0000000000121879
AUTHOR
Gerald F. Cox
Source document verification in the Mucopolysaccharidosis Type I Registry
Purpose The Mucopolysaccharidosis Type I (MPS I) Registry is an international observational database that tracks the natural history and the outcomes of patients with MPS I. The Registry was a regulatory requirement following the approval of laronidase enzyme replacement therapy for MPS I in 2003. All data are collected voluntarily after informed consent from the patient or family. Data are checked through queries, monthly reviews, and electronic audits to identify missing, inconsistent, or invalid data. This analysis sought to determine overall data accuracy in the Registry through source document verification (SDV). Methods Two phases of SDV were performed. In each phase, Registry data we…
Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases
1Niemann-Pick Disease Group (UK), Tyne and Wear, UK; 2Villa Metabolica, ZKJM, Medical Center, University of Mainz, Mainz, Germany; 3University of Leuven, Leuven, Belgium; 4Hospital Dr. Exequiel Gonzalez Cortes, Santiago, Chile; 5King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; 6Academic Medical Center Hospital of Udine, Udine, Italy; 7Medical Genetics Service, HCPA/UFRGS, Porto Alegre, Brazil; 8University of California San Francisco, San Francisco, CA, USA; 9University of Paris-Diderot, Reference Center for Inborn Errors of Metabolism, Robert-Debre Hospital, Paris, France; 10Akita University School of Medicine, Akita, Japan; 11La Rabta Hospital, Tunis, Tunisia; 12San…
Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing
To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease.The study was approved by the institutional review board or ethics committee at each study site and was compliant with HIPAA at the U.S. site. Written informed consent was obtained from each patient or guardian and minor assent was obtained from all children before any study-related procedures. Pulmonary involvement in 53 patients (27 male and 26 female patients; age range, 7-65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulmonary function tests. All patients underwent chest radiography and thin-section C…
Redefining the MED13L syndrome
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…