Very few rare diseases have effective treatments around the world. But, thanks to these 7, that number might just have dropped, at least by a little bit.
For a disease to be considered rare, in the USA, it will usually only affect about 200,000 individuals. To date, there are around 6800 rare diseases recognized by the National Institutes of Health (NIH).
But, it should be born in mind that although each disease is rare, in and of itself, the cumulative number of affected people is significant. According to this article, they effect somewhere in the order of 30 million people, or 1 in 10 in the U.S.
For a disease to be considered rare in the EU, it must only affect fewer than 5 in every 10,000 people.
Some rare diseases are very rare indeed. Some have less than a dozen known cases, whereas others are more common, such as multiple sclerosis, cystic fibrosis, and Duchenne muscular dystrophy.
Collectively, it is estimated that these disorders affect 6–7% of the population in the developed world.
Many healthcare professionals warn that there is a dire need for effective treatments for some or all of these. But drug treatment development is not a quick process.
These 7 disorders, at least, finally have some FDA approved treatments for their long-suffering patients.
1. Melorheostosis was a mystery for years
In April of last year, we reported on a possible reason for this rare disease called Melorheostosis. The disease is incredibly rare with only 400 registered cases worldwide to date.
After a concerted effort to track down the cause, the National Institutes of Health finally appears to have found the reason. Prior to this no-one was any the wiser as to the cause.
Timothy Bhattacharyya, M.D. explains “Scientists previously assumed that the genetic mutations responsible for melorheostosis occurred in all cells of a person with the disorder”.
According to the recent study, the cause appears to be a defective gene within the patients. MAP2K1 genes are responsible for the production of MEK1 proteins.
When these genes aren't functioning as they should, excess protein is created. This causes a build up of excess bone at affected sites, thus creating the problem.
This insight will now prove a vital piece of information for now creating a potential cure in the future.
2. Non-Hodgkin lymphoma finally has an FDA approved treatment
Two types of treatment for Non-Hodgkin lymphoma, relapsed or refractory mycosis fungoides (MF) or Sézary syndrome (SS), have recently had FDA approval. Both of these disorders are malignant T lymphocyte cancers of the blood.
Up to now, they have been incredibly hard to treat, but the wait for a cure might now be over. The new drugs, Mogamulizumab-kpkc is injected intravenously and is the first FDA approved drug for treating the disorders.
The drug's approval followed a clinical trial of over 372 patients who received either the drug or chemotherapy. The results were impressive.
Of those who received the drug, their post-drug use survival rates were double that of the chemotherapy group. Whilst not long, almost 8 months compared to 3, this is encouraging for future developments.
The approval “fills an unmet medical need for these patients,” said Richard Pazdur, MD, director of the FDA’s Oncology Center of Excellence and acting director of the Office of Hematology and Oncology Products in the FDA’s Center for Drug Evaluation and Research, in a statement.
3. Hereditary angioedema (HAE) can now be treated
A new drug, Lanadelumab-flyo, was recently approved by the FDA to prevent attacks of Hereditary Angiodema (HAE). It can be used to help patients over the age of 12 years old.
HAE is a very rare, genetic, and potentially life-threatening disorder. It can cause reoccurring attacks of swelling (edema) all over the patient's body.
HAE currently affects around 1 in 10,000 to 1 in 50,000 people. Children also have a 50% chance of expressing the disorder if any one of their parents are sufferers.
Sufferers will often exhibit unbearable pain, feeling sick, and vomiting caused by swelling in the intestinal wall. If swelling occurs in the throat, it can lead to death by asphyxiation.
The new drug targets the production of an enzyme called plasma kallikrein, which is chronically uncontrolled in HAE sufferers. It is administered just under the skin through self-injection and has a half-life of around 2 weeks.
4. Fabry disease now has a better treatment
Fabry disease is another rare disease, and a genetic disorder, that causes a buildup of fat in blood vessels, the kidneys, heart, and nerves of patients. This fat, globotriaosylceramide (GL-3), can also buildup in many other organs of the body, and is potentially fatal in the long run.
The problem is caused by a deficiency in an enzyme that results in the build-up of fat around the body. Current treatments simply replace the missing enzyme instead of providing a 'cure' per se.
The new drug, Migalastat, was recently approved by the FDA and it is the first oral medication dedicated to the treatment of the disorder in adults. It differs from existing treatments by increasing the activity of the body's deficient enzyme,alpha-galactosidase A.
It's effectiveness was demonstrated during a 6-month, placebo-controlled trial in 45 adult sufferers. Patients who were treated with the new drug showed a much greater reduction in globotriaosylceramide in various organs around the body.
It was also shown to be safe through 4 clinical trials of 139 Fabry patients.
5. Beta Thalassemia now, hopefully, has a potential cure
Beta Thalassemia is a rare disorder that reduces the amount of hemoglobin produced in red blood cells. To anyone who remembers their school biology lessons, this is the protein that allows red blood cells to carry oxygen around the body.
It is, to say the least, vitally important to keep you alive. Sufferers have a chronic shortage of the iron-containing protein in their bloodstream that leads to oxygen starvation in parts of the body.
Sufferers tend to also suffer from anemia from a shortage of viable red blood cells.
Symptoms often include pale skin, weakness, fatigue, as well as, much more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.
The new drug, Luspatercept, currently in development, is a fusion protein that regulates late-stage red blood cell production in the bone marrow of patients.
By doing so, it increases the levels of hemoglobin and reduces blood transfusion burden for patients and primary healthcare facilities.
6. Amyotrophic lateral sclerosis (ALS) might now have a treatment
Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. The disease's name comes from the combination of the greek "A", meaning no, "Myo", meaning muscle, and "Trophic", meaning nourishment.
So literally, "no muscle nourishment". Any muscle that doesn't receive nourishment will waste away, or atrophy.
Lateral refers to the fact that it affects a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As the disease progresses, the affected sites suffer from scarring and hardening, medically known as "sclerosis".
This leads to the demise of motor neurons from the brain and leads to patients losing motor function which can lead to the loss of speech, inability to feed themselves, loss of movement and even control breathing.
Various new trials could lead to treatments for ALS in the not too distant future. They include gene therapy and stem cell approaches for ALS.
7. Juvenile idiopathic arthritis could now have a viable treatment
Juvenile Idiopathic Arthritis, formerly called Juvenile Rheumatoid Arthritis, is a rare disease that affects children up to the age of 16.
This disorder leads to constant joint pain, swelling and general stiffness in its sufferers. Some patients may only suffer from the disorder for a few months, whilst others suffer for the rest of their lives.
In some cases, the disorder can lead to growth problems, joint damage, and eye inflammation. Current treatment includes control of the pain and inflammation, improved function and prevention of joint damage.
There is currently no cure, and treatments include the use of corticosteroids, anti-inflammatory drugs, disease-modifying antirheumatic drugs (DMARDs), and biological agents. Whilst most simply help with the symptoms, yet others, like biological agents, can reduce systemic inflammation and joint damage in the long run.
Examples include etanercept and adalimumab. Other treatments can include biological agents that suppress the patient's immune system.
These include Abatacept, Rituximab, Anakinra, and Tocilizumab.