research 8 steps from Black Bone Disease Dr Nicolas Sireau - - PowerPoint PPT Presentation

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research 8 steps from Black Bone Disease Dr Nicolas Sireau - - PowerPoint PPT Presentation

Jan 01, 2023 387 likes •866 views

Open collaboration for research 8 steps from Black Bone Disease Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure 1902: Sir Archibald Garrod Harwa Oldest AKU Patient 1500BC Stenn et al 1977 Step 1:

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Open collaboration for research

8 steps from Black Bone Disease

Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure

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1902: Sir Archibald Garrod

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Harwa

Oldest AKU Patient 1500BC

Stenn et al 1977

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Step 1:

Working with scientists to understand the disease

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Metabolic pathway

Alkaptonuria

Tyrosinaemia type 1

Albinism Phenylketonuria Nitisinone DOPA Melanin

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The AKU tetrad

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Effects on spine

Sofia Michopoulou & Andrew Todd Pokropek

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A cell model

AKU Research Team

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AKU mouse model

Springer-Verlag

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Nitisinone

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Nitisinone reduces homogentisic acid by

95%

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Urinary HGA

National Institutes of Health

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Urinary HGA

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Step 2:

Working with clinicians for a centre of excellence

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The Robert Gregory National Alkaptonuria Centre

Funded by NHS England

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Step 3:

Working with clinical trial centres

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Trial Name Description Sites SONIA 1: Suitability of Nitisinone in Alkaptonuria 1 3-month phase II study UK/Slovakia SONIA 2: Suitability of Nitisinone in Alkaptonuria 2 4-year phase III UK/Slovakia/France SOFIA: Subclinical Ochronosis Features in Alkaptonuria Cross-sectional study UK

Three Studies

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1) Liverpool, UK Royal Liverpool University Hospital PI: Prof L Ranganath 2) Paris, France Hôpital Necker PI: Prof Pascale de Lonlay 3) Piešťany, Slovakia National Institute of Rheumatic Disease PI: Prof Jozef Rovenský

Three Clinical Trial Sites

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Step 4:

Working as a consortium with industry

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The DevelopAKUre partners

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Step 5:

Working with patients around the world

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A global patient movement

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  • Facebook
  • Twitter,
  • Google +,
  • Pinterest

Social media

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Online communities

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Websites

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AKU Societies in EU, Asia, Middle East and North America

  • AKU Society UK
  • ALCAP (France)
  • AIMAKU (Italy)
  • AKU Society Germany
  • AKU Society Netherlands
  • AKU Society Jordan
  • AKU Society India
  • AKU Society Slovakia
  • AKU Society North America (USA and Canada)
  • AKU Society Belgium (in progress)
  • AKU Society Sweden (in progress)
  • AKU Society Asia (in progress)
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AKU patient Ann

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Prof Ranganath, Coordinator of DevelopAKUre

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"These trials have given us great hope. This treatment could completely change our lives. We’re that one step closer to a cure.”

  • Belgium AKU patient
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AKU patients Brenda, Sharon and Jennifer

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Step 6:

Learning from other patient groups

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Step 7:

Working more broadly with other stakeholders

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Step 8:

Sharing with the wider stakeholder community

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www.findacure.org.uk

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Rare Diseases: Challenges and Opportunities for Social Entrepreneurs

Out now!

With chapters from leaders in the rare disease sector Contact: nick@akusociety .org

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www.akusociety.org nick@akusociety.org