MedTrace Logo

Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations

NCT05440994 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2022-07-01

No results posted yet for this study

Summary

Mutations in the PLA2G6 gene are well known in the classical phenotype called infantile neuro-axonal dystrophy (INAD), a severe neurodegenerative disease starting in infancy with homogeneous clinical, radiological, electrophysiological and pathophysiological features, with early death. Other clinical forms in pediatric patients called atypic INAD have been described in some patients. Expansion of high-throughput sequencing in the last decades has lead to identify mutations in the PLA2G6 gene in pediatric patients with late-onset phenotypes associating progressive ataxia, spastic paraplegia, cognitive regression and/or dystonia / parkinsonism. A high variability in radiological and electrophysiological findings is also described. Less than twenty patients with a pediatric onset have been reported with an atypical INAD. Very poor data are available on management and therapeutic options in these patients and global prognostic is not known. This multicentric retrospective study will record clinical, radiological, electrophysiological and pathophysiological data in pediatric patients with genetically confirmed atypical INAD. Management, therapeutics and evolution of the disease will also be recorded.

Conditions

  • Neuroaxonal Dystrophy, Atypical

Sponsors & Collaborators

  • University Hospital, Clermont-Ferrand

    lead OTHER

Principal Investigators

  • Catherine Sarret · University Hospital, Clermont-Ferrand

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-06-01
Primary Completion
2022-11-01
Completion
2022-12-01

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05440994 on ClinicalTrials.gov