Developing a rare disease registry for inherited metabolic disorders in Pakistan
- 1Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University
Abstract
Background Inherited metabolic disorders (IMDs) underrecognized and underreported in Pakistan because of fragmented data systems, limited surveillance, and constrained diagnostic resources. We aimed to establish a continuous registry for IMDs to generate structured epidemiological, clinical, and biochemical data in a genetically heterogeneous population with high rates of consanguinity. Methods A single-center rare disease registry for IMDs was developed at the Biochemical Genetics Laboratory, Aga Khan University Hospital, Pakistan, and implemented between 2024 and March 2026 using retrospective consolidation of cases from January 2013 onward, followed by prospective real-time data capture. Demographic, clinical, and biochemical data were collected through structured case report forms and linked laboratory records. Registry performance was monitored using predefined indicators, including case volume, number of diagnostic categories, and data quality assessed through three audit cycles, 12 staff training rounds, and source verification procedures. Results The registry included 3,880 unique cases from January 2013 to March 2026 and documented 59 distinct IMDs across all four provinces of Pakistan. Parental consanguinity was reported in 66.5% of cases (n = 2,584). The most frequently identified disorders were methylmalonic aciduria (n = 555), biotinidase deficiency (n = 287), and urea cycle disorders (n = 218). The final data dictionary comprised 14 categories and 384 common data elements. Quality control measures, including 12 training rounds and periodic audits, improved data accuracy and completeness from 60% to 96% to enable successful registry integration. Piloting data collection tools achieved > 90% completeness in demographic and clinical fields. Conclusion This first registry for IMDs in Pakistan provides a structured, quality-assured epidemiological resource for defining the burden and spectrum of these disorders. The registry establishes a foundation for improved diagnosis, service planning, policy development, and future multicenter rare disease research. Clinical trial number Not applicable.
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BibTeX
@article{jafri2026developing,
title = {{Developing a rare disease registry for inherited metabolic disorders in Pakistan}},
author = {Lena Jafri and Hafsa Majid and Sibtain Ahmed and Azeema Jamil and Saba Abdul Mateen and Akhtar Shah and Aysha Habib Khan},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = jul,
doi = {10.1186/s13023-026-04510-3},
url = {https://doi.org/10.1186/s13023-026-04510-3},
note = {CC BY},
}
RIS
TY - JOUR
TI - Developing a rare disease registry for inherited metabolic disorders in Pakistan
AU - Lena Jafri
AU - Hafsa Majid
AU - Sibtain Ahmed
AU - Azeema Jamil
AU - Saba Abdul Mateen
AU - Akhtar Shah
AU - Aysha Habib Khan
PY - 2026
DA - 2026/07/01
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04510-3
UR - https://doi.org/10.1186/s13023-026-04510-3
AB - Background Inherited metabolic disorders (IMDs) underrecognized and underreported in Pakistan because of fragmented data systems, limited surveillance, and constrained diagnostic resources. We aimed to establish a continuous registry for IMDs to generate structured epidemiological, clinical, and biochemical data in a genetically heterogeneous population with high rates of consanguinity. Methods A single-center rare disease registry for IMDs was developed at the Biochemical Genetics Laboratory, Aga Khan University Hospital, Pakistan, and implemented between 2024 and March 2026 using retrospective consolidation of cases from January 2013 onward, followed by prospective real-time data capture. Demographic, clinical, and biochemical data were collected through structured case report forms and linked laboratory records. Registry performance was monitored using predefined indicators, including case volume, number of diagnostic categories, and data quality assessed through three audit cycles, 12 staff training rounds, and source verification procedures. Results The registry included 3,880 unique cases from January 2013 to March 2026 and documented 59 distinct IMDs across all four provinces of Pakistan. Parental consanguinity was reported in 66.5% of cases (n = 2,584). The most frequently identified disorders were methylmalonic aciduria (n = 555), biotinidase deficiency (n = 287), and urea cycle disorders (n = 218). The final data dictionary comprised 14 categories and 384 common data elements. Quality control measures, including 12 training rounds and periodic audits, improved data accuracy and completeness from 60% to 96% to enable successful registry integration. Piloting data collection tools achieved > 90% completeness in demographic and clinical fields. Conclusion This first registry for IMDs in Pakistan provides a structured, quality-assured epidemiological resource for defining the burden and spectrum of these disorders. The registry establishes a foundation for improved diagnosis, service planning, policy development, and future multicenter rare disease research. Clinical trial number Not applicable.
SN - 1750-1172
ER -