Emma Children's Hospital Foundation (Stichting Steun Emma Kinderziekenhuis)

The Foundation Support Emma Children's Hospital aims to raise funds for the Emma Children's Hospital. Funds that help make innovative treatments possible. The money is spent on care, scientific research, good facilities and improving the psychosocial conditions in which children and their parents find themselves in hospital. The hospital and the government have insufficient resources for this.

Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare genetic disorder, affecting the white matter of the brain. It was described for the first time in 1995 by the ‘Amsterdam Group’ of the Amsterdam University Medical Centers, led by Marjo van der Knaap, a Dutch professor of pediatric neurology and winner of the 2008 Spinoza Prize whose research focuses on white matter disorders.

MLC is a progressive condition that affects brain development and function. It is characterized by a larger than usual head circumference in children (infantile-onset macrocephaly), followed by slow motor and cognitive decline. The condition impacts the ability to use muscles, leading to mobility problems. While some lose the ability to walk early in life, others continue to be able to walk unassisted well into adulthood. However, most patients become wheelchair-dependent as teenagers.

People with MLC typically have a shorter than average lifespan, with some individuals succumbing to the disorder in their teens or twenties and others as late as their fifties.

Currently, there is no therapy or treatment available for patients with MLC, however insights into the disease mechanisms of MLC are rapidly increasing. This understanding is critical as it forms the basis of future therapeutic developments. Patient registries are a key tool for scientists researching rare diseases. Understanding the data gathered from these registries is critical to improve treatments. The only clinical database comprising a significant number of patients is the database from the Amsterdam University Medical Centers.

The Foundation Support Emma Children's Hospital aims to raise funds to

1. Form an international consortium on MLC.
2. Create an international registry for MLC patients.
3. Use this registry to advance MLC research through a natural history study.