March 10, 2008

Zellweger syndrome


What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.

The NIH is USA based and mostly deals in stroke research but is actively doing genetic research on disorders on the brain such as Zellweger syndrome. The link below will take you to the NIH website to see if there is any active clinical trails open for participation

National Institute of Child Health and Human Development (NICHD)

Update: 2/18/09

Below is a couple of studies on zellweger syndrome. Also if you have any question about how this disease works, I will be glad to help. I can also explain the difficult technical jargon that you often find in rare disorder. Just leave a comment and I will respond as soon as I can.

Zellweger syndrome: A genetic disorder, also called the cerebrohepatorenal syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain.

The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.

There is no cure for Zellweger syndrome and there is no standard course of treatment. Infections are guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.

The prognosis (outlook) with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.

The syndrome is caused by mutations (changes) in any of several different genes involved in peroxisome formation. These genes lie on at least two different chromosome locations including chromosome 2 (region 2p15) and chromosome 7 (region 7q21-q22).

The syndrome is named for the Swiss-born pediatrician Hans Zellweger (1909-1990) who came to the US and for many years was at the University of Iowa.


Anonymous said...

can stem cell treatment help if a baby is born with this disease ? i understand that stem cell treatment is available in some countries and is very expensive but could it help?

Anonymous said...

I do not think stem cell therapy will help because since the DNA of the patient is the problem giving the patient stem cells with the same DNA will not correct the problem.
Gene therapy is one possible solution to this problem, but a lot of research is still needed.

Anonymous said...

My son, Ethan, is six months old and was diagnosed with a peroxisomal biogenesis disorder, Zellweger Spectrum when he was just 4 weeks old.
I wanted to share with those here about some additional support groups that have been a lifeline to me since his diagnosis:
- this group has over 100 members!
- this group has over 40 members!
Another great place for support is The Zellweger Baby Support Network -
And I wanted to make sure you knew about a new organization that is starting, The Global Foundation for Peroxisomal Disorders (Zellweger Spectrum)-
Also, if anyone is on Facebook, a new group has been started there as well -!/home.php? sk=group_125397297528689
I think there are more of us out there than we realize, it is just hard to find each other.