical intervention is not typically available, and (3) the virus is primarily transmitted through infected mosquitoes. 


Fig 1: Definitive Healthcare Commercial Claims diagnosis, procedure, and prescription data, as of 9/27/2019.

And in terms of insurance claims? Of the seven conditions, Cystic Fibrosis saw the most all-payer claims in 2018 at just over 342,000, followed by ALS with 195,000. These numbers are higher than patient counts because patients can have multiple claims for encounters with providers. At the other end, there were fewer than 4,300 claims for Zika Virus.

Cystic Fibrosis & Spinal Muscular Atrophy: highest total charges

With the most claims among these conditions reviewed, Cystic Fibrosis also, unsurprisingly, has the highest commercial claim charges—over $721 million. 

spinal muscular atrophy

Fig 2: Definitive Healthcare Commercial Claims diagnosis, procedure, and prescription data, as of 9/27/2019.

While Spinal Muscular Atrophy ranks third in total overall claims and fourth in the number of patients, it surprisingly has the second highest total charges of these seven conditions. This is potentially due to the complexity of treating the condition.

For instance, in order to diagnose Spinal Muscular Atrophy, patients may require nerve tests, CT and MRI scans, and muscle tissue biopsies. Once diagnosed, the patient would undergo intensive treatments wherein a medical team injects a drug into the fluid around the spinal cord. Including preparation and recovery time, this procedure can last up to two hours and will need to be done several times, followed by another dose every four months.

Most common physician specialty areas 

Of the seven rare diseases covered in this article, four require diagnosis or treatment from a neurologist.



Fig 3: Definitive Healthcare Commercial Claims diagnosis, procedure, and prescription data, as of 9/27/2019.

One interesting outlier: over 86 percent of the 2018 patients for Zika Virus were seen by OB/GYNs. This is likely because the Zika virus can be passed from a pregnant woman to her fetus. Infection during pregnancy can cause a birth defect called microcephaly and other severe fetal brain defects, so it would be important for expecting mothers infected with Zika to see an OB/GYN specialist.

Using commercial claims data to review the rare disease market

When it comes to healthcare claims data, there are two large sectors: the private, commercial insurance side (primarily comprised of those under 65 years old) and the public Centers for Medicare and Medicaid Services (CMS) side, which is primarily comprised of those above 65 years old. In order to get a realistic view of the entire market, it is important to have the ability to review both: the entire scope of U.S. claims data.

Historically, all-payer data has been difficult and time-consuming to access, combine, sort through, and analyze. Using Definitive Healthcare's all-payer commercial claims platform, we were easily able to hone in on and fully understand how individual facilities are treating and caring for patients with rare conditions.

Definitive Healthcare's commercial claims platform provides diagnosis, procedure, and prescription data in the rare disease space to arm our clients with the best market knowledge to research and compete most successfully.

Learn more

Definitive Healthcare's market-leading platform gives users access to a constantly-expanding trove of real-world data—helping them analyze all-payer data on medical and Rx claims associated with nearly 250 million patients across the U.S.

Start a free trial today to see how you can access a complete view of U.S. prescription drug market, including all-payer diagnoses and procedures, prescribing physicians, referrals, and more. 

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