Sub-regional and Global SCD Networks - Jacques Elion

Sub-regional and Global SCD networks Jacques Elion, MD, PhD

French National Reference Centers for Sickle Cell Disease

Department of Medical Genetics and Inserm UMR 1134

Robert Debré Mother and Child University Hospital, 75019 Paris, FranceGuadeloupe University Hospital, 97139 Les Abymes (French West Indies)

University of São Paulo, FMRP-USP, Brazil

[email protected]

GLOBAL GLOBIN 2020 CHALLENGEParis May 30-31, 2016

SCD is not a disease from the black people only

SC global geographic distribution

• The years lived with disability (YLDs) for hemoglobino-pathies and SCD is 10,197, a dramatic observation since the YLDs for cardiovascular disorders is 21,985

• The disabilitity-adjusted life years (DALYs) to measure the disease burden for hemoglobinopathies and SCD is 15,640, an impressive figure compared to the DALYs for diabetes that is 75,000

Murray et al. The Lancet 2012; Vos T eet al The Lancet 2012Murray et al. The Lancet 2012; Vos T eet al The Lancet 2012

Courtesy of Courtesy of Lucia De Franceschi

The burden of the hemoglobinopathies

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2016:… SCD still raises major unresolved issues and challenges

high contrast between:- a single mutation ...the extreme variability of the clinical presentation

- exquisitely detailed pathophysiology …only one efficient drug: hydroxycarbamide

- SCD in the Northern hemisphere …SCD in the developing countries

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genotype – phenotype correlation interaction gene – environment

In the North, increase in life expectancy in SCD coincides with the advances of research

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USA

This progress is impressive but interestingly results mostly from rather simple interventions

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Worldwide disparity of resources

The number of SCD patients in India is probably equivalent to that in sub-Saharan AfricaBrazil is by far the country with the largest number of patients in the Americas

approx.

- 100 000 SCD patients in the US

- 50 000 SCD patients in Europe

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SCD Babies life expectancyWealthy CountriesPoor Countries

95% 5%

SSA and IndiaRest of the World

5%95%

Birth 6 ms

6 ms 60 ms

5 yrs 15 yrs

The Two Worlds of SCD

10% 99%

Courtesy of Mohamed C. RahimyInserm U1134

Cartograms of the estimated number of newborns with SCD 2010-2050

Courtesy of Fred PielInserm U1134

Systematic screening Experimental screening

Priority 1: extend newborn screening and comprehensive care programs

Beginning of the 21st Century:the genome era and a ‘new’ medicine

20th CenturyTreat disease when symptoms appear and normal function is lost

Did not undestand the molecular and cellular events that lead to disease

Expensive in financial and disability cost

21st CenturyIntervene before symptoms appear and preserve normal function as long as possible

Understand preclinical events and detect patients at risk

Orders of magnitude more effective

Courtesy of Susan B. Shurin, NIH, NHLBI

Priority 2:Establish the conditions for fine phenotype determination

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Why conducting research in the developing world?

a unique opportunity to dissect the respective part of genetic versus environmental factors

Clinical diversity and genomic research

SCD populations in the North are mixed

Africa and India provide - phenotypic diversity - genetic diversity - environmental diversity

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Why conducting research in the developing world?

this can be achieved only via equitable and sustainable North-South, South-South, and global networks promoting international collaboration

Clinical diversity and genomic research

SCD populations in the North are mixed

Africa and India provide - phenotypic diversity - genetic diversity - environmental diversity

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REDAC

Africa (1)

Examples of successful regional networks

The Central African SCD network - Cameroon Angola - DRC Ouganda - Congo Zambia - CAR Kenya - Gabon Burundi - Tanzania Rwanda - South Sudan

CADRE studySCD cardiovascular aspectsBrigitte Ranque, Xavier Jouven et al

Laboratoire d’Excellence GR-ExCoordonnation: Olivier Hermine

Research Networks

Cohort of 5.000 patients


Africa (2)

SickleCHARTA

NIH

Sanger Institute

PI: Julie MakaniTanzania

Establish a network of Excellence SCD Centres in Africa

- Epidemiological genetics GWAS studies- Healthcare- Training

Cohort: goal 10.000 SCD patients


Caribbean Network

11 Caribbean countries

- Newborn screening- Follow-up- Education- Research

Relationship between Acute Chest Syndrome and the sympatho-vagal balance in adults with hemoglobin SS disease; a case control study Knight-Madden JM, Connes P, Bowers A, Nebor D, Hardy-Dessources MD, Romana M, Reid H, Pichon AP, Barthélémy JC, Cumming VB, Elion J, Reid M. 2012, sous presse.

President : MD Hardy-Dessources


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The importance of local management in reinforcing the wholeGSCDN and the regional SCD Networks

CARESTREDAC

GLOBAL SICKLE CELL

DISEASENETWORK

The Global SCD Network

• Mission– Furthering research and advancing clinical

care globally• Goals

– Facilitate North-South, South-South and triangular partnerships

• Research• Training• Education• Clinical programs

Medical Director: Isaac OdameSickKids Hospital, TorontoInternational Advisory Board: Jacques Elion, Chairman

The Global SCD Network

• Natural history and newborn screening• Infectious diseases and SCD• Hydroxyurea treatment in developing

countries • Genetic factors in phenotypic diversity• Laboratory and data management

Working groups

www.globalsicklecelldisease.org

GSCDN Website

http://www.globalsicklecelldisease.org/

Interactive Treatment Centres Map

http://globalscd.ning.com

GSCDN ‘Ning’ Online Community

Foundational and Transformative GSCDN

NINGSiteGSCDN Website

Foundational Transformative Visionary

Establish Int’l Advisory Council

HIGH

HIGH

LOWLevel of Effort to Implement

IMMEDIATE PRIORITIES SHORT /MEDIUM TERM PRIORITIES

LONG TERM PRIORITIES

* Red line indicates maturity curve

GSCDN Conference at CDC

Published data of SCD related mortality

Foster Partnerships; start with CDC, UNESCO

SCD Centre Planning

1 SCD Model CentreImplement ProgramsIn 3 or 4 LICs

Standard SC Centre Model Rollouts

SCD Leader, WHO Partner , Continued SC Centre Expansion

Sickle cell disease in Africa: a neglected cause of early childhood mortality.Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN.Am J Prev Med. 2011

http://www.ncbi.nlm.nih.gov.gate2.inist.fr/pubmed/22099364

Courtesy of Leon Tshilolo

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Sub-regional and Global SCD Networks - Jacques Elion

Science

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