Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)

Clarke, Joe T.R.; Giugliani, Roberto; Sunder‐Plassmann, Gere; Elliott, Perry; Pintos-Morell, Guillem; Hernberg‐Ståhl, Elizabeth; Malmenäs, Maria; Beck, Michael

doi:10.1016/j.jval.2011.05.002

Cited by 11 publications

(20 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Disease registries, especially for rare diseases, are becoming valuable resources for obtaining and reporting information [Basso et al, 2004; Moss and Schwartz, 2005; Wilkinson et al, 2010; Byrne et al, 2011; Clarke et al, 2011]. Centralized longitudinal and natural history data as well as the potential to link specific clinical data with DNA or tissue specimens are becoming useful tools for evaluating pathophysiology, genotype–phenotype correlation, genetic modifiers, and potential therapies [Basso et al, 2004; Moss and Schwartz, 2005; Wilkinson et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

“…Centralized longitudinal and natural history data as well as the potential to link specific clinical data with DNA or tissue specimens are becoming useful tools for evaluating pathophysiology, genotype–phenotype correlation, genetic modifiers, and potential therapies [Basso et al, 2004; Moss and Schwartz, 2005; Wilkinson et al, 2010]. Registries are also recognized for the potential to evaluate outcomes and efficacies of certain therapies [Basso et al, 2004; Clarke et al, 2011] and are increasingly being used by industry for this purpose in rare diseases [Byrne et al, 2011; Clarke et al, 2011].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

Roberts

Nixon

Steward

et al. 2012

American J of Med Genetics Pt A

114

174

View full text Add to dashboard Cite

Barth syndrome (BTHS); MIM accession # 302060) is a rare X‐linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities. The objectives of this study were to further elucidate the natural history, clinical disease presentation, and course, and describe growth characteristics for males with BTHS. Patients with a confirmed genetic diagnosis of BTHS are referred to the BTHS Registry through the Barth Syndrome Foundation, self‐referral, or physician referral. This study is based on data obtained from 73 subjects alive at the time of enrollment that provided self‐reported and/or medical record abstracted data. The mean age at diagnosis of BTHS was 4.04 ± 5.45 years. While the vast majority of subjects reported a history of cardiac dysfunction, nearly 6% denied any history of cardiomyopathy. Although most subjects had only mildly abnormal cardiac function by echocardiography reports, 70% were recognized as having cardiomyopathy in the first year of life and 12% have required cardiac transplantation. Of the 73 enrolled subjects, there have been five deaths. Growth curves were generated demonstrating a shift down for weight, length, and height versus the normative population with late catch up in height for a significant percentage of cases. This data also confirms a significant number of patients with low birth weight, complications in the newborn period, failure to thrive, neutropenia, developmental delay of motor milestones, and mild learning difficulties. However, it is apparent that the disease manifestations are variable, both over time for an individual patient and across the BTHS population. © 2012 Wiley Periodicals, Inc.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

Roberts

Nixon

Steward

et al. 2012

American J of Med Genetics Pt A

114

174

View full text Add to dashboard Cite

show abstract

“…For example, it was shown that 2 years of GH replacement therapy reduced the risk of cardiovascular events by 50%, and that male sex and high total cholesterol were potential predictors of this response [30]. Similarly, the Fabry Outcome Survey (FOS), established in 2001 as an industry-sponsored, physician-directed registry of patients with Fabry disease (FD), a rare lysosomal storage disorder, has made an important contribution to the understanding of both the disease and the patients’ real-world experience of enzyme replacement therapy [31]. In other rare diseases, registries have proven valuable for revealing shortcomings of current treatment (e.g.…”

Section: Discussionmentioning

confidence: 99%

European Adrenal Insufficiency Registry (EU-AIR): a comparative observational study of glucocorticoid replacement therapy

Ekman

Marelli²,

Murray

et al. 2014

BMC Endocr Disord

View full text Add to dashboard Cite

BackgroundIncreased morbidity and mortality associated with conventional glucocorticoid replacement therapy for primary adrenal insufficiency (primary AI; estimated prevalence 93–140/million), secondary AI (estimated prevalence, 150–280/million, respectively) or congenital adrenal hyperplasia (estimated prevalence, approximately 65/million) may be due to the inability of typical glucocorticoid treatment regimens to reproduce the normal circadian profile of plasma cortisol. A once-daily modified-release formulation of hydrocortisone has been developed to provide a plasma cortisol profile that better mimics the daytime endogenous profile of cortisol. Here, we describe the protocol for the European Adrenal Insufficiency Registry (EU-AIR), an observational study to assess the long-term safety of modified-release hydrocortisone compared with conventional glucocorticoid replacement therapies in routine clinical practice (ClinicalTrials.gov identifier: NCT01661387).MethodsPatients enrolled in EU-AIR have primary or secondary AI and are receiving either modified-release or conventional glucocorticoid replacement therapy. The primary endpoints of EU-AIR are the incidence of intercurrent illness, adrenal crisis and serious adverse events (SAEs), as well as the duration of SAEs and dose changes related to SAEs. Data relating to morbidity, mortality, adverse drug reactions, dosing and concomitant therapies will be collected. Patient diaries will record illness-related dose changes between visits. All decisions concerning medical care are made by the registry physician and patient. Enrolment is targeted at achieving 3600 patient-years of treatment (1800 patient-years per group) for the primary analysis, which is focused on determining the non-inferiority of once-daily modified-release replacement therapy compared with conventional glucocorticoid therapy.ResultsRecruitment began in August 2012 and, as of March 2014, 801 patients have been enrolled. Fifteen centres are participating in Germany, the UK and Sweden, with recruitment soon to be initiated in the Netherlands.ConclusionsEU-AIR will provide a unique opportunity not only to collect long-term safety data on a modified-release preparation of glucocorticoid but also to evaluate baseline data on conventional glucocorticoid replacement. Such data should help to improve the treatment of AI.

show abstract

“…The use of healthcare claims databases to assess at UNIV OF GUELPH on February 3, 2015 tah.sagepub.com Downloaded from treatment cost and outcomes has proved valuable in this regard, and several strategies are now available to optimize datasets obtained from such studies [Motheral and Fairman, 1997]. Furthermore, patient registries allow the natural history and response to treatment of rare diseases to be studied in greater depth than would otherwise be achievable [Clarke et al 2011]. Overall, the value of observational studies lies in their focus on everyday clinical practice, reflecting the differences between consecutive patients that make treatment decisions so interesting and, in some cases, so challenging.…”

Section: Observational Studies: Complementary To Randomized Controllementioning

confidence: 99%

The role of observational studies in optimizing the clinical management of chronic myeloid leukemia

Mauro

Davis

Zyczynski

et al. 2014

Therapeutic Advances in Hematology

View full text Add to dashboard Cite

Survival has increased dramatically for patients with chronic phase chronic myeloid leukemia (CP-CML) using BCR-ABL targeted tyrosine kinase inhibitors, such that life expectancy is expected to approximate that of patients without CP-CML. Randomized controlled trials (RCTs) and observational studies provide valuable insights into the management of chronic diseases such as CP-CML. RCTs are undoubtedly the backbone of clinical research, and the 'gold standard' for evaluating the efficacy and safety of new therapies. However, many questions surrounding the optimal management of patients with CML remain unanswered, and it is widely accepted that these questions will be best answered by evaluating the use of available therapies in clinical practice. Observational studies can extend the knowledge base beyond the clinical trial setting and thus capture a more accurate picture of everyday clinical practice, particularly patients' experiences of long-term CML treatment. There is therefore growing interest in and appreciation of the value of observational research. This review article will examine the relative merits of RCTs and observational studies in the setting of CML, highlighting those factors - such as the advancing age of the CML patient population and growing importance of patient-reported outcomes - that mean that observational studies should play an important role in shaping clinical practice. This article also provides an overview of what observational studies have told us thus far about the optimal management of patients with CML, outlines some of the key remaining unanswered clinical questions in CML, and summarizes ongoing observational studies designed to provide answers to these key questions.

show abstract

Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)

Abstract: We conclude that the measures introduced in 2005 significantly improved the value of the information in the registry, which has contributed greatly to our understanding of patients' real-world experience with enzyme replacement therapy for Fabry disease.

Cited by 11 publications

References 12 publications

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

European Adrenal Insufficiency Registry (EU-AIR): a comparative observational study of glucocorticoid replacement therapy

The role of observational studies in optimizing the clinical management of chronic myeloid leukemia

Contact Info

Product

Resources

About