Dataset Information

Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

ABSTRACT:

Purpose of review

Registries provide 'real world' perspectives on the natural history and outcomes for many clinical conditions. The purpose of this review is to identify registries for nonmalignant hematological disease and to describe the operation of a successful long-term registry for patients with severe chronic neutropenia.

Recent findings

There was an upswing in registries about 20 years ago, based on optimism about their utility to improve patient care. To show value, registries must define outcomes for populations of patients with specific medical conditions and the effects of treatment. This is challenging for many reasons. The Severe Chronic Neutropenia International Registry is an example of a successful registry. This report describes underlying reasons for its success.

Summary

Registries are important to organize and analyze clinical information across geographic, ethnic and social boundaries. They are also challenging to organize, administer and support.

SUBMITTER: Dale DC

PROVIDER: S-EPMC7236759 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Dale David C DC Bolyard Audrey Anna AA Steele Laurie A LA Zeidler Cornelia C Welte Karl K

Current opinion in hematology 20200101 1

<h4>Purpose of review</h4>Registries provide 'real world' perspectives on the natural history and outcomes for many clinical conditions. The purpose of this review is to identify registries for nonmalignant hematological disease and to describe the operation of a successful long-term registry for patients with severe chronic neutropenia.<h4>Recent findings</h4>There was an upswing in registries about 20 years ago, based on optimism about their utility to improve patient care. To show value, regi ...[more]

PMID: 31764167

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Project description:BackgroundWHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and Myelokathexis. The long term follow up of eight patients highlights the clinical heterogeneity of this disease as well as the main therapeutic approaches and remaining challenges in the light of the recent development of new CXCR4 inhibitors.ObjectiveThis study aims to describe the natural history of WS based on a French cohort of 8 patients.MethodsWe have reviewed the clinical, biological and immunological features of patients with WS enrolled into the French Severe Chronic Neutropenia Registry.ResultsWe identified four pedigrees with WS comprised of eight patients and one foetus. Estimated incidence for WS was of 0.23 per million births. Median age at the last visit was 29 years. Three pedigrees encompassing seven patients and the fetus displayed autosomal dominant heterozygous mutations of the CXCR4 gene, while one patient presented a wild-type CXCR4 gene. Two subjects exhibited congenital conotruncal heart malformations. In addition to neutropenia and myelokathexis, all patients presented deep monocytopenia and lymphopenia. Seven patients presented repeated bacterial Ears Nose Throat as well as severe bacterial infections that were curable with antibiotics. Four patients with late onset prophylaxis developed chronic obstructive pulmonary disease (COPD). Two patients reported atypical mycobacteria infections which in one case may have been responsible for one patient's death due to liver failure at the age of 40.6 years. HPV-related disease manifested in five subjects and progressed as invasive vulvar carcinoma with a fatal course in one patient at the age of 39.5 years. In addition, two patients developed T cell lymphoma skin cancer and basal cell carcinoma at the age of 38 and 65 years.ConclusionsContinuous prophylactic anti-infective measures, when started in early childhood, seem to effectively prevent further bacterial infections and the consequent development of COPD. Long-term follow up is needed to evaluate the effect of early anti-HPV targeted prophylaxis on the development of skin and genital warts.

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Dataset Information

Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Purpose of review

Recent findings

Summary

Publications

Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Similar Datasets

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