Data that empower: The success and promise of CF patient registries

Fink, Aliza K.; Loeffler, Deena R.; Marshall, Bruce C.; Goss, Christopher H.; Morgan, Wayne J.

doi:10.1002/ppul.23790

Cited by 25 publications

(23 citation statements)

References 67 publications

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“…The first CF registry was started in the United States in 1966, and it was then established throughout the United States, Europe, and Oceania . U.S. CF Foundation Patient Registry and ECFSPR are the most comprehensive examples of registries for patients with CF.…”

Section: Discussionmentioning

confidence: 99%

“…U.S. CF Foundation Patient Registry and ECFSPR are the most comprehensive examples of registries for patients with CF. Most CF registries were developed from national patient organizations . Our registry was developed by the “Turkish Pediatric Respiratory Diseases and Cystic Fibrosis Society,” which is the first CF society in Turkey, established in 1995 with the aim of increasing awareness of CF and training health personnel about CF care in the country.…”

Section: Discussionmentioning

confidence: 99%

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Cystic fibrosis in Turkey: First data from the national registry

Doğru

Çakır

Şişmanlar

et al. 2019

Pediatric Pulmonology

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Background Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods The data were collected using a data‐entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo‐Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis in Turkey: First data from the national registry

Doğru

Çakır

Şişmanlar

et al. 2019

Pediatric Pulmonology

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“…Barriers to research for effective treatments include restricted funding support, limited foundational disease-specific knowledge, gaps in understanding of the heterogeneity of the condition, caution around risk-benefit thresholds and clinically meaningful impact for the patient population, small and dispersed patient communities that challenge traditional methodologies, and fragmentation of efforts that impede timely scientific discovery [1,6]. To reduce and mitigate some of these barriers, patient registries are increasingly utilized by experts within the rare disease research field to facilitate learning networks and research collaborations between industry, scientific researchers, regulators, clinicians, community organizations, and patients and families [7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Establishing Patient Registries for Rare Diseases: Rationale and Challenges

et al. 2020

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Globally, an estimated 350 million people are affected by a rare disease diagnosis. Knowledge limitations persist for the majority of rare conditions due to systemic and structural challenges in healthcare and research. Disease-specific patient populations are often small and geographically dispersed; funding support for research is restricted; and diagnostic delays are common due to disease complexities, limited medical training for practitioners, and evolving foundational knowledge related to disease characterization. Patient registries can be effective, convenient, and cost-efficient tools to support documentation of the natural history of a disease, centering patients as research partners in the process while uniting rare communities around a common initiative. Current global trends towards innovative and patient-centered healthcare are enabling patient registries to increasingly emerge as valuable tools for use within rare disease research and drug development. This article describes the value of and rationale for establishing rare disease patient registries and the considerations and challenges that stakeholders, such as researchers, industry, health care providers, and patient community organizations, may encounter.

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“…Children with EPI should be more frequently seen during critical phases that increase the risk of malnutrition such as during infancy, at the time of initial diagnosis, and during pubescent growth spurt. Evidence from CF studies indicates early, aggressive management of nutrition is associated with improved pulmonary function and overall survival . Taking this into consideration, the CFF recommends to follow the anthropometric parameters every month during infancy and every 3 months beyond infancy as part of multidisciplinary CF care .…”

Section: Treatmentmentioning

confidence: 99%

Management of Exocrine Pancreatic Insufficiency in Children

2019

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The diagnosis of exocrine pancreatic insufficiency (EPI) can be difficult, as symptoms may be nonspecific. A delayed diagnosis of EPI can negatively impact health through poor weight gain, impaired growth, and malabsorption of nutrients. Because of active growth and development, children are more vulnerable to the consequences of untreated EPI. Pancreatic enzyme replacement therapy is the cornerstone of management and offers both symptomatic relief and improvement in clinical outcomes. Additionally, a high-energy diet with unrestricted fat and supplementation with fat-soluble vitamins is often required to optimize growth and prevent nutrition deficiencies. Cystic fibrosis (CF) is the most common condition in children that causes EPI, and improvement in nutrition management is associated with improved pulmonary function and increased survival. Currently, the management of other conditions leading to EPI in children is not well studied, and inferences from the CF literature are often necessary in caring for these patients. (Nutr Clin Pract. 2019;34(suppl 1):S27-S42)

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Data that empower: The success and promise of CF patient registries

Abstract: In this article, we describe existing CF registries with a focus on US registry data

Cited by 25 publications

References 67 publications

Cystic fibrosis in Turkey: First data from the national registry

Cystic fibrosis in Turkey: First data from the national registry

Establishing Patient Registries for Rare Diseases: Rationale and Challenges

Management of Exocrine Pancreatic Insufficiency in Children

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