The medication IPLEX (mecasermin rinfabate), manufactured by Insmed, has since January 2007 been used on an experimental basis in Italy to treat people with amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), a neurodegenerative disease. On November 10, 2008, Insmed and its partners Genentech and Ipsen/Tercica issued a statement about making IPLEX available to people with ALS in other countries. The statement says in part: "Genentech, Ipsen/Tercica, and Insmed have been contacted by people living with Amyotrophic Lateral Sclerosis (ALS) and their loved ones seeking access to IPLEX™ . . . We understand the devastation a disease like ALS causes and that there are a lack of available therapies that provide meaningful clinical benefit. Although IPLEX™ has not been rigorously tested in people with ALS, nor received regulatory approval for use in ALS, all the companies involved appreciate the urgency and desperation for new treatments in the ALS community. We are all working diligently to determine how best to respond to that need.

The availability of IPLEX™ is subject to a Court-Ordered Settlement Agreement. On November 8, 2008, Genentech and Ipsen/Tercica signed a letter of intent whereby they have consented to amend the Court-Ordered Settlement Agreement to permit Insmed to supply IPLEX™ in connection with named-patient ALS programs worldwide on a royalty-free basis."

What it all means: Insmed is going to seek approval to use IPLEX in other countries based on the results of the treatment of people with ALS in Italy. The drug won't be free, but Genentech and Ipsen/Tercica won't collect royalties on it. IPLEX is the first drug of any kind to show effectiveness in reducing the symptoms of ALS.

Getting a rare disease diagnosis can be a long, frustrating process. Most doctors aren't familiar with rare diseases so they don't recognize them. Or you may not fit the usual picture of the disease. Or you may be waiting forever to see a specialist to get a diagnosis. I've heard many stories of misdiagnosis too, or simply no diagnosis at all. Did you have trouble getting a diagnosis? Leave a comment below to share your story.

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Coarctation of the aorta occurs in 5-8% of children who are born with heart defects (called congenital heart disease). It occurs twice as often in boys as in girls. It is usually diagnosed in children and adults under age 40.

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Infant deaths due to missed or delayed diagnosis of congenital heart disease (heart defects present at birth) continue to be a significant problem, say researchers in the October 2008 issue of Archives of Pediatrics and Adolescent Medicine. "Congenital heart disease affects 8 to 12 per 1000 live-born infants and is one of the most common and serious types of birth defects," writes Dr. Ruey-Kang R. Chang, of UCLA Medical Center. "Many infants born with congenital heart disease are discharged from the hospital nursery with their conditions undiagnosed."

Dr. Chang and colleagues looked at data from 898 infants in California who died of congenital heart disease within a year of birth between 1989 and 2004 who either did not undergo surgery or had an unknown surgery status. Of the 898 infants, 152 had congenital heart disease that was missed. The most common missed diagnoses were hypoplastic left heart syndrome (58 babies) and coarctation of the aorta (41 babies).

Detecting congenital heart defects can be improved by doing an ultrasound (echocardiogram) of the infant's heart prior to birth in a high-risk pregnancy and by doing a thorough heart examination of the infant prior to his/her going home from the hospital nursery. Recent research has also suggested that pulse oximetry screening of all newborns prior to leaving the hospital might detect more cases of heart defects. In addition, at an infant's first visit to the pediatrician, usually at 3 to 5 days of age, the doctor can give each infant a thorough heart examination.

Chang, Ruey-Kang R., Michelle Gurvitz, & Sandra Rodriguez. "Missed Diagnosis of Critical Congenital Heart Disease." Archives of Pediatrics & Adolescent Medicine 162(2008): 969-974.

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