Scientists believe they have found a drug that could treat a rare disease that is often referred to as childhood Alzheimer's.
Results of a small clinical trial have shown promise to treat the neurogenerative condition that typically kills those afflicted before they turn 20.
The disease, Niemann-Pick type C (NPC), causes cholesterol build up in the neurons, leading to enlarged organs, lung damage, muscle stiffness, seizures, dementia and difficulty speaking.
In the trial, researchers have shown that a sugar molecule called cyclodextrin slows the disease's progression.
Sisters Brynne and Kendall Moore-LaFever, eight and six (left and right) both have the condition and are undergoing treatment in a clinical trial for cyclodextrin, the same drug that showed positive results in the tests at Washington University School of Medicine
Marian McGlocklin, who is 22 months (pictured right) is also undergoing treatment with the cyclodextrin drug, though she is too young to take part in any trials. In a study published on August 10 scientists outline the positive effects the drug has shown
The study, which was led by researchers at Washington University School of Medicine and the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health, showed that the drug can return some brain function in NPC patients.
'We were surprised to see evidence that this therapy could slow progression of the disease and, in some cases, get back some function - speech in particular,' said head author Dr Daniel S Ory, the Alan A and Edith L Wolff Professor of Cardiology at Washington University School of Medicine in St Louis.
'In a neurodegenerative disease, therapies can't recover neurons that have died. But if some brain cells are dysfunctional rather than dead, it seems this drug can recover some of that function.'
The research team administered the drug to 14 NPC patients between the ages of four and 23.
Of the patients, 11 had cyclodextrin administered into their spinal column once a month for 12 to 18 months.
The other three had the drug administered the same way every two weeks for 18 months.
Since cyclodextrin does not cross into the brain from the bloodstream, the drug must be in injected into the spinal column by lumbar puncture, an outpatient procedure often referred to as a spinal tap.
The study did not have a control group that received a placebo, so researchers compared the patients' progression with historical data collected from past NPC patients.
Doctors then used a specialized scoring system to measure disease progression.
Niemann-Pick Type C (NPC) is a disease where patients are unable to metabolize cholesterol and other lipids properly within their cells.
Excessive amounts of cholesterol then accumulate within the liver and spleen, and excessive amounts of other lipids accumulate in the brain.
Signs and symptoms:Vertical gaze palsy (the inability to move the eyes up and down) Enlarged liver Enlarged spleen Jaundice in young children
In most cases, neurological symptoms begin appearing between the ages of four and 10.
Generally, the later that neurological symptoms begin, the slower the progression of the disease.
NPC causes enlarged organs, lung damage, and slow and steady neurological deterioration. Patients are eventually unable to walk, talk or even breathe.
There are an estimated 500 cases diagnosed worldwide.
Doctors say there may be more, but that people confuse the disease with a learning disability or clumsiness.
There is currently no cure for NPC. Half of children die by age 10 and the majority will die before age 20.
A late onset of symptoms can lead to a longer life span, but it is extremely rare for any person with NPC to reach age 40.
Source: National Niemann-Pick Disease Foundation
The test, which is called the NPC Neurological Severity Score, helps assess eye movement, gait, speech, swallowing, fine motor skills, cognition, hearing, memory and presence and severity of seizures.
In each category, patients can score zero to five points, with zero indicating normal function and five indicating severe disability or loss of that category of function.
NPC affects about one in 100,00 births, though Dr Ory pointed out that it is underdiagnosed and genetic testing suggests it is close to one in 40,000.
The cholesterol buildup characteristics affect organs other than the brain, such as the liver and the spleen, but neurological symptoms are often the first warning sign.
The age that symptoms begin to show up varies a lot between sufferers, but learning delays and clumsiness often emerge in early childhood. Those symptoms are followed by progressive loss of brain function, including loss of motor control, hearing, speech and cognition.
Most patients die 10 to 15 years after onset of the symptoms.
Cyclodextrin is a sugar molecule that has been used as a minor ingredient for other pharmaceuticals because it helps compounds dissolve in water. It is also an active ingredient in Febreze.
NPC causes cholesterol to become trapped in cellular compartments called lysosomes, and cyclodextrin appears to release it.
The cholesterol can then be metabolized and removed from the cell.
After the 18 month treatment, seven of the 14 patients saw one-point improvements in their scores in one or two categories compared with their baseline scores in those categories.
The remaining seven either remained unchanged or experienced worsening scores. Though, on average, their scores worsened less than patients in the historical comparison group.
The historical data showed patients' scores increased - meaning the disease worsened - an average of 2.9 points per year. In contrast, the scores of trial patients increased an average of 1.2 points yearly, a difference that is statistically significant.
The improvements compared with the historical data were seen most in gait, cognition and speech.
'Some of the patients began this trial without the ability to speak, and now they speak,' Dr Ory said.
'There is a slowing of the decline, but we were surprised to see trends toward improvement in a few categories. Compared with the historical data, half of the patients in this study saw an improvement or no worsening in the neurological severity score.'
However, hearing loss, a symptom of NPC, was also a major adverse effect of the drug.
'Cyclodextrin therapy accelerates the hearing loss