EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome

BMC Psychiatry

David Pittrow²  Samuel Elstner³  Helmut Peters⁴  Heike Schieb⁷  Marc Brinkman⁷  Christoph Kretschmar⁶  Michael Huss⁴  Michael Colla⁵  Franziska Gaese¹  Frank Haessler⁸ 

[1] Abt. Psychiatrische Therapie für Menschen mit Geistiger Behinderung, Isar-Amper-Klinikum gGmbH, Klinikum München-Ost, Haar, Germany;Institut für Klinische Pharmakologie, Medizinische Fakultät, Technische Universität Carl Gustav Carus Dresden, Dresden, Germany;Berliner Behandlungszentrum der Abteilung für Psychiatrie, Psychotherapie und Psychosomatik, Evangelisches Krankenhaus Königin Elisabeth Herzberge gGmbH, Berlin, Germany;Rheinhessen-Fachklinik Mainz, Kinder- und Jugendpsychiatrie, Mainz, Germany;Experimental and Clinical Research Center, Charité – Campus Berlin Buch & Department of Psychiatry and Psychotherapy, Charité – Campus Mitte, Berlin, Germany;Städt. Krankenhaus Dresden-Neustadt, Zentrum für Kinder- und Jugendmedizin - Sozialpädiatrisches Zentrum, Dresden, Germany;Medizinische Abteilung, Novartis Pharma GmbH, Nürnberg, Germany;Zentrum für Nervenheilkunde, Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Universitätsmedizin Rostock, Rostock, Germany

关键词: Caregiver burden;    Quality of life;    Ambulatory setting;    Outcomes;    Health care;    Patient-related outcomes;    Longitudinal;    Observational trial;   

Others  :  1123857
DOI  :  10.1186/1471-244X-13-339

 received in 2013-05-27, accepted in 2013-12-16,  发布年份 2013

【 摘 要 】

Background

Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.

Methods/design

EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years.

Discussion

The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients.

Trial registration

The ClinicalTrials.gov identifier is NCT01711606.

【 授权许可】

   
2013 Haessler et al.; licensee BioMed Central Ltd.

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