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

Haessler, Frank; Gaese, Franziska; Colla, Michael; Huß, Michael; Kretschmar, Christoph; Brinkman, Marc; Schieb, Heike; Peters, Helmut; Elstner, Samuel; Pittrow, David

doi:10.1186/1471-244x-13-339

Cited by 4 publications

(4 citation statements)

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“…For example, the data collection tools used in FORWARD were shared with a group of fragile X clinicians and researchers in Germany working to create a similar data resource, referred to as EXPLAIN. 44 The potential outcome will be the ability to compare and contrast clinical outcomes of FXS in different clinical and cultural settings. Use of the same tools and variables in longitudinal studies of other neurologic disorders will also increase understanding of the commonalities among ID and behavioral disorders and potentially lead to new discoveries.…”

Section: Discussionmentioning

confidence: 99%

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

et al. 2017

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BACKGROUND AND OBJECTIVE Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection. This report describes FORWARD and the way it can be used to improve health and quality of life of FXS patients and their relatives and caregivers. METHODS FORWARD collects demographic information on individuals with FXS and their family members (affected and unaffected) through a 1-time registry form. The longitudinal database collects clinician- and parent-reported data on individuals diagnosed with FXS, focused on those who are 0 to 24 years of age, although individuals of any age can participate. RESULTS The registry includes >2300 registrants (data collected September 7, 2009 to August 31, 2014). The longitudinal database includes data on 713 individuals diagnosed with FXS (data collected September 7, 2012 to August 31, 2014). Longitudinal data continue to be collected on enrolled patients along with baseline data on new patients. CONCLUSIONS FORWARD represents the largest resource of clinical and demographic data for the FXS population in the United States. These data can be used to advance our understanding of FXS: the impact of cooccurring conditions, the impact on the day-today lives of individuals living with FXS and their families, and short-term and long-term outcomes.

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Section: Discussionmentioning

confidence: 99%

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

et al. 2017

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“…Details of the study protocol have been reported earlier [21]. The study was conducted in accordance with the local laws and regulations [22, 23].…”

Section: Methodsmentioning

confidence: 99%

“…The present study is a prospective observational (non-interventional) study (registry) in Germany. Details of the study protocol have been reported earlier [ 21 ]. The study was conducted in accordance with the local laws and regulations [ 22 , 23 ].…”

Section: Methodsmentioning

confidence: 99%

Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study

et al. 2016

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BackgroundAs data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients.MethodsEXPLAIN-FXS is a prospective observational (non-interventional) study (registry) performed between April 2013 and January 2016 at 18 sites in Germany. Requirements for patient participation included confirmed diagnosis of FXS by genetic testing (>200 CGG repeats) and written informed consent. Patients were followed for up to 2 years.ResultsSeventy-five patients (84.0 % males, mean age 16.7 ± 14.5 years, ranging from 2 - 82 years) were analysed. The mean 6-item score, determined according to Giangreco (J Pediatr 129:611-614, 1996), was 6.9 ± 2.5 points. At least one neurological finding each was noted in 53 patients (69.7 %). Specifically, ataxia was noted in 5 patients (6.6 %), lack of fine motor skills in 40 patients, (52.6 %), muscle tonus disorder in 4 patients (5.3 %), and other neurological disorders in 39 patients (51.3 %). Spasticity was not noted in any patient.Seizures were reported in 6 patients (8.1 %), anxiety disorders in 22 patients (30.1 %), depression in 7 patients (9.6 %), ADHD/ADD in 36 patients (49.3 %), impairment of social behavior in 39 patients (53.4 %), and other comorbidities in 23 patients (31.5 %). The mean Aberrant Behaviour Checklist Community Edition (ABC-C) score on behavioral symptoms, obtained in 71 patients at first documentation, was 48.4 ± 27.8 (median 45.0, range 5-115). The mean visual analogue scale (VAS) score, obtained in 59 patients at first documentation, was 84.9 ± 14.6 points (median 90; range 50 – 100).ConclusionsThis report describes the largest cohort of patients with FXS in Europe. The reported observations indicate a substantial burden of disease for patients and their caregivers. Based on these observations, an early expert psychiatric diagnosis is recommended for suspected FXS patients. Further recommendations include multimodal and multi-professional management that is tailored to the individual patient’s needs.Trial registrationThe ClinTrials.gov identifier is NCT01711606. Registered on 18 October 2012.

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“…Eine systematische Erfassung von klinischen und psychosozialen Charakteristika der Betroffenen sowie Behandlungswegen fehlt in Europa. Genau diese Erfassung hat die Studie FragilE X Registry: An exPlorative Longitudinal study for chAracterization, treatment pathways and patient-related outcomes (EXPLAIN) zum Ziel [6].…”

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Psychiatrische und soziale Aspekte bei Patienten mit fragilem X-Syndrom (FRX)

et al. 2015

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

Cited by 4 publications

References 28 publications

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study

Psychiatrische und soziale Aspekte bei Patienten mit fragilem X-Syndrom (FRX)

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