An observational study in Inborn Errors of Metabolism, sponsored by University of Lausanne. Completed at 1 site in Switzerland. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2024-12-04.
Sponsored by University of Lausanne · Observational
The aim of this study is to report and describe all the patients with confirmed diagnosis of inherited metabolic disease (IMD) treated with orphan medicinal products (OMPs) in a cohort of adult patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2022.
The development of novel therapies for inherited metabolic diseases, considered has OMPs, has improved the care of these patients. OMPs include a wide range of therapies from dietary products, enzyme replacement, substrate inhibitors, coenzyme replacement to more recently, gene therapy. Despite an increasing use of these therapies, they are still considered highly specialized treatments for very small groups of patients and share the characteristic of aiming to treat small populations with targeted therapies, which leads to higher costs and difficulties in obtaining clinical evidence. Drugs are approved for marketing and orphan designation by medical agencies based on their efficacy and safety.
In Switzerland, a separate country-specific process decides whether an approved drug is reimbursed. Because of the growing number of expensive OMPs, their reimbursement through public health insurances is increasingly manifesting itself as a moral dilemma for decision-makers. It may take a median of several years after submission of the first application by a pharmaceutical company for an orphan drug to become available to patients.
Considering the increasing number of OMP approvals and the still ethical challenge concerning their reimbursement, this study aims to share the experience of a single center in treating adult IMDs with OMPs but also in implementing novel therapies for rare diseases not yet covered by health insurers in Switzerland.
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 treated with OMPs. Electronic and paper patient charts from the Division of Genetic Medicine will be reviewed for type of IMD and treatment. All variables will be entered in an excel database.
152 studies on the registry are indexed under Metabolism, Inborn Errors; 22 are open to participants now.
This study's enrollment of 39 is below the median of 65 across 45 observational studies indexed under Metabolism, Inborn Errors.
Browse Metabolism, Inborn Errors studies →University of Lausanne is the lead sponsor of 55 studies on the registry; 6 are open to participants now.
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Outpatient clinic for Adult patients with IMD from the Lausanne University Hospital (Division of Genetic Medicine)
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Exclusion Criteria:
Specific diagnosis of Inherited Metabolic Diseases listed by their frequency
Clinical outcome
Time frame: Day1
Age at diagnosis (years/months)
Clinical outcome
Time frame: Day1
Current age (years/months)
Clinical outcome
Time frame: Day1
Specific treatment for inherited metabolic diseases
Treatment specific to each diseases including only OMPs
Time frame: 5 years
Gender (Male/Female)
Demography outcome
Time frame: Day 1
This study is completed, as verified in Nov 2023. You cannot join it, but the record below documents what was studied.
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University of Lausanne