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

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ClinicalTrials.gov Identifier: NCT03163771
Recruitment Status : Recruiting
First Posted : May 23, 2017
Last Update Posted : February 18, 2019
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
University Hospital, Lille

Brief 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 metabolites from peroxisomal origin in clinically suspect patients.

Condition or disease
Peroxisomal Disorders Diagnoses Disease

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
Actual Study Start Date : December 17, 2018
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2023





Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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


Biospecimen Retention:   Samples With DNA
blood


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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).
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03163771


Contacts
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Contact: Joseph VAMECQ, MD +33 320 44 56 94 joseph.vamecq@chru-lille.fr

Locations
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France
Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens Not yet recruiting
Amiens, France, 80054
Principal Investigator: Gilles MORIN         
Pédiatrie, CHU Clémenceau de Caen Not yet recruiting
Caen, France, 40433
Principal Investigator: Alina ARION         
Hôpital Jeanne de Flandres, CHRU Recruiting
Lille, France
Principal Investigator: Dries Dobbelaere, MD         
Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen Not yet recruiting
Rouen, France, 76031
Principal Investigator: Stéphane MARRET, MD         
Sponsors and Collaborators
University Hospital, Lille
Ministry of Health, France
Investigators
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Principal Investigator: Joseph VAMECQ, MD University Hospital, Lille

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Responsible Party: University Hospital, Lille
ClinicalTrials.gov Identifier: NCT03163771     History of Changes
Other Study ID Numbers: 2015_12
2016-A01147-44 ( Other Identifier: ID-RCB number, ANSM )
PHRCI_2014 ( Other Identifier: PHRC number, DGOS )
First Posted: May 23, 2017    Key Record Dates
Last Update Posted: February 18, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Peroxisomal Disorders
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases