Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2017

Open Access 01-12-2017 | Research

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

Authors: M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie, S.F. Ahmed

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

Login to get access

Abstract

Background

With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses.

Methods

The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research.

Results

The design of the I-DSD and I-CAH Registries provides them with the ability to perform multiple studies and meet the standards for data elements, data sources and eligibility criteria. The registries follow the standards for data security, governance, ethical and legal issues, sustainability and communication of activities. The data have a high degree of validity, consistency and accuracy and the completeness is maximal for specific conditions such as androgen insensitivity syndrome and congenital adrenal hyperplasia. In terms of research output, the external validity is strong but the wide variety of cases needs further review. The internal validity of data was condition specific and highest for conditions such as congenital adrenal hyperplasia. The shift of the registry from a European registry to an international registry and the creation of a discrete but linked CAH registry increased the number of users and stakeholders as well as the international acceptability of both registries.

Conclusions

The I-DSD and I-CAH registries comply with the standards set by expert organisations. Recent modifications in their operation have allowed the registries to increase their user acceptability.
Literature
1.
Ahmed SF, Rodie M, Jiang J, Sinnott RO. The European disorder of sex development registry: a virtual research environment. Sex Dev. 2010;4:192–8.CrossRefPubMed
2.
Ahmed SF, Bryce J, Hiort O. International networks for supporting research and clinical care in the field of disorders of sex development. Endocr Dev. 2014;27:284–92.PubMed
3.
Gliklich RE, Dreyer NA (eds): Registries for evaluating patient outcomes: A user’s guide, ed 2. (Prepared by Outcome DEcIDE Center [Outcome Sciences, Inc. d/b/a Outcome under Contract No. HHSA29020050035I TO3]. AHRQ Publication No. 10-EHC049. Rockville, Agency for Healthcare Research and Quality, 2010.
4.
Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F. The quality of rare disease registries: evaluation and characterization. Public Health Genomics. 2016;19:108–15.CrossRefPubMed
5.
6.
Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt-Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF. The long term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene. J Clin Endocrinol Metab. 2016.
7.
Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES consensus group; ESPE consensus group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554–63.CrossRefPubMedPubMedCentral
8.
9.
10.
Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2004;151 Suppl 3:U71–5.CrossRefPubMed
11.
Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001;86:4151–60.CrossRefPubMed
12.
Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina) phenotypic manifestations and genetic approaches. J Negat Results Biomed. 2006;5:1.CrossRefPubMedPubMedCentral
13.
Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SLS, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus P-M. Identification of an AR-mutation negative class of androgen insensitivity by determining endogenous AR-activity. J Clin Endocrinol Metab. 2016.
14.
Kourime M, Bryce J, Jiang J, Karunasena N, Koehler B, Guran T, Hannema S.E, Cools M, Van Der Grinten HLC, Acerini C, Mendonca B, Krone N, Darendeliler F, Ellaithi M, Bertelloni S, Balsamo A, Lisa L, Bonfig W, Nordenstrom A, Elsedfy H, Hiort O, Dagmar L, Marginean O, Ross R, Ahmed SF. A new international registry highlights the differences in practice for reaching a diagnosis of CAH. ESPE Abstract (2016) 86 P-P1-356.http://​abstracts.​eurospe.​org/​hrp/​0086/​hrp0086P1-P356.​htm. Accessed 22 Oct 2016.
15.
Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus PM, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N. Changes over time in sex assignment for disorders of sex development. Pediatrics. 2014;134:710–5.CrossRef
16.
Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF. Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab. 2014;99:348–55.CrossRef
17.
18.
Kyriakou A, Dessens J,Bryce J, Haraldsen I, Iotova V, Juul A, Krawczynski M,Nordenskjöld A, RozasM, Sanders C, Hiort O, Ahmed SF. Current models of practice & professional development of clinicians in DSD centres. Orphanet J Rare Dis Under revision
19.
20.
21.
22.
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao L-M, Lin-Su K, Looijenga 3rd LHJ, Mazur T, Meyer-Bahlburg HFL, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S, the Global DSD Update Consortium. Global disorders of Sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85:158–80.CrossRefPubMed
23.
Cools M, Simmonds M, Elford S, Gorter J, Ahmed SF, D’Alberton F, Springer A, Hiort O, Management Committee of the European Cooperation in Science and Technology Action BM1303. Response to the council of Europe human rights commissioner’s issue paper on human rights and intersex people. Eur Urol. 2016;70:407–9.CrossRefPubMed
24.
25.
26.
Taruscio D, Gainotti S, Vittozzi L, Bianchi F, Ensini M, Posada M. EPIRARE survey on activities and needs of rare disease registries in the European Union. Orphanet J Rare Dis. 2012;7 Suppl 2:A22.CrossRefPubMedCentral
27.
28.
Strobl J, Enzer I, Bagust A, Haycox A, Smyth R, Ashby D, Walley T. Using disease registries for pharmacoepidemiological research: a case study of data from a cystic fibrosis registry. Pharmacoepidemiol Drug Saf. 2003;12:467–73.CrossRefPubMed
29.
Larsen IK, Småstuen M, Johannesen TB, Langmark F, Parkin DM, Bray F, Møller B. Data quality at the cancer registry of Norway: an overview of comparability, completeness, validity and timeliness. Eur J Cancer. 2009;45:1218–31.CrossRefPubMed
30.
Harvei S, Tretli S, Langmark F. Quality of prostate cancer data in the cancer registry of Norway. Eur J Cancer. 1996;32A:104–10.CrossRefPubMed
31.
Mork J, Thoresen S, Faye-Lund H, Langmark F, Glattre E. Head and neck cancer in Norway. A study of the quality of the cancer registry of Norway’s data on head and neck cancer for the period 1953–1991. APMIS. 1995;103:375–82.CrossRefPubMed
32.
33.
Aymé S, Bellet B, Rath A. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis. 2015;10:35.CrossRefPubMedPubMedCentral
34.
Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, Blomberg N, Boiten JW, Da Silva Santos LB, Bourne PE, Bouwman J, Brookes AJ, Clark T, Crosas M, Dillo I, Dumon O, Edmunds S, Evelo CT, Finkers R, Gonzalez-Beltran A, Gray AJ, Groth P, Goble C, Grethe JS, Heringa J, 't Hoen PA, Hooft R, Kuhn T, Kok R, Kok J, Lusher SJ, Martone ME, Mons A, Packer AL, Persson B, Rocca-Serra P, Roos M, van Schaik R, Sansone SA, Schultes E, Sengstag T, Slater T, Strawn G, Swertz MA, Thompson M, van der Lei J, Van Mulligen E, Velterop J, Waagmeester A, Wittenburg P, Wolstencroft K, Zhao J, Mons B. The FAIR guiding principles for scientific data management and stewardship. Sci Data. 2016;3:160018.CrossRefPubMedPubMedCentral
35.
Metadata
Title
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development
Authors
M. Kourime
J. Bryce
J. Jiang
R. Nixon
M. Rodie
S.F. Ahmed
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-017-0603-7

Other articles of this Issue 1/2017

Orphanet Journal of Rare Diseases 1/2017 Go to the issue

Review

KBG syndrome

Research

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease

Research

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Research

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Research

Determinants of orphan drugs prices in France: a regression analysis

Research

Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs