Evidence map›Paper›PMID 34922584›Full record

ArticleOrphanet journal of rare diseases2021

National Rare Diseases Registry System (NRDRS): China's first nation-wide rare diseases demographic analyses.

Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Jian Guo *The Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Peng Liu *The Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Limeng ChenThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Haohan LvThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Jie LiThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Weichao YuThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Kaifeng XuThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Yicheng ZhuThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Zhihong WuThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Zhuang TianThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Ye JinThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China.
Rachel YangThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China. rachel.yang@nrdrs.org.
Weihong GuThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China. guweihong@nrdrs.org.
Shuyang ZhangThe Administrative Group of National Rare Diseases Registry System of China, Beijing, 100730, China. zhangsy@nrdrs.org.ORCID 0000-0003-3160-0845
Administrative Group of National Rare Diseases Registry System of China

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChina has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years. The Chinese government's systematic approach included a series of coordinated initiatives, amongst these are: forming the Rare Disease Expert Committee (2016), funding the "Rare Diseases Cohort Study" (2016-2020), and publishing its first "Rare Disease Catalog" (2018). Herein, we present the National Rare Diseases Registry System (NRDRS)-China's first national rare diseases registry, and the analysis of cases registered in the first 5 years ending Dec 31, 2020.

resultsThe total 62,590 cases covered 166 disease/disease types, forming 183 disease cohorts. The data from nearly 22% of them (13,947 cases) is also linked to valuable biological samples. The average age of definitive diagnosis was 30.88 years; 36.07% of cases were under 18 years of age. Regional distribution analysis showed 60% of cases were from the more developed, wealthier East and North China, suggesting the local availability of quality care and patients' financial status were key access factors. Finally, 82.04% of cases were registered from the five clinical departments: Neurology, Endocrine, Hematology, Cardiovascular, and Nephrology, suggesting that either these are most affected by rare diseases, or that there were disease non-specific ascertainment factors.

conclusionsThe preliminary analysis of the first 5-year's data provides unique and valuable insight on rare disease distribution in China, and higlights the directions for enhancing equity, scale and utility.

Indexed as

Rare DiseasesAdolescentAdultChinaCohort StudiesDemographyHumansRegistriesChinaDatabaseRare diseasesRegistry

Identifiers

PMID34922584
PMCPMC8684272

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