Rare Diseases in the USA

Rare Diseases in the USA

We Have discussed some Rare diseases in the USA in this Blog. Over 7000 rare diseases affect about 30 million people in the United States. The rarest diseases are life-threatening, and many have no treatments yet. Device development, biologic, and lack of drugs for rare diseases are challenging for many reasons, including lack of understanding and complex biology of the natural history of many rare diseases.

A small population of patients with rare illnesses can also make conducting clinical trials difficult. Since the Orphan Drug Act was signed in 1983, the Food and Drug Administrator has approved hundreds of drugs for rare diseases, but most rare diseases do not have a treatment approved by FDA. They work with many people and groups, such as caregivers, patients, and drug and device manufacturers, to support product development for rare diseases.

The Orphan Drug Act defines a rare disease as a condition that affects less than 200000 people in the United States.

What do I mean by rare disease?

The European Union described a condition or disease as rare if it affects fewer than 1 in 2000 people within the general population. There are over 7000 known rare diseases in the current scenario, and new conditions are regularly described through medical literature. About 1 in 17 people can be affected by a rare disease at some point in their life. It amounts to 3.5 million people in the USA and 30 million people across Europe.

The majority of rare illnesses currently have no effective cure. Almost 8 out of 10 rare diseases have a genetic cause, and about 99 percent of genetic conditions are classed as rare. Often rare conditions are chronic and life-threatening and can be a single gene, chromosomal, or multifactorial.

It takes over four years to receive an accurate diagnosis of rare conditions. They include rare cancers such as childhood cancer and other well-known illness such as Huntington’s disease or fibrosis.

What is an Orphan Drug Act

An Orphan Drug Act is a law that was passed in 1983 that incentivizes the development of drugs to treat rare conditions. Several companies and drug developers can request orphan drug designation, and the FDA grant such title if the medicine meets specific criteria.

Orphan designation qualifies sponsors for several incentives, such as:

  • Tax credits for qualified human clinical testing
  • potential seven years market exclusivity after approval
  • waiver of the prescription drug user fee, currently it is almost $3 million for a new drug.

In addition, this act established the Orphan Product Grants Program to provide funding for developing products for rare illnesses or conditions.

Different types of Rare Diseases in the USA

Spreading awareness enables individuals to understand if they are suffering from something they can cure. But, sadly, many rare conditions are without treatments or cure at this point due to the significant absence of people available to participate in scientific studies.

Some rare diseases need more scientific investigation, public understanding, and funding.

Stoneman Syndrome

Stoneman syndrome is, also known as fibrodysplasia ossificans progressive (FOP), occurs in about one in two million people. This disease slowly turns connective tissue such as muscles, ligaments, and tendons into bone.

The progression disorders start from the neck to the shoulder and gradually proceed to the lower part of the body and finally to the legs. Due to the stiffness, body movements get restricted progressively because the illness affects the joints. The patient finds it difficult to open their mouth, which causes trouble in eating and speaking.

A second bone grows over the first, in a process known as heterotopic ossification. It is permanent, and surgical efforts to remove the bone can trigger immense growing bone due to the procedure’s invasiveness. People with this syndrome risk losing their mobility after a small accident or minor fall, as growth in bone is stimulated.

This syndrome currently has no treatment due to the condition’s rarity, which affects about one in two million people. Stoneman syndrome is affected rarely, and the symptoms can be diagnosed as cancer and fibrosis.

Alice in Wonderland syndrome

A British scientist first described this disorder in 1955. He gave it this name by way of the famous novel by Lewis Carroll because this illness resembles the vents experienced by Alice in the story.

Alice in Wonderland is the most major illness that has disturbing symptoms of altered body image. In this condition, patients find that they are confused about the size and shape of their body parts. The body parts usually mentioned are the hands and head; their growth seems more usual than shrinkage.

The second unusual symptom is the distortion of visual perception. The sufferer’s eyes are normal, but they see that object with the wrong shape or size or find the perspective incorrect. It can mean that people, buildings, or cars look smaller or bigger than they are, or the distance looks erroneous. For instance, a corridor may look to be very long, or the ground may appear too close.

Some other symptoms include distorted time perception, touch perception, or distorted sound perception. There is still no cure for AIWS, but there are treatments for possible causes.


Alkaptonuria is, also known as black urine disease, is a rare inherited disorder. It prevents your body from entirely breaking down two protein-building blocks called tyrosine and phenylalanine. It then results in the building up of chemicals called homogentisate acid in the body.

This rare condition causes urine and body parts to dark color and leads to other severe problems over time. Amino acids usually break down in a chemical reaction, but in this illness, a substance produced along the way, homegentisic acid, could not break down any further. It is because the enzyme that usually breaks it down does not function properly.

It can build in almost every area of the body, including the tendons, bones, nails, heart, and cartilage. It stains the tissue dark and causes several problems.

How can patients get involved in FDA’s work on rare diseases?

The Patient Affairs Staff of FDA partnered with the National Organization for rare disorders to host rare disease patient listening sessions. Here, patients can share their experience with a disease or condition by talking directly with the staff of the FDA.

The FDA recommends that patients with rare illnesses contact their staff with any questions about the treatments of their conditions and how they can participate in the FDA process.

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