Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases

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.

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Key information

Conditions

Peroxisomal Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diagnoses Disease Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens, Amiens, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

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.

Exclusion criteria

Pregnant or nursing women
Person deprived of liberty or in emergency situations

Treatment and study plan

Primary outcomes

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).

Secondary outcomes

Number of new cases diagnosed by the new procedure in relation to the number of habitants per year.

Time frame: 14 months

Evaluation of a diagnostic strategy based on functional metabolic explorations

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Collaborators

Ministry of Health, France

Registry information

Acronym: PEROXY4G

Important dates

Study start: 2018
Primary completion: 2022
Study completion: 2022
First posted: May 23, 2017
Registry last updated: Dec 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed