Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases (PEROXY4G)

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 Overview

• Status: Recruiting
• Conditions: Diagnoses Disease; Peroxisomal Disorders

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

Study Locations

• France
  • Amiens, France, 80054
    • Not yet recruiting
    • Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens
  • Caen, France, 40433
    • Not yet recruiting
    • Pédiatrie, CHU Clémenceau de Caen
  • Lille, France
    • Recruiting
    • Hôpital Jeanne de Flandres, CHRU
  • Rouen, France, 76031
    • Not yet recruiting
    • Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

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).

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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).	14 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	14 months

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Collaborators: Ministry of Health, France

Study record dates

Study Major Dates

• Study Start (ACTUAL): December 17, 2018
• Primary Completion (ANTICIPATED): December 1, 2023
• Study Completion (ANTICIPATED): December 1, 2023

Study Registration Dates

• First Submitted: May 22, 2017
• First Submitted That Met QC Criteria: May 22, 2017
• First Posted (ACTUAL): May 23, 2017

Study Record Updates

• Last Update Posted (ACTUAL): February 8, 2023
• Last Update Submitted That Met QC Criteria: February 6, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Disease; Peroxisomal Disorders
• Other Study ID Numbers: 2015_12; 2016-A01147-44 (OTHER: ID-RCB number, ANSM); PHRCI_2014 (OTHER: PHRC number, DGOS)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No