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Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families

Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families
NetworksNewsNews for Patients

A new project for persons with Smith-Lemli-Opitz syndrome (SLOS) – the SLOS Natural History project – has started. It aims to better understand the different aspects of SLOS and how they change during lifetime. The goal is to improve counselling of families and establish strategies for therapeutic interventions and long-term healthcare. General symptoms in infancy like feeding difficulties and recurrent vomiting as well as problems in later life, such as sleep difficulties, autism and complex behaviour affecting the families, will be analysed.

The cause of SLOS is an error in the synthesis of cholesterol. Mildly affected persons may have no or minor inborn signs, near-normal cognitive function, but often behavioural problems. A more severe impact of SLOS can be life threatening and involve malformations of many organs.

The patient representatives for SLOS are now looking for more European families affected by Smith-Lemli-Opitz syndrome (SLOS) to inform them about the project. Information and links to the survey in 16 languages have been disseminated via rare disease organisations and the HCPs in MetabERN. The links are available below.

The survey contains questions about symptoms of SLOS that affect the health of the child and the everyday life in the family. The families are invited to join a project network and offered to receive more information about the project. There will also be a possibility to share pseudonymized disease-related data with U-IMD.

The project leader is Dr Dorothea Haas at Heidelberg University Hospital, a member of MetabERN and U-IMD, MetabERN’s official registry, that will be the platform of the study.

 

More information

The patient representatives in MetabERN for Smith-Lemli-Opitz syndrome:

Karin Mossler, Antje Enekwe and Anne Kalweit: Parentsslosnh @ metab.ern-net . eu

The project leader Dorothea Haas:  Dorothea.Haas @ med.uni-heidelberg . de

 

Languages Links to information and the SLOS survey in 16 languages
Bulgarian Survey Link
Information Letter
Czech Survey Link
Information Letter
German Survey Link
Information Letter
Danish Survey Link
Information Letter
Greek Survey Link
Information Letter
English Survey Link
Information Letter
Spanish Survey Link
Information Letter
French Survey Link
Information Letter
Hungarian Survey Link
Information Letter
Italian Survey Link
Information Letter
Dutch Survey Link
Information Letter
Norwegian Survey Link
Information Letter
Polish Survey Link
Information Letter
Portuguese Survey Link
Information Letter
Romanian Survey Link
Information Letter
Swedish Survey Link
Information Letter

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Last News & Events

  • EJP RD workshop – The Blood-Brain Barrier: current research and novel therapeutic crossing approaches
  • Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families
  • Rare disease education in Europe – read the new publication
  • Rare Diseases events under the Czech EU Council Presidency
  • MetabERN Board meeting in Prague, 13-15 October 2022
  • EJP Research Mobility Fellowship is now open
  • First Italian National Meeting on Rare Inherited Metabolic Diseases in Adults
  • IRDiRC Diagnostic Scientific Committee Nomination Call

Activities

  • Publications and Guidelines
  • Unified Registry for Inherited Metabolic Disorders
  • Projects

Disclaimer

MetabERN is a European Reference Network (ERN) approved by the ERN Board of Member States.
The ERNs are co-funded by the European Commission.
For more information about the ERNs and the EU health strategy, please visit ec.europa.eu/health/ern
The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union.

For more information please contact
Prof. Maurizio Scarpa, MD, PhD
MetabERN Coordinator

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