In an international study, scientists of the University Medical Center Hamburg-Eppendorf (UKE) have discovered a new therapeutic approach for Late Infantile Neu-ronal Ceroid Lipofuscinosis (CLN2) – a form of childhood dementia. Enzyme replace-ment therapy with cerliponase alfa can have beneficial effects.
It was possible to stop the illness from progressing for two thirds of the patients. The synthetic enzyme is introduced into the subarachnoid space of the patient via a cathe-ter every 14 days. The scientists have now published their findings in the New England Journal of Medicine.
"So far, the only treatment available to CLN2 patients has been palliative care. This situation has been fundamentally changed by the approval of an enzyme replacement therapy, which was researched by UKE doctors. The study has shown that this is the first form of therapy that can counter the rapid progress of the illness", said Professor Dr. Ania C. Muntau, Director of the Children's Clinic.
"The earlier CLN2 is diagnosed and treatment is started, the higher the chances are for the therapy to be successful, enabling the children who have acquired the illness to be able to maintain speech for longer and to move independently. But this illness is often discovered too late because it is very rare.
Therefore, I would wish that it would soon be possible in Germany to test all children for CLN2 as part of a screening procedure for newly born", said Dr. Angela Schulz, the director of the internation-al study and the consultation hour for degenerative brain diseases (focus "Childhood Dementia NCL") at the Children's Clinic at UKE.
Neuronal ceroid lipofuscinosis (CLN2)
Neuronal ceroid lipofuscinosis (NCL) is a rare illness. The most frequent form is subtype CLN2, where the enzyme tripeptidyl peptidase I (TPP1) is not, or not sufficiently, formed. Thus, the pigment cerois lipofuscin accumulates in the brain cells, which initially lose their function, and ultimately die.
Usually, children with CLN2 develop normally up to the age of three. The only indication can be the delayed development of the children's speech. The first symptoms only become apparent between the second and fourth year. The children have severe epileptic seizures, and language and motor skills regress. In their fifth year, children can no longer sit or stand, and require a wheelchair. They become bedridden, blind, and usually die early.
The international multi-centric study
24 CLN2 patients between the age of three and eight received enzyme replacement therapy with cerliponase alfa every 14 days for at least 96 weeks as part of the international, multi-centric study. The scientists in the study centres in Hamburg, London, Rome and Columbus (USA) documented the development of motor skills and language with a point based system, and compared the course of the disease with 42 historical patients who had not been treated with enzyme replacement.
The his-torical comparative data had previously been collected and evaluated as part of the European Framework Programme (FP7) DEM-CHILD coordinated at UKE by Dr. Schulz. The comparison with untreated children showed that the symptoms of patients who received enzyme replacement thera-py worsened significantly more slowly than those of the historical group of patients: on average, treated patients only lost 0.38, but untreated patients lost 2.0 points per year.
Research of rare illnesses at Children's UKE
Children's UKE, the Werner and Michael Otto University Children's Clinic (Werner und Michael Otto Universitätskinderklinik, Kinder-UKE), treats the most important pediatric illnesses. The particular focus is on severe, rare, complex, and undetermined illnesses such as metabolic disorders, neurologi-cal illnesses, various types of cancer, and liver, kidney, and bone marrow transplants.
Furthermore, the development of innovative treatment methods for children with rare illnesses belongs to the core tasks of the Children's UKE. Thus, the scientists conduct basic research to improve understanding of the mechanisms which cause the illness. They also develop medication and lead international ap-proval studies.
Schulz A. et al., Study of Intraventricular Cerliponase Alfa for CLN2 Disease, New England Journal of Medicine 2018
Please follow this link for photographs on the subject of NCL: www.uke.de/pressebilder
Dr. Angela Schulz
Klinik und Poliklinik für Kinder- und Jugendmedizin
Universitätsklinikum Hamburg-Eppendorf (UKE)
Telephone: 040 7410-20440
Saskia Lemm | idw - Informationsdienst Wissenschaft
WAKE-UP provides new treatment option for stroke patients | International study led by UKE
17.05.2018 | Universitätsklinikum Hamburg-Eppendorf
Do microplastics harbour additional risks by colonization with harmful bacteria?
05.04.2018 | Leibniz-Institut für Ostseeforschung Warnemünde
The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.
Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...
A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.
The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
25.05.2018 | Event News
02.05.2018 | Event News
13.04.2018 | Event News
25.05.2018 | Event News
25.05.2018 | Machine Engineering
25.05.2018 | Life Sciences