This is the case of for a couple whose twin daughters were affected by a severe and rare degenerative genetic disease.  Although doctors told them there was nothing they could do, they did not give up and continued to search for data in the medical literature to give a little information that had been overlooked by researchers and fortunately was able to improve the quality of life of their little ones without any scientific training background.

The disease

Addi and Cassi, the twin daughters, suffered the Niemann-Pick disease type C (NPC), a genetic disorder that results in the absence of a carrier protein cholesterol.  Unable to be transported, this substance accumulates in cells throughout the body, causing dysfunction in the organs, neurodegeneration and eventually death at an early age.

In fact, it is called child Alzheimer’s, because children who have it show learning and memory problems due to neuronal degeneration resulting from the accumulation of cholesterol in the brain.

Cyclodextrin

The news of the illness of their small ones was a hard blow for these parents, especially when doctors informed them that there was no treatment. But they did not give up and continued inquiring, reading all the scientific literature that fell into their hands; until, one day, they found the most important finding of their whole life.  In a 2004 study there was talk of a neurosteroid, which was supplied together with cyclodextrin as a carrier. The complex compound was able to regenerate the transport of cholesterol in mice that previously had affected the transporter protein responsible for the NPC.

However, later studies found that it was not the neurosteroid responsible for the improvement, but actually it was the cyclodextrin which helped with healing; although up until then it had only been used to transport the drug.

What is cyclodextrin?

Cyclodextrin is a compound, obtained by enzymatic conversion of starch, formed of sugar molecules linked in a ring.

It has a great interest in the pharmaceutical and food industry, because the outer ring is hydrophilic (like water), while the outside is hydrophobic (repels water).  Therefore, it can trap chemicals (which don’t like water) inside its cavity and promote their mixing in medicines and foods, such as mayonnaise, butter and some sweets.

Furthermore, this property also makes it a large conveyor, which favors the dissolution of drugs by the body.  In fact, it was this reason that it was used as a carrier for neurosteroid in the 2004 experiment, showing that it was not only able to transport the drug, but could also do the same with cholesterol, preventing them from being deposited in the cells.

Cyclodextrin to treat cholesterol, is good to take sugar?

This does not mean that any sugar is good for reducing cholesterol levels.  However, the cyclodextrin itself has proven to be useful in treating diseases such as NPC.

Parents of Addi and Cassi did not hesitate to share this discovery to a group of researchers from the University of Bonn, who agreed to investigate the properties of the cyclodextrin against the disease of their daughters.

Treating the twins

Meanwhile, they tried to deliver the substance to the twins orally, but there was no way to reach the brain, where it was already starting to damage. However, after dealing with the FDA and physicians, they managed to be allowed to perform intravenous treatment and fortunately its effect was observed.

The disease was not fully reversed, but the improvement was there, so it launched a clinical trial to generalize this treatment in other children with NPC.

Future

German researchers have further researched use of cyclodextrin as a carrier of cholesterol and have already managed to reverse atherosclerosis in mouse cells and in human tissue from blood vessels.

Thus; its results, which have just been published in Science Translational Medicine are very promising.

Who knows? maybe one day the courage twins’ parents worried about their daughters will save millions of lives.  And there’s only one thing more powerful than the science and technology world: love of parents for their children.

This is the case of for a couple whose twin daughters were affected by a severe and rare degenerative genetic disease.  Although doctors told them there was nothing they could do, they did not give up and continued to search for data in the medical literature to give a little information that had been overlooked by researchers and fortunately was able to improve the quality of life of their little ones without any scientific training background.

The disease

Addi and Cassi, the twin daughters, suffered the Niemann-Pick disease type C (NPC), a genetic disorder that results in the absence of a carrier protein cholesterol.  Unable to be transported, this substance accumulates in cells throughout the body, causing dysfunction in the organs, neurodegeneration and eventually death at an early age.

In fact, it is called child Alzheimer, because children who have it show learning and memory problems due to neuronal degeneration resulting from the accumulation of cholesterol in the brain.

Cyclodextrin

The news of the illness of their small ones was a hard blow for these parents, especially when doctors informed them that there was no treatment. But they did not give up and continued inquiring, reading all the scientific literature that fell into their hands; until, one day, they found the most important finding of their whole life.  In a 2004 study there was talk of a neurosteroid, which was supplied together with cyclodextrin as a carrier. The complex compound was able to regenerate the transport of cholesterol in mice that previously had affected the transporter protein responsible for the NPC.

However, later studies found that it was not the neurosteroid responsible for the improvement, but actually it was the cyclodextrin which helped with healing; although up until then it had only been used to transport the drug.

What is cyclodextrin?

Cyclodextrin is a compound, obtained by enzymatic conversion of starch, formed of sugar molecules linked in a ring.

It has a great interest in the pharmaceutical and food industry, because the outer ring is hydrophilic (like water), while the outside is hydrophobic (repels water).  Therefore, it can trap chemicals (which don’t like water) inside its cavity and promote their mixing in medicines and foods, such as mayonnaise, butter and some sweets.

Furthermore, this property also makes it a large conveyor, which favors the dissolution of drugs by the body.  In fact, it was this reason that it was used as a carrier for neurosteroid in the 2004 experiment, showing that it was not only able to transport the drug, but could also do the same with cholesterol, preventing them from being deposited in the cells.

Cyclodextrin to treat cholesterol, is good to take sugar?

This does not mean that any sugar is good for reducing cholesterol levels.  However, the cyclodextrin itself has proven to be useful in treating diseases such as NPC.

Parents of Addi and Cassi did not hesitate to share this discovery to a group of researchers from the University of Bonn, who agreed to investigate the properties of the cyclodextrin against the disease of their daughters.

Treating the twins

Meanwhile, they tried to deliver the substance to the twins orally, but there was no way to reach the brain, where it was already starting to damage. However, after dealing with the FDA and physicians, they managed to be allowed to perform intravenous treatment and fortunately its effect was observed.

The disease was not fully reversed, but the improvement was there, so it launched a clinical trial to generalize this treatment in other children with NPC.

Future

German researchers have further researched use of cyclodextrin as a carrier of cholesterol and have already managed to reverse atherosclerosis in mouse cells and in human tissue from blood vessels.

Thus; its results, which have just been published in Science Translational Medicine are very promising.

Who knows? maybe one day the courage twins’ parents worried about their daughters will save millions of lives.  And there’s only one thing more powerful than the science and technology world: love of parents for their children.