Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy

NCT06054347 | Completed

• 1 other identifier: 49RC23_0181
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 12

Brief Summary

This study aims to evaluate with the VINELAND II scale the long-term neurocognitive development of children above age 3 years with pyridoxine dependent epilepsy related to antiquitine deficiency.

Conditions

Pyridoxine-Dependent Epilepsy

Outcome Measures

Primary Outcomes (1)

• Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores

  Standardized questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 5 domains. Maximum score 160, minimum score 20, mean score 100, standard deviation 15

  Baseline

Secondary Outcomes (4)

• Determine if the treatments actually used for patients with pyridoxine dependent epilepsy have an impact on their long-term neurocognitive development, especially the lysine restricted diet

  Baseline

• Evaluation of executive functions with the BRIEF scale

  Baseline

• Clinical and para-clinical description of the population studied

  Baseline

• genotype phenotype correlation

  baseline

Interventions

VINELAND II OTHER

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

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Cohort of patients diagnosed with pyridoxine dependent epilepsy and already published (Gibaud et al) completed with new cases.

You may qualify if:

• Age above 3 years old
• Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
• No objection of the patient or his legal representatives.

You may not qualify if:

• Poor understanding of French language.

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (12)

CHU Angers

Angers, 49100, France

Location

Centre Hospitalier Universitaire de Besançon

Besançon, 25030, France

Location

CHRU Morvan

Brest, 29609, France

Location

CHU d'Estaing

Clermont-Ferrand, 63003, France

Location

Hôpital Bicêtre

Le Kremlin-Bicêtre, 94270, France

Location

Hôpital Jeanne de Flandre

Lille, 59037, France

Location

Hôpital de la Timone-Enfants

Marseille, 13005, France

Location

CHU Gui de Chautiac

Montpeliier, 34295, France

Location

Hôpital Necker-Enfants malades

Paris, 75749, France

Location

Centre Hospitalier Saint Nazaire

Saint-Nazaire, 44600, France

Location

CHU Toulouse

Toulouse, 31100, France

Location

Hôpital Clocheville

Tours, 37000, France

Location

Related Publications (9)

• 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.

  PMID: 30043187 BACKGROUND

• 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.

  PMID: 30671974 BACKGROUND

• 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.

  PMID: 18762976 BACKGROUND

• 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.

  PMID: 10519720 BACKGROUND

• 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.

  PMID: 33200442 BACKGROUND

• Tourrette C., Evaluer les enfants avec déficiences ou troubles du développement. PARIS : Dunod, 2006

  BACKGROUND

• 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

  BACKGROUND

• Gioia GA, Isquith PK, Guy SC, Kenworthy L. The Behaviour Rating Inventory of Executive Function. Lutz, FL: Psychological Assessment Resources; 2000.

  BACKGROUND

• 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.

  PMID: 33748042 BACKGROUND

MeSH Terms

Conditions

Pyridoxine-dependent epilepsy

Study Officials

• Patrick VAN BOGAERT, PhD - MD

  University Hospital, Angers

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2023
• First Posted: September 26, 2023
• Study Start: December 29, 2023
• Primary Completion: May 21, 2025
• Study Completion: May 21, 2025
• Last Updated: August 11, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (12)