Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy
NCT ID: NCT06054347
Last Updated: 2025-08-11
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
30 participants
OBSERVATIONAL
2023-12-29
2025-05-21
Brief Summary
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Detailed Description
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Ten years ago, international recommendations have changed and a lysine restricted diet was added as an adjunct therapy with the hope to improve neurodevelopment.
Very few studies have evaluated the cognitive development of these patients in a standardized way, and these studies evaluate very few patients.
It seems therefore essential to study in a standardized way the neurocognitive development of these patients in order to evaluate the impact of the care.
The VINELAND adaptative behaviour scale II has been chosen because it can evaluate a patient whatever the age or the intellectual abilities through a semi-structured questionnaire completed with the parents, and gives a wide view of the neurocognitive development and everyday life autonomy of the patients.
Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Interventions
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VINELAND II
Standardised questionnaire filled by the investigator during an interview with the parents or with the patient himself if capable of it. Duration 1 hour to 1 hour and a half.
Eligibility Criteria
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Inclusion Criteria
* Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
* No objection of the patient or his legal representatives.
Exclusion Criteria
3 Years
ALL
No
Sponsors
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University Hospital, Angers
OTHER_GOV
Responsible Party
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Principal Investigators
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Patrick VAN BOGAERT, PhD - MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Angers
Locations
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CHU Angers
Angers, , France
Centre Hospitalier Universitaire de Besançon
Besançon, , France
CHRU Morvan
Brest, , France
CHU d'Estaing
Clermont-Ferrand, , France
Hôpital Bicêtre
Le Kremlin-Bicêtre, , France
Hôpital Jeanne de Flandre
Lille, , France
Hôpital de la Timone-Enfants
Marseille, , France
CHU Gui de Chautiac
Montpeliier, , France
Hôpital Necker-Enfants malades
Paris, , France
Centre Hospitalier Saint Nazaire
Saint-Nazaire, , France
CHU Toulouse
Toulouse, , France
Hôpital Clocheville
Tours, , France
Countries
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References
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Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22.
Wilson MP, Plecko B, Mills PB, Clayton PT. Disorders affecting vitamin B6 metabolism. J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20.
Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr. 2009 Jun;168(6):697-704. doi: 10.1007/s00431-008-0823-x. Epub 2008 Sep 2.
Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999 Nov;81(5):431-3. doi: 10.1136/adc.81.5.431.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1.
Tourrette C., Evaluer les enfants avec déficiences ou troubles du développement. PARIS : Dunod, 2006
Fombonne E. ; Achard S. ; Tuffreau R. L'évaluation du comportement adaptatif : l'échelle de Vineland. In Handicap et inadaptations. Les Cahiers du CTNERHI, n° 67-68, juil. / déc. 1995. p. 79-90.3
Gioia GA, Isquith PK, Guy SC, Kenworthy L. The Behaviour Rating Inventory of Executive Function. Lutz, FL: Psychological Assessment Resources; 2000.
Gibaud M, Barth M, Lefranc J, Mention K, Villeneuve N, Schiff M, Maurey H, Barthez MA, Caubel I, Chouchane M, Doummar D, Kossorotoff M, Lamblin MD, Roubertie A, Nabbout R, Van Bogaert P. West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature. Front Pediatr. 2021 Mar 5;9:621200. doi: 10.3389/fped.2021.621200. eCollection 2021.
Other Identifiers
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49RC23_0181
Identifier Type: -
Identifier Source: org_study_id
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