Status:
UNKNOWN
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Lead Sponsor:
University Hospital, Clermont-Ferrand
Conditions:
Neuroaxonal Dystrophy, Atypical
Eligibility:
All Genders
Up to 18 years
Brief 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,...
Detailed Description
Patients with biallelic mutations in PLA2G6 with an atypic INAD starting before 18 years will be recruited after a collaboration call of neuropaediatricians in France. After family consent, a retrospe...
Eligibility Criteria
Inclusion
- Children with atypical neuroaxonal dystrophy under 18 years at disease-onset
- with 2 deleterious mutations in the PLA2G6 gene
- alive or deceased
- Non-opposition of parents to participate to the retrospective study
Exclusion
- Classical form of infantile neuroaxonal dystrophy
- Neuro-axonal dystrophy with adult-onset
- Opposition of parents to participate to the retrospective study
Key Trial Info
Start Date :
June 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2022
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT05440994
Start Date
June 1 2022
End Date
December 1 2022
Last Update
July 1 2022
Active Locations (7)
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1
CHU clermont-ferrand
Clermont-Ferrand, France, 63000
2
CHU Grenoble
Grenoble, France
3
HCL, Hôpital Femme, mère, enfant
Lyon, France
4
CHU Montpellier
Montpellier, France