Inborn Errors of MetabolismNCT03534752
Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland
An observational study of Inborn Errors of Metabolism, run by University of Lausanne at 1 site in Switzerland.
Trial summary
This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. . 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
- 220 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Apr 2018to 1 Apr 2020
- 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 Inborn Errors of Metabolism from the Lausanne University Hospital (Division of Genetic Medicine) and Geneva University Hospital (Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG.
Who may be able to join
- All IEM adult patients who were transitioned from the pediatric clinic to the adult metabolic clinic (the Centre for Molecular Disease in Lausanne and the Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG) since its creation in 2013 and those who were referred to our clinic for suspicion of IEM and requiring further investigation.
Who cannot join
- Age < 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
Lausanne University Hospitals
Lausanne, Canton of Vaud, 1011
About this study
Official title: Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. .
Read the detailed description
Background Inborn errors of metabolism (IEMs) are a group of rare disorders caused by genetic mutations that affect enzymes of intermediary metabolism. Because adult with IEMs has become an emerging and challenging group in Switzerland, this study is intended to assess the actual situation of adult patients with IEM in the French-speaking part of Switzerland, namely their age, their sex, their diagnosis, age at disease onset and their clinical outcome including complications of the disease.
All adult patients with a biochemical and/or genetic diagnosis of IEM followed at the adult metabolic clinic from the Lausanne University Hospital and Geneva University Hospital between 01.10.2013 to 31.12.2017 will be included in the study. In addition, investigators will also include the patients referred to the clinic for suspicion of IEM and determinate if the investigation confirmed an IEM disease. Electronic and paper patient charts will be reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, treatment and long-term outcome. All data will be entered in an Excel database.
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Inborn errors of Metabolism, Adulthood, Clinical characteristics
- 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 IEM listed by their frequency
Clinical outcome
Measured: First visit
Age at diagnosis (years/months)
Clinical outcome
Measured: First visit
Medical complications
Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes
Measured: 4 years
Specific treatment for Inborn Errors of Metabolism
Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, carnitine, ubiquinone, vitamins, specific diet, dialysis, specific metabolic formula
Measured: 4 years
Number of hospital admission
Clinical outcome
Measured: 4 years
Survival rate (%)
Clinical Outcome
Measured: 4 years
Gender (Male/female)
Demography outcome
Measured: First visit
Secondary outcomes (8)
Abdominal Ultrasound results
Radiological Imaging description of spleen and/or liver when available (size, echostructure)
Measured: 4 years
Magnetic resonance Imaging scan
Radiological Imaging description of brain, abdomen and bone when available
Measured: 4 years
Bone density test
Radiological Imaging description of bone including T-score when available
Measured: 4 years
Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)
Laboratory including blood concentration of chitotriosidase and Galactose-1-Phosphate
Measured: 4 years
Clinical chemistry
Laboratory including blood concentration of sodium, potassium, liver function tests, creatinine, uric acid, urea, amino acids, acylcarnitine profile, methylmalonate, total homocysteine and urine concentration of organic acids
Measured: 4 years
Hematology tests
Laboratory (blood count, international normalized ratio, prothrombin time)
Measured: 4 years
Enzyme activity in leucocytes and/or fibroblasts
Enzyme activity of deficient enzyme when available for lysosomal storage diseases, mucopolysaccharidoses, cobalamin deficiency, diseases, classical homocystinuria
Measured: 4 years
Molecular analysis results of candidate gene for Inborn Errors of metabolism
Laboratory including mutation results confirming the molecular origin of the disease when available
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2018
- Study start1 Apr 2018
- Primary completion1 Apr 2019
- Study completion1 Apr 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- 220 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
- Investigators
- Christel Tran, MD, Principal investigator, University of Lausanne Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03534752
- Sponsor's protocol ID
- 2017-02328
- Other IDs
- 2017
- Status last verified
- Jul 2021
- First submitted
- 10 Apr 2018
- Last updated
- 20 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
- ClinicalTrials.gov ID
- NCT03534752
- Acronym / sponsor ID
- 2017-02328
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Inborn errors of Metabolism, Adulthood, Clinical characteristics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 220 participants (actual)
- Lead sponsor
- University of LausanneUniversity, hospital or other
- Study start
- 1 Apr 2018 (actual)
- Primary completion
- 1 Apr 2019 (actual)
- Study completion
- 1 Apr 2020 (actual)
- First posted
- 23 May 2018 (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.
This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. .
Detailed description
Background Inborn errors of metabolism (IEMs) are a group of rare disorders caused by genetic mutations that affect enzymes of intermediary metabolism. Because adult with IEMs has become an emerging and challenging group in Switzerland, this study is intended to assess the actual situation of adult patients with IEM in the French-speaking part of Switzerland, namely their age, their sex, their diagnosis, age at disease onset and their clinical outcome including complications of the disease.
All adult patients with a biochemical and/or genetic diagnosis of IEM followed at the adult metabolic clinic from the Lausanne University Hospital and Geneva University Hospital between 01.10.2013 to 31.12.2017 will be included in the study. In addition, investigators will also include the patients referred to the clinic for suspicion of IEM and determinate if the investigation confirmed an IEM disease. Electronic and paper patient charts will be reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, treatment and long-term outcome. All data 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 Inborn Errors of Metabolism from the Lausanne University Hospital (Division of Genetic Medicine) and Geneva University Hospital (Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG.
Key inclusion criteria (1 listed)
- All IEM adult patients who were transitioned from the pediatric clinic to the adult metabolic clinic (the Centre for Molecular Disease in Lausanne and the Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG) since its creation in 2013 and those who were referred to our clinic for suspicion of IEM and requiring further investigation.
Key exclusion criteria (1 listed)
- Age < 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.
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 IEM listed by their frequency
Time frame: First visit
Clinical outcome
Age at diagnosis (years/months)
Time frame: First visit
Clinical outcome
Medical complications
Time frame: 4 years
Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes
Specific treatment for Inborn Errors of Metabolism
Time frame: 4 years
Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, carnitine, ubiquinone, vitamins, specific diet, dialysis, specific metabolic formula
Number of hospital admission
Time frame: 4 years
Clinical outcome
Survival rate (%)
Time frame: 4 years
Clinical Outcome
Gender (Male/female)
Time frame: First visit
Demography outcome
8 secondary outcomes
Abdominal Ultrasound results
Time frame: 4 years
Magnetic resonance Imaging scan
Time frame: 4 years
Bone density test
Time frame: 4 years
Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)
Time frame: 4 years
Clinical chemistry
Time frame: 4 years
Hematology tests
Time frame: 4 years
Enzyme activity in leucocytes and/or fibroblasts
Time frame: 4 years
Molecular analysis results of candidate gene for Inborn Errors of metabolism
Time frame: 4 years
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 20 Jul 2021.
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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.
Christel Tran, MD principal investigator
University of Lausanne Hospitals
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 1 inclusion and 1 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 20 Jul 2021. 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 IEM listed by their frequency (time frame: First visit). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Jul 2021.