1^st Menkes International- William de Rycke-Corthier Award (2022)

William de Rycke-Corthier, a one-year-old Belgium boy who suffered from Menkes Disease, recently passed away, waiting for a therapeutic option. In his honor, his family through Voor William (Menkes association Belgium) and Menkes International Association (MIA) would like to present this award for a physician, scientist, investigator or working group who makes an important contribution in the research field of this fatal disease.

Introduction

Menkes disease (MD) is a rare genetic lethal disorder of copper metabolism. Affected patients lack a key protein, ATP7A, partly or completely, which results in functional copper deficiency with neurodegeneration, fair skin, kinky hair, connective tissue abnormalities, and short life span.

Currently, the only clinically approved treatment is Copper–Histidinate (Cu-His) which has shown partial and heterogeneous response depending on residual ATP7A pump activity, early administration- and therefore early diagnosis- and/or other factors, so efforts need to be made to achieve a more effective treatment for this fatal disease.

Why this award is important

Because MD is a rare, orphan and complex disease with a high geographic dispersion of patients, it is difficult to form working teams that are deeply committed to the disease and the consequence is that research in the field is limited.

Being totally aware of this situation, but knowing that an important way to provide a chance of high quality of life to our kids is if the physiopathology & clinical aspects of the disease are fully understood, if an early diagnosis is made and if new therapeutic options appear, the charities Menkes International and Voor William believe that stimulating research in this disease and supporting enthusiastic professionals will make a difference.

Menkes International is dedicated to bringing together patient´s families, doctors and researchers to an information platform that does research and connect stakeholders to fight Menkes disease.

Who may receive this award

Candidates for this award are physicians, scientists and/or investigators who make an important contribution in the research field of this fatal disease, mainly related to early diagnosis, clinical aspects and therapeutic options.

This award recognizes the efforts of professionals who are deeply committed towards this rare disease, knowing that an important way to help our children is to support enthusiastic professionals that will enable future progress in the field.

Award

10,000 euros

Submissions

The award is open to any initiative on Menkes disease related to: Capacity building (such as development of training for clinicians, career development initiatives); early diagnosis; treatment; international cooperation; visibility to Menkes disease.

The award may be declared void if no suitable candidates apply.

The deadline to present submission for the grant is 2 June 2023