Orphan Drugs for Inherited Metabolic Diseases

December 3, 2024 updated by: Christel Tran, University of Lausanne

The Challenge of Treating Orphan Diseases With Novel Therapies: Experience From One Adult Metabolic Clinic in Switzerland

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.

Study Overview

Status

Completed

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

39

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Switzerland
    • Vaud
      • Lausanne, Vaud, Switzerland, 1011
        • Lausanne University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Outpatient clinic for Adult patients with IMD from the Lausanne University Hospital (Division of Genetic Medicine)

Description

Inclusion Criteria:

  • Age = or > 16 years
  • Biological and/or genetically confirmed diagnosis of IMD

Exclusion Criteria:

  • Age < 16 years
  • Document attesting refusal to participate

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Specific diagnosis of Inherited Metabolic Diseases listed by their frequency
Time Frame: Day1
Clinical outcome
Day1
Age at diagnosis (years/months)
Time Frame: Day1
Clinical outcome
Day1
Current age (years/months)
Time Frame: Day1
Clinical outcome
Day1
Specific treatment for inherited metabolic diseases
Time Frame: 5 years
Treatment specific to each diseases including only OMPs
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Gender (Male/Female)
Time Frame: Day 1
Demography outcome
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Lausanne

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2022

Primary Completion (Actual)

May 1, 2024

Study Completion (Actual)

October 1, 2024

Study Registration Dates

First Submitted

April 4, 2023

First Submitted That Met QC Criteria

April 4, 2023

First Posted (Actual)

April 19, 2023

Study Record Updates

Last Update Posted (Estimated)

December 4, 2024

Last Update Submitted That Met QC Criteria

December 3, 2024

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2022-01470

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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