Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases

NCT03163771 | Completed

• 3 other identifiers: 2015_122016-A01147-44PHRCI_2014
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 4

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.

Conditions

Peroxisomal Disorders; Diagnoses Disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

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

  14 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• I A - Children from 0 to 17 years:
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Lille: lead
• Ministry of Health, France: collaborator

Study Sites (4)

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

Amiens, 80054, France

Location

Pédiatrie, CHU Clémenceau de Caen

Caen, 40433, France

Location

Hôpital Jeanne de Flandres, CHRU

Lille, France

Location

Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen

Rouen, 76031, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Peroxisomal Disorders

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Joseph VAMECQ, MD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2017
• First Posted: May 23, 2017
• Study Start: December 18, 2018
• Primary Completion: August 15, 2022
• Study Completion: August 15, 2022
• Last Updated: December 5, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (4)