Clinical Trials Logo

Clinical Trial Summary

The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.


Clinical Trial Description

Inherited metabolic diseases (IMD) are genetic disorders resulting from an enzyme defect and/or transport proteins in metabolic pathways affecting proteins, fat, carbohydrate metabolism or impaired organelle function. As IMDs can affect the primary sources of energy (glycogen, fatty acids), they can lead to cardiac dysfunction. Although most of IMDs are multisystemic diseases, in some cases, the cardiac dysfunction they cause is the main clinical feature and source of major complications which will determine the prognosis, like heart failure, ventricular arrythmias or even sudden death. Information regarding cardiac manifestations in adult IMDs is currently scarce and little is known about their clinical and radiological characteristics. A database was created in 2017 including all patients with IMD followed at the Adult Metabolic Clinic in the CHUV. This database was part of a protocol submitted and approved by the Ethics committee (# 2017-02328). The results of this first analysis were published in the Journal of Orphan Rare Diseases. Investigators will use this database to identify all the patients who had cardiac examination. Only patients from the Lausanne University Hospital followed jointly with the Division of Cardiology will be included in the analysis. Electronic and paper patient charts from the Division of Genetic Medicine and Division of Cardiology (Lausanne University Hospital) will be reviewed for type of IMD and cardiac investigations (cardiac ultrasound, multiple resonance Imaging, electrocardiogram). All variables will be entered in an excel database. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT04999566
Study type Observational
Source University of Lausanne
Contact Christel Tran, MD
Phone +41213143680
Email christel.tran@chuv.ch
Status Recruiting
Phase
Start date May 1, 2021
Completion date September 2, 2024

See also
  Status Clinical Trial Phase
Completed NCT00010361 - Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders N/A
Terminated NCT01963650 - Natural History Study of Children With Metachromatic Leukodystrophy
Withdrawn NCT03810690 - Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Phase 1/Phase 2
Completed NCT00477594 - Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia Phase 2
Completed NCT02826694 - North Carolina Newborn Exome Sequencing for Universal Screening N/A
Completed NCT00607373 - Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Phase 3
Completed NCT00362180 - Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Phase 2
Active, not recruiting NCT02635269 - Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy N/A
Completed NCT00006061 - Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency N/A
Recruiting NCT04645498 - COVID-19 and Hereditary Metabolic Diseases
Completed NCT00099996 - Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Phase 3
Completed NCT00006057 - Diagnostic and Screening Study of Genetic Disorders N/A
Withdrawn NCT02298712 - Biomarker for Hurler Disease (BioHurler)
Completed NCT00694109 - An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Phase 3
Completed NCT05123768 - Genetic Etiology in Patients With Cerebral Palsy