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TIRCON's Focus

Neurodegeneration  with  brain  iron  accumulation  (NBIA)  is  a  clinically  and  genetically heterogeneous  group  of  rare  hereditary  neurodegenerative  disorders  characterized  by  high  levels  of brain  iron. Many NBIA  cases  are characterized by early childhood onset and rapid progression to disability and death.  The most frequent form of NBIA is Pantothenatekinase- associated neurodegeneration (PKAN). Currently, there is  no  proven  therapy  to  halt  or  reverse  PKAN  or  any  other  form  of  NBIA.  This is especially unfortunate as both the iron accumulation in NBIA and the biochemical defect in PKAN are predicted to be amenable to drug-based treatment. Thus, the absence of adequately  powered randomized clinical  trials  is  not  due  to  a  lack  of  therapeutic  options  but  to  the  rarity  of  the  disease,  the  lack  of patient  registries  and  the  fragmentation  of  therapeutic  research  worldwide.

In TIRCON, for the first time, an international group of scientists and clinicians have elaborated a collaborative project with patient representatives and innovative companies committed to orphan products.

TIRCON’s goals are:

  1. the setup of an international NBIA registry
  2. the implementation of a  biobank
  3. the development of biomarkers for the disease
  4. the conduction of a randomized clinical trial of the iron-chelating drug deferiprone in PKAN
  5. the preclinical development of pantethine derivatives for the treatment of PKAN