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Rare Diseases Blog


One Reason to be Grateful for Bedbugs

Tuesday August 31, 2010

We all shudder at the thought of a bedbug infestation -- and those of us in cities that have been blanketed with the apple-seed-sized crawlers are dealing with the very real concerns of how to keep them out of our homes (hint: it's extremely difficult). But an article in today's New York Times points to one feature of bedbugs that we all should be very happy about: they do not spread disease. That is, not as far as anyone has been able to tell so far. Researchers have fed the insidious insects blood with the AIDS virus, hepatitis B, and other viruses, and never did the bedbugs transmit the pathogens to their victims. Let's hope they never change! At least in that respect.

The CDC and the EPA have issued a joint statement about the recent spread of the critters; read it here.

Dengue Fever Resurfaces in Key West

Thursday July 15, 2010

For the first time in 64 years, there's evidence of a dengue fever outbreak in the continental United States. Last fall, on a tip from a New York resident who came down with the mosquito-spread illness after traveling to Key West, researchers started collecting blood samples from a random selection of residents in the area. They found that 5% of the samples had the dengue fever virus or its antibodies, indicating that about 1,000 Key West residents may well have come into contact with it.

The chief of the dengue branch at the Centers for Disease Control and Prevention, Dr. Harold Margolis, issued a statement yesterday, saying, "We're concerned that if dengue gains a foothold in Key West, it will travel to other Southern cities where the mosquito that transmits dengue is present, like Miami."

Symptoms of dengue fever include a sudden high fever of up to 104 or 105 degrees, severe headache, muscle aches, nausea, vomiting, and rash on the torso, arms, legs and face.

Former 76er Manute Bol dies

Tuesday June 22, 2010

Manute BolThe 47 year-old, 7-foot-7 Sudanese former NBA player had acute kidney failure and a rare skin disorder called Stevens-Johnson Syndrome, in which the skin  and mucus membranes blister and shed in reaction to an infection or a medication. It's thought that Mr. Bol developed the severe rash after being treated for a kidney infection at a hospital in Sudan, where he was working to build a series of schools with the organization he founded, Sudan Sunrise.

FDA Approves New Drug for Pompe Disease

Thursday May 27, 2010

The Food and Drug Administration has just approved a new drug to treat those with late-onset Pompe disease. It's called alglucosidase alfa (Lumizyme).

Pompe disease affects between 5,000 and 10,000 people globally. It's a rare lysosomal storage disorder caused by a lack of an enzyme called acid alpha-1,4-glucosidase. This lack leads to a build-up of glycogen, which eventually causes muscle damage, and can be fatal when the respiratory and cardiovascular systems are affected.

Lumizyme replaces the necessary alpha-glucosidase (GAA) in the body, reducing the glycogen buildup. The drug, which was approved based on a trial of 90 patients between 10 and 70 years old, has not been approved for younger patients with Pompe disease. The other effective drug on the market, Myozyme -- which has been approved for younger patients --  is currently in short supply and is being reserved for those with Pompe disease under 8 years old.

FDA pushes for cures for orphan diseases

Wednesday March 10, 2010

In a push to find cures or at least better treatment for rare diseases, the Food and Drug Administration is giving pharmaceutical companies an incentive to create therapies for so-called orphan diseases - those that affect fewer than 200,000 Americans.

Incentives for orphan-drug designation include seven years' marketing exclusivity and tax breaks. Last year, just 250 requests for orphan-drug designation were filed, and 160 received it.

"We're barely scratching the surface," Dr. Timothy Coté, director of the FDA's Office of Orphan Products Development, the workshop's sponsor told the Wall Street Journal. He says there are roughly 350 orphan drugs approved, covering about 150 rare diseases.

Big companies are starting to get more interested in rare diseases, but the key issue is the high cost of developing a drug and the typically long time it takes to move it from a lab into a clinic as a treatment that gets prescribed. Before starting down this arduous path, a company needs to feel there is a reasonable chance of making a profit.

To get more applications, Coté's office made help is available, in two workshops with on-the-spot regulatory advice. The first workshop, held last month at the Keck Graduate Institute here, drew 29 potential sponsors, from major drug companies to academic centers, small biotechs and even some patient advocates. In a follow-up survey, 74% said they had never before filed an application for orphan drug designation.

Coté considered the workshop a success but was disappointed that not every group submitted.

Up to 50 organizations can attend the second workshop that will be held at the University of Minnesota in August. Coté said he was considering workshop in Europe.

The FDA continues to aggressively recruit companies, but resources are still limited and he warns don't attend unless you plan to submit.

Girl with "mermaid syndrome" dies at age 10

Wednesday October 28, 2009

Shiloh Pepin, who was born with sirenomelia, or "mermaid syndrome," has died at the age of 10. She passed away last Friday in Maine.

Sirenomelia is a condition in which one's legs are fused together from the waist down. Pepin did not have any genital organs or a large intestine. Most children born with sirenomelia die soon after birth.

You can read more about Shiloh at ABCNews.com.

Folotyn Gets OK for Rare Lymphoma Treatment

Monday September 28, 2009

Though the news might not make a splash for most, those with relapsed and refractory peripheral T-cell lymphoma are rejoicing.The FDA has approved Folotyn (pralatrexate) for for treatment of this rare cancer -- the first treatment ever available.  Toxicity is a concern, and so those being treated with Folotyn are recommended to take folic acid and vitamin B12 supplements.

FDA News Release

Sabril approved by FDA to treat infantile spasms

Tuesday September 1, 2009

On August 21, 2009, the U.S. Food and Drug Administration (FDA) approved Sabril (vigabatrin) to treat infantile spasms in children ages 1 month to 2 years. Infantile spasms are a type of seizure disorder, often part of West syndrome, in which the infant suddenly bends forward at the waist and the body, arms, and legs stiffen. These spasms last a few seconds and occur in clusters of anywhere from 2 to 100 spasms at a time. Some infants have dozens of these clusters of spasms in a day.

Sabril is the first drug in the United States approved to treat infantile spasms. Damage to vision is an important safety concern with the use of Sabril. The drug will have a boxed warning to alert health care professionals to this risk of a progressive loss of peripheral vision with potential decrease in visual acuity. The risk of vision damage may increase based on the dosage and duration of use, but even the lowest doses of Sabril can cause vision damage. Periodic vision testing is required for those taking Sabril. Because of the risk of permanent vision damage, the drug will be available only through a restricted distribution program.

Osteogenesis Imperfecta

Sunday August 30, 2009

Broken arm bonesOsteogenesis imperfecta, also known as brittle bone disease, is an inherited condition. Almost all individuals with osteogenesis imperfecta have fragile bones that break easily.

Photo © A.D.A.M.

BPNA Rare Disorders Symposium September 29, 2009

Thursday August 27, 2009

The 8th European Pediatric Neurology Society Congress is being held September 30 - October 3, 2009, in Harrogate, England. A Rare Disorders Symposium will be held on September 29 prior to the Congress. This Symposium, being organized by Professor Brian Neville, will cover topics such as:

Attendance can be booked through www.bpna.org.uk/epns2009.

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