What is an Orphan Disease?

At SPNN, we provide clinical services and education to specialty pharmacies and biotech pharmaceutical manufacturers. We have a vast network of specialty infusion nurses nationwide who provide drug administration, self-administration training, and adherence programs to patients in multiple therapeutic environments. The typical patient we treat is an individual with rare, chronic, and/or an orphan disease or disorder. Specialty infusion treatments can improve clinical outcomes for these patient populations, and therapies are routinely provided via this method.

According to the FDA:
An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide. This includes diseases as familiar as cystic fibrosis, Lou Gehrig’s disease, and Tourette’s syndrome, and as unfamiliar as Hamburger disease, Job syndrome, and acromegaly, or “gigantism.” Some diseases have patient populations of fewer than a hundred. Collectively, however, they affect as many as 25 million Americans, according to the National Institutes of Health (NIH), and that makes the diseases — and finding treatments for them — a serious public health concern.

So, an orphan disease is a rare case with a small patient population, but collectively orphan disease states impact a significant number of Americans. Diagnosing and ultimately treating these diseases is challenging because:

  1. Orphan diseases are often mis-diagnosed early on in the disease state
  2. Orphan diseases have complex biology
  3. Researching these diseases is challenging as orphan diseases can mimic other illnesses
  4. Development of safe, effective treatments is extremely costly and time-consuming due to:
    1. Small patient populations, making conducting clinical trials difficult
    2. Lack of FDA approval

The Orphan Drug Act of 2002

Thanks to the Orphan Drug Act, pharmaceutical manufacturers and other drug companies are more incentivized than ever to spend time and capital on developing effective treatments for orphan diseases. The incentives to develop these treatments include:

  1. Tax credits
  2. Waiver of the Prescription Drug User Free (which can be as high as $3,000,000)
  3. Up to seven years of market exclusivity on distribution of the treatment post-approval

Orphan Diseases SPNN Treats with Infusion Therapy

SPNN works with these manufacturers to administer such treatments to patients with orphan diseases in their homes. Some of the orphan diseases our speciality infusion nurses commonly treat include but are not limited to:

Alpha 1 Antitrypsin Deficiency

An inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren’t the right shape, they get stuck in the liver cells and can’t reach the lungs.


Atypical Hemolytic Uremic Syndrome

An extremely rare disease characterized by low levels of circulating red blood cells due to their destruction (hemolytic anemia), low platelet count (thrombocytopenia) due to their consumption and inability of the kidneys to process waste products from the blood and excrete them into the urine (acute kidney failure), a condition known as uremia.


Crohn’s Disease/Ulcerative Colitis

Forms of inflammatory bowel disease that most commonly affect the colon and the last part of the small intestine (ileum).


Chronic Inflammatory Demyelinating Polyneuropathy (CIPD)

A rare disorder of the peripheral nerves characterized by gradually increasing sensory loss and weakness associated with loss of reflexes.


Duchenne Muscular Dystrophy

A genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.


Hereditary Angioedema

A disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger.


X linked Hypophosphatemia

A condition that affects bones, muscles, and teeth due to the excessive loss of phosphate. Phosphate is lost through the urine, which causes low levels of phosphorus in the blood, a condition called phosphate wasting or hypophosphatemia.


Myasthenia Gravis

A neuromuscular disorder primarily characterized by muscle weakness and muscle fatigue. Although the disorder usually becomes apparent during adulthood, symptom onset may occur at any age.


Multiple Sclerosis

A potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause permanent damage or deterioration of the nerves.


Hunter Syndrome

A rare, inherited disorder in which the body does not properly digest (break down) sugar molecules in the body. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development and abilities. The disorder almost always occurs in boys.


Primary Immunodeficiency Disease (PIDD)

a condition in which the immune system is weaker than normal. The term “primary” implies that there is an independent problem of the immune system rather than a weakening of the immune system due to another condition like HIV/AIDS (a secondary immune deficiency).


Rheumatoid Arthritis

A chronic inflammatory disorder that affects joints, and in some people, the condition can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels. An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your own body’s tissues.


Pompe/Fabry/Gaucher Disease

Gaucher Disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals develop few or no symptoms (asymptomatic); others may have serious complications.

SPNN is committed to providing best-in-class specialty infusion treatments to patients who suffer from orphan diseases and disorders. We are currently hiring nationwide. If you’re a specialty infusion nurse looking to join a company that is completely dedicated to patient care and positive health outcomes, visit our careers page.

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