Peroxisomal DisordersPEROXY4GNCT03163771
Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
An observational study of Peroxisomal Disorders and Diagnoses Disease, run by University Hospital, Lille at 4 sites in France.
Trial summary
The principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed. It rests on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Peroxisomal Disorders, Diagnoses Disease
- How many people
- 8 participants
- Where
- 4 sitesFrance
- Study dates
- 18 Dec 2018to 15 Aug 2022
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The studied population is represented by only one group of patients checking the inclusion criteria and recruited in the 4 University Hospital centers (Amiens, Caen, Lille and Rouen). For each patient, diagnostic exploration will start in patients with the common inclusion criteria and will include the study of all biochemical parameters susceptible to be disturbed In peroxisomal pathologies (Biology component). Based on the data obtained, the inclusion of patients will lead to biological confirmation tests (Cell Exploration and Enzymology) and molecular studies (Molecular Biology).
Who may be able to join
- I - CLINICAL/BIOLOGICAL CRITERIA For an efficient screening of the patients of the 4 contributing University Hospitals (Amiens, Caen, Lille and Rouen), various inclusion criteria were selected: In general, the inclusion criterion is the existence of a positive biology or in turn the persistence of a clinical suspicion in spite of a negative biology.
- I A - Children from 0 to 17 years:
- The clinical inclusion criterion is a positive biology or the persistence of a clinical suspicion in spite of a negative biology. This persistent clinical suspicion is left to the discretion of the clinician. It is essentially based on the existence of a family history of peroxisomal (or suspected) pathology and / or the combination of several clinical signs of craniofacial dysmorphism, skeletal abnormalities, encephalopathy (seizures, ataxia, Hypotonia), demyelinating peripheral neuropathy, ophthalmopathy (retinopathy, cataract), hepatic impairment (hyperbilirubinemia, hepatomegaly, cholestasis) and growth retardation OR I B - Adults from 18 years
- The neurological symptoms of peroxisomal diseases in adulthood are numerous and non-specific. The three inclusion criteria selected for patient selection are as follows:
- Cognitive impairment (delayed acquisition or regression) and / or leukodystrophy AND At least one of the following signs: Cerebellar ataxia, Spastic paraparesis, Peripheral neuropathy, Neurosensory deafness, Retinitis pigmentosa, Epilepsy, Unexplained unexplained vigilance, Peripheral corticotropic insufficiency +/- gonadotropic AND
- no evidence for an extraperoxisomal origin of the patient disease stated after the usual paraclinic explorations
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- II - NON CLINICAL CRITERIA
- Social insurances
- Having understood the information note and having signed the informed consent form.
- Patients under guardianship or curatorship may be included, since peroxisomal diseases as a cause of neurological impairment may potentially lead to guardianship.
Who cannot join
- Pregnant or nursing women
- Person deprived of liberty or in emergency situations
Trial locations and contacts
4 sites in 1 country.
France4 sites
Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens
Amiens, 80054
Pédiatrie, CHU Clémenceau de Caen
Caen, 40433
Hôpital Jeanne de Flandres, CHRU
Lille
Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen
Rouen, 76031
About this study
The principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed. It rests on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically suspect patients.
- Conditions
- Peroxisomal Disorders, Diagnoses Disease
- Medical subject headings
- Peroxisomal Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of cases diagnosed by the new procedure versus the number of patients included.
Evaluation of a diagnostic strategy based on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically or biologically suspect patients
The study is concomitant with an implementation in the routine Hospitals of the inter-region (West and North of France) of an immediate wide exploration (and not sequential and optional) of diagnostic markers of a pathology peroxisomal. This wide exploration should by itself lead to a diagnosis enrichment and should increase the number of inclusions. But the study, for patients thus included, is also considering an enlarged scanning of functional and genetic explorations that follow inclusion (instead of targeted screening guided primarily by the biological anomaly in the usual practice).
Measured: 14 months
Secondary outcomes (1)
Number of new cases diagnosed by the new procedure in relation to the number of habitants per year.
Evaluation of a diagnostic strategy based on functional metabolic explorations
Measured: 14 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2017
- Study start18 Dec 2018
- Primary completion15 Aug 2022
- Study completion15 Aug 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Peroxisomal DisordersStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, France
- Responsible party
- Sponsor
- Investigators
- Joseph VAMECQ, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03163771
- Sponsor's protocol ID
- 2015_12
- Other IDs
- 2016-A01147-44, PHRCI_2014
- Acronym
- PEROXY4G
- Status last verified
- Dec 2025
- First submitted
- 22 May 2017
- Last updated
- 5 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
- ClinicalTrials.gov ID
- NCT03163771
- Acronym / sponsor ID
- PEROXY4G / 2015_12
- Conditions
- Peroxisomal Disorders, Diagnoses Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Collaborators
- Ministry of Health, France
- Study start
- 18 Dec 2018 (actual)
- Primary completion
- 15 Aug 2022 (actual)
- Study completion
- 15 Aug 2022 (actual)
- First posted
- 23 May 2017 (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 principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed. It rests on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically suspect patients.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The studied population is represented by only one group of patients checking the inclusion criteria and recruited in the 4 University Hospital centers (Amiens, Caen, Lille and Rouen). For each patient, diagnostic exploration will start in patients with the common inclusion criteria and will include the study of all biochemical parameters susceptible to be disturbed In peroxisomal pathologies (Biology component). Based on the data obtained, the inclusion of patients will lead to biological confirmation tests (Cell Exploration and Enzymology) and molecular studies (Molecular Biology).
Key inclusion criteria (10 listed)
- I - CLINICAL/BIOLOGICAL CRITERIA For an efficient screening of the patients of the 4 contributing University Hospitals (Amiens, Caen, Lille and Rouen), various inclusion criteria were selected: In general, the inclusion criterion is the existence of a positive biology or in turn the persistence of a clinical suspicion in spite of a negative biology.
- The clinical inclusion criterion is a positive biology or the persistence of a clinical suspicion in spite of a negative biology. This persistent clinical suspicion is left to the discretion of the clinician. It is essentially based on the existence of a family history of peroxisomal (or suspected) pathology and / or the combination of several clinical signs of craniofacial dysmorphism, skeletal abnormalities, encephalopathy (seizures, ataxia, Hypotonia), demyelinating peripheral neuropathy, ophthalmopathy (retinopathy, cataract), hepatic impairment (hyperbilirubinemia, hepatomegaly, cholestasis) and growth retardation OR I B - Adults from 18 years
- The neurological symptoms of peroxisomal diseases in adulthood are numerous and non-specific. The three inclusion criteria selected for patient selection are as follows:
- Cognitive impairment (delayed acquisition or regression) and / or leukodystrophy AND At least one of the following signs: Cerebellar ataxia, Spastic paraparesis, Peripheral neuropathy, Neurosensory deafness, Retinitis pigmentosa, Epilepsy, Unexplained unexplained vigilance, Peripheral corticotropic insufficiency +/- gonadotropic AND
- no evidence for an extraperoxisomal origin of the patient disease stated after the usual paraclinic explorations
Key exclusion criteria (2 listed)
- Pregnant or nursing women
- Person deprived of liberty or in emergency situations
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
Percentage of cases diagnosed by the new procedure versus the number of patients included.
Time frame: 14 months
Evaluation of a diagnostic strategy based on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically or biologically suspect patients The study is concomitant with an implementation in the routine Hospitals of the inter-region (West and North of France) of an immediate wide exploration (and not sequential and optional) of diagnostic markers of a pathology peroxisomal. This wide exploration should by itself lead to a diagnosis enrichment and should increase the number of inclusions. But the study, for patients thus included, is also considering an enlarged scanning of functional and genetic explorations that follow inclusion (instead of targeted screening guided primarily by the biological anomaly in the usual practice).
1 secondary outcome
Number of new cases diagnosed by the new procedure in relation to the number of habitants per year.
Time frame: 14 months
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 5 Dec 2025.
- Individual participant dataSharing planned: No
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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.
Joseph VAMECQ, MD principal investigator
University Hospital, Lille
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Peroxisomal Disorders and Diagnoses Disease, run by University Hospital, Lille at 4 sites in France.
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 10 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 5 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in France. 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?
Percentage of cases diagnosed by the new procedure versus the number of patients included. (time frame: 14 months). 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 5 Dec 2025.