What is adult polyglucosan body disease (APBD)?

APBD is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Also, they have progressive difficulty in controlling the [...]

April 12th, 2018|

How common is the disease?

APBD is a rare condition. Recently, Dr. Ruth Kornreich of Mount Sinai Medical Center in NYC found a 1:48 carrier frequency for either of the two most common APBD mutations [1) p.Y329S and (2)Dr. Akman’s recently discovered intronic mutation]. These [...]

April 12th, 2018|

What genes are related to APBD?

Mutations in the glycogen branching enzyme (GBE) gene cause adult polyglucosan body disease. The GBE gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a [...]

April 13th, 2018|

Is there a test for APBD?

Yes.  Genetic testing and blood protein sampling can detect or suggest mutations in the GBE1 gene known to cause APBD and are available only as a diagnostic service at specialized laboratories. For more information, please visit our testing info webpage.

April 13th, 2018|

What research is going on?

Recently, the Baylor Metabolic Institute completed a six-year clinical controlled study of triheptanoin oil for treating APBD. This oil is made from caster bean—containing seven carbon atoms whereas foods have an even number—that circumvents the GBE and provides 500 calories [...]

April 13th, 2018|

Are there any existing treatments for APBD specifically?

There are no current treatments or recommendations for supportive care. To our knowledge no research is being conducted regarding supportive care. Each patient has customized supportive care from their physician based on their disability. According to the literature, APBD shortens [...]

April 13th, 2018|

What APBD drugs may be coming soon?

Recently, the Baylor Metabolic Institute completed a six-year controlled clinical trial of Triheptanoin, an alternative energy source for APBD patients. The Adult Polyglucosan Body Disease Research Foundation (APBDRF) anticipates that the results of this drug trial will be unblinded soon. [...]

April 13th, 2018|

What is so bad about malformed glycogen?

First, when there is low activity of the branching enzyme, newly formed glycogen is manufactured incorrectly into long strands called “polyglucosan bodies.” These polyglucosan bodies cannot be used for fuel, so they build up inside nerve cells. This causes damage [...]

April 13th, 2018|

What do mutated exons and introns mean for APBD?

Each gene in the body is made of one allele (a grouping of instructions) which originated from the mother and another allele which originated from the father. Picture the alleles as two railroad trains having cars loaded with various kinds [...]

April 13th, 2018|

What do these GBE1 mutations mean for scientific research?

APBD research scientists have taken different approaches to treat APBD. Some have adopted a specific approach to address either homozygous or compound heterozygous APBD patients. Others are working on a universal approach for treating both types of APBD patients.

April 13th, 2018|

What financial assistance is offered?

Generally, financial assistance organizations support improved access for (1) Out-of-pocket costs when you have medication insurance, including co-pays and “donut holes”; and (2) Premiums of drug insurance. Some financial assistance organizations also help patients obtain better medication insurance. The level [...]

April 13th, 2018|

Which organizations provide such assistance?

We have begun conversations with Caring Voice (Ms. Pam Harris, President) and the Assist Fund (Mr. Gerald Lauria, representative) to provide financial assistance for the Triheptanoin drug. In the coming months, look to this space for more details about such [...]

April 13th, 2018|