Driving research, providing support and improving outcomes for rare disease patients and their families

The Myrovlytis Trust is pleased to launch its call for research proposals dedicated to gene therapy for the rare monogenic disorder Birt-Hogg-Dubé syndrome.  

 

Submission deadline for proposals: 30th August 2021, 5pm (BST) 

Rationale 

 Gene therapies have the potential to transform the lives of those with rare diseases and represent a particularly attractive treatment option for those with monogenic disorders. 

 Virus-mediated gene replacement, somatic genome editing and mRNA therapeutics are under intense investigation presently, with options presented for in vivo and ex vivo therapy development. There are already several approved gene therapies available, for the treatment of congenital retinal dystrophy, transfusion-dependent ß-thalassemia, spinal muscular atrophy and severe combined immunodeficiency. 

 We are delighted to announce an open call for proposals to investigate the potential of gene therapy applied to the rare, autosomal dominant, monogenic disorder Birt-Hogg-Dubé syndrome (BHD), characterised by mutations in the folliculin (FLCN) gene (chromosome 17p11.2).   

 BHD has three manifestations, which first appear in the second or third decade of life: 

  • Skin – Fibrofolliculomas, trichodiscomas and acrochordons on the face, neck and upper torso. 
  • Lung – Air-filled cysts and an increased risk of recurrent pneumothorax 
  • Kidney – Up to 30% of BHD patients develop renal cell carcinoma (usually in the fifth decade of life), with a range of histological types (oncocytoma, chromophobe, papillary, clear cell and oncocytic hybrid). 

We are interested in receiving applications aiming to restore folliculin expression and function using a variety of methods and delivery systems. In the first instance, a 1-page proposal outlining the techniques, model systems for preclinical studies, target organ and route of administration should be sent to grants@myrovlytistrust.org as soon as possible.  

Final decisions on funding will be made in October 2021, with funding to commence in February 2022 or as early as feasibly possible before that date and as agreed between the Myrovlytis Trust and the successful applicant. We may fund multiple proposals, and we are particularly interested in applications with wider relevance to other rare genetic disorders.