A National patient register plays a key role in treatment monitoring and treatment for genetic motor neuron disease

A National patient register plays a key role in treatment monitoring and treatment for genetic motor neuron disease

The disease-specific diagnostics for Genetic Motor Neuron diseases (MND) have advanced a lot recently. Researchers Mari Auranen (Ph.D.) and Emil Ylikallio (Ph.D.) from Helsinki University Hospital are working with a patient register to improve research and treatment for these diseases. For rare diseases, the register plays an important role in allowing researchers and doctors to identify affected patients and to obtain improved and more systematic knowledge about the diseases’ natural progress. The project is a art of Neurocenter Finland’s Rare Disease research pilot.

Mari Auranen and Emil Ylikallio are studying the disease mechanisms of Genetic Motor Neuron Diseases and aiming to create a national patient register that collates data from Finnish patients with different motor neuron diseases. Genetic motor neuron diseases are labeled as rare diseases that occur in less than 1 of 2000 people.

Neurological rare diseases include a wide variety of diseases

Rare neurological diseases include a wide variety of diseases with different symptoms. Many of them affect motoneurons. The study aims to identify where the damage caused by the disease is located and how the damage affects one’s ability to function. Some diseases are hereditary, others may be associated with conditions that contribute to side effects such as degeneration of the peripheral nervous system.

This pilot project for Neurocenter Finland investigates hereditary motor nervous system diseases, particularly diseases occurring in Finland. Researchers have discovered a wide spectrum of such diseases.The study also investigates Amyotrophic Lateral Sclerosis (ALS), a severe neuromuscular disorder that develops in adulthood, and Spinal Muscular Atrophy (SMA), an early childhood disease that causes progressive muscle atrophy. The incidence of both diseases in Finland is less than 300 cases per year.

The national disease register helps in treating rare diseases

Researchers aim to recruit patients to the national register in order to monitor the treatment and treatment-related symptoms more efficiently. The register will e.g. enable patient identification for future experimental treatments and improve our knowledge about the number of patients with such diseases in Finland. Particularly for rare diseases, nationwide registers are important.

Through the research, the patient can also benefit from being in the register. The patient can be identified and directed toward possible treatment options in Finland or abroad. In the future, the register’s data can be used to improve the characterization of the disease’s natural history as well as to improve disease monitoring. The register is highly secure, and no personal patient data is released, apart from the treatment requirements.

Years of research, registry development and upgradation

This project has been going on over the last 10 years in the Neurology clinic of the Helsinki University Hospital (HUS) and at the University of Helsinki. Neurocenter Finland’s pilot project for creating the rare disease and MND register started in 2018. During the pilot phase, collaboration with various hospital districts in Finland and Helsinki Biobank will allow blood- and cellular samples to be collected to identify disease biomarkers and to develop cell culture models to understand disease mechanisms.