CHICAGO. (Ivanhoe Newswire) — Neimann-Pick Disease Type “C” is a devastating genetic disease that affects one in 150,000 children. It is often referred to as Childhood Alzheimer’s because children who develop as normal, healthy babies and toddlers start showing signs of physical and cognitive decline by first grade. While most children don’t live past their teens, a promising new treatment appears to slow down the progression of the disease.
Hayley Koujaian was born a happy, healthy, normal baby.
Hayley’s mother Gail Koujaian, told Ivanhoe, “She was a perfect little girl, did all the normal things, made her milestones.”
“Then, around kindergarten, first grade, we could see that she was, you know, a little bit behind her peers,” said Harry Koujaian, Hayley’s father.
By the time she was ten years old Hayley was in a school for students with disabilities and began having seizures.
Hayley has Neimann-Pick Disease Type “C”, a rare, irreversible form of childhood dementia that affects her ability to walk, talk, swallow and think.
Elizabeth Berry-Kravis, MD, a professor of pediatrics, neurological sciences and biochemistry at Rush University Medical Center in Chicago detailed, “Originally it was referred to as Childhood Alzheimer’s because some of the proteins that were accumulating were similar to the proteins that accumulate in Alzheimer’s disease, and because it’s a progressive dementia.” (Read full interview)
While most children don’t live past age 20, Hayley’s progression, at 17 years old now, appears to have slowed down, and the severity of her symptoms have reversed ever since starting a drug currently in clinical trials called Cyclodextrin.
“If you give it before the cells have all degenerated, you can see protection where cells, where not as many of the cells in the brain die,” Dr. Berry-Kravis told Ivanhoe.
Harry described, “As we started increasing the dosage we could definitely start seeing improvements. Better memory, better gait, swallowing was great.”
The trial is now in phase two. It’s not a cure, but the Koujaians hope it will buy them time until a cure is found.
Once in a while the symptoms of Neimann-Pick Disease Type “C” don’t come out until adulthood, and it is often misdiagnosed as early onset Alzheimer’s. One tell-tale sign that someone has Neimann-Pick is the inability to lift their eyes and gaze up.
Contributors to this news report include: Cyndy McGrath, Supervising Producer; Jessica Sanchez, Field Producer; Milvionne Chery, Assistant Producer; Tony D’Astoli, Editor and Videographer.
MEDICAL BREAKTHROUGHS – RESEARCH SUMMARY
TOPIC: Alzheimer’s in Kids?!
REPORT: MB #4144
BACKGROUND: Niemann-Pick Disease Type C is a rare, inherited condition in which the body can no longer metabolize cholesterol and fats which leads to an excess of these substances in the body. An excess of cholesterol in the liver can lead to severe liver disease and an accumulation of fats in the brain can lead to learning disabilities. The disease affects 1 in 150,000 people and it is more common for people who are French Acadians from the Nova Scotia region as well as people of Hispanic descent in regions of Colorado and New Mexico. For those who are diagnosed with the disease in their early childhood, they have a very short life expectancy of 15-20 years because Niemann Pick is generally always fatal. As for adults with the disease, they survive an additional 10-20 years after their diagnosis. For children who show symptoms early on, the progression of the disease is usually faster than people who begin to show symptoms in their adult lives. Symptoms of Niemann-Pick disease vary for everyone. Oftentimes for children between 2 months and 2 years old, common symptoms include abnormal enlargement of the liver/spleen area. In addition, children between the ages of 1-2 with the disease will experience delayed psychomotor development. One of the more common ways to determine if a child has NPC is the impairment of the ability to look upward and downward. Another common symptom that is usually seen in adults is hearing loss. Up to 74% of affected individuals develop significant hearing loss in at least one ear. Other symptoms include clumsiness, trouble with balance/walking, difficulty swallowing or the start of epileptic seizures.
(Source: http://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/ )
TREATMENT: The current treatment methods for the patients are directed towards the specific symptoms that they show. Swallowing difficulties can be monitored by a speech therapist and it also helps the patients to soften and thicken their liquid intake. The patient may eventually need to have a gastronomy tube implanted into his stomach in order for him to eat. This thin tube will allow for the direct transfer of food or medicine. Seizures are difficult to treat especially in the later stages of the disease when they become almost incontrollable. There are certain drugs that help reduce the severity of the seizures. These include tricyclic antidepressants and central nervous system stimulants such as clomipramine, protriptyline or modafinil. Another problem that NPC patients face is sleep. They sometimes experience a variety of sleep abnormalities such as insomnia or even sleep apnea. These can be treated with melatonin and other drugs; i.e. nocturnal sedatives.
(Source: http://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/ )
THERAPIES AND RESEARCH: Despite the fact that NPC is a rare and progressive disease, medication can help ease seizures and spasticity. Miglustat is a novel small molecule therapy that slows the progression of NPC over time which was designed in a series of test trials. Based on this work, misglustat has now been approved in more than 40 different countries, just not in the U.S yet.
(Source: http://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/ )
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Deb Song
Media Relations
312-942-0588
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
