Inborn Errors of MetabolismNCT05818566
Orphan Drugs for Inherited Metabolic Diseases
An observational study of Inborn Errors of Metabolism, run by University of Lausanne at 1 site in Switzerland.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Inborn Errors of Metabolism
- How many people
- 39 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Oct 2022to 1 Oct 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Outpatient clinic for Adult patients with IMD from the Lausanne University Hospital (Division of Genetic Medicine)
Who may be able to join
- Age = or > 16 years
- Biological and/or genetically confirmed diagnosis of IMD
Who cannot join
- Age < 16 years
- Document attesting refusal to participate
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
Lausanne University Hospital
Lausanne, Canton of Vaud, 1011
About this study
Official title: 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.
Read the 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.
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Orphan Drugs, Inherited Metabolic Diseases
- Medical subject headings
- Metabolism, Inborn Errors
What is being measured
The primary outcome is the main question the study is designed to answer.
Specific diagnosis of Inherited Metabolic Diseases listed by their frequency
Clinical outcome
Measured: Day1
Age at diagnosis (years/months)
Clinical outcome
Measured: Day1
Current age (years/months)
Clinical outcome
Measured: Day1
Specific treatment for inherited metabolic diseases
Treatment specific to each diseases including only OMPs
Measured: 5 years
Secondary outcomes (1)
Gender (Male/Female)
Demography outcome
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2023
- Study start1 Oct 2022
- Primary completion1 May 2024
- Study completion1 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 39 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Lausanne
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christel Tran, University of Lausanne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05818566
- Sponsor's protocol ID
- 2022-01470
- Status last verified
- Nov 2023
- First submitted
- 4 Apr 2023
- Last updated
- 4 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Gariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. Orphanet J Rare Dis. 2020 Aug 18;15(1):210. doi: 10.1186/s13023-020-01471-z.
PubMed 32811506Antoni G, Kumps C, Berger J, Barman-Aksozen J, Tran C. Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. Orphanet J Rare Dis. 2026 May 18;21(1):202. doi: 10.1186/s13023-026-04367-6.
PubMed 42152020
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Challenge of Treating Orphan Diseases With Novel Therapies: Experience From One Adult Metabolic Clinic in Switzerland
- ClinicalTrials.gov ID
- NCT05818566
- Acronym / sponsor ID
- 2022-01470
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Orphan Drugs, Inherited Metabolic Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 39 participants (actual)
- Lead sponsor
- University of LausanneUniversity, hospital or other
- Study start
- 1 Oct 2022 (actual)
- Primary completion
- 1 May 2024 (actual)
- Study completion
- 1 Oct 2024 (actual)
- First posted
- 19 Apr 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Outpatient clinic for Adult patients with IMD from the Lausanne University Hospital (Division of Genetic Medicine)
Key inclusion criteria (2 listed)
- Age = or > 16 years
- Biological and/or genetically confirmed diagnosis of IMD
Key exclusion criteria (2 listed)
- Age < 16 years
- Document attesting refusal to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Specific diagnosis of Inherited Metabolic Diseases listed by their frequency
Time frame: Day1
Clinical outcome
Age at diagnosis (years/months)
Time frame: Day1
Clinical outcome
Current age (years/months)
Time frame: Day1
Clinical outcome
Specific treatment for inherited metabolic diseases
Time frame: 5 years
Treatment specific to each diseases including only OMPs
1 secondary outcome
Gender (Male/Female)
Time frame: Day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Dec 2024.
- Results publication: PubMed 32811506Gariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. Orphanet J Rare Dis. 2020 Aug 18;15(1):210. doi: 10.1186/s13023-020-01471-z.
- Derived from this study: PubMed 42152020Antoni G, Kumps C, Berger J, Barman-Aksozen J, Tran C. Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. Orphanet J Rare Dis. 2026 May 18;21(1):202. doi: 10.1186/s13023-026-04367-6.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism, run by University of Lausanne at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Specific diagnosis of Inherited Metabolic Diseases listed by their frequency (time frame: Day1). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05818566, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Dec 2024.