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

University Hospital, Lille

Status: Completed

Conditions: Peroxisomal Disorders; Diagnoses Disease

Study type: Observational

Funder types: Other

Identifiers

NCT03163771

2016-A01147-44 (Other Identifier)

PHRCI_2014 (Other Identifier)

2015_12

Details and patient eligibility

About

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.

Enrollment: 8 patients

Sex: All

Volunteers: No Healthy Volunteers

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