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Pyridoxine-Dependent EpilepsyEPIDEV-B6NCT06054347

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

An observational study of Pyridoxine-Dependent Epilepsy, run by University Hospital, Angers at 12 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 3 years and older
Conditions the study is for
Pyridoxine-Dependent Epilepsy
What is being tested?
VINELAND II
How many people
30 participants
Where
12 sitesFrance
Study dates
29 Dec 2023to 21 May 2025
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 3 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

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

Who may be able to join

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

Who cannot join

  • Poor understanding of French language.

Trial locations and contacts

12 sites in 1 country.

12 sites in 1 country

France12 sites

  • CHU Angers

    Angers, 49100

  • Centre Hospitalier Universitaire de Besançon

    Besançon, 25030

  • CHRU Morvan

    Brest, 29609

  • CHU d'Estaing

    Clermont-Ferrand, 63003

  • Hôpital Bicêtre

    Le Kremlin-Bicêtre, 94270

  • Hôpital Jeanne de Flandre

    Lille, 59037

  • Hôpital de la Timone-Enfants

    Marseille, 13005

  • CHU Gui de Chautiac

    Montpellier, 34295

  • Hôpital Necker-Enfants malades

    Paris, 75749

  • Centre Hospitalier Saint Nazaire

    Saint-Nazaire, 44600

  • CHU Toulouse

    Toulouse, 31100

  • Hôpital Clocheville

    Tours, 37000

Other trials in France

About this study

Official title: Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency

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.

Read the detailed description

Pyridoxine dependent epilepsy related to antiquitine deficiency is a rare and severe genetic epilepsy that usually starts within the first month of life. The treatment is based on high dose of Vitamin B6 (Pyridoxine) which is usually highly effective to control the seizures. However, most patients show impaired neurodevelopment.

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.

Being tested
VINELAND II
Medical subject headings
Pyridoxine-dependent epilepsy

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • VINELAND IIOther

    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.

What is being measured

The primary outcome is the main question the study is designed to answer.

  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

    Measured: Baseline

Secondary outcomes (4)

  1. 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

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible

    Measured: Baseline

  2. Evaluation of executive functions with the BRIEF scale

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration.

    Measured: Baseline

  3. Clinical and para-clinical description of the population studied

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible.

    Measured: Baseline

  4. genotype phenotype correlation

    study the genotype phenotype correlation in the light of patient long term neurocognitive development

    Measured: baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted26 Sep 2023
  2. Study start29 Dec 2023
  3. Primary completion21 May 2025
  4. Study completion21 May 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Cross-sectional
Enrolment
30 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06054347
Sponsor's protocol ID
49RC23_0181
Acronym
EPIDEV-B6
Status last verified
Aug 2025
First submitted
19 Sep 2023
Last updated
10 Aug 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 30043187

  • 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.

    PubMed 30671974

  • 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.

    PubMed 18762976

  • 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.

    PubMed 10519720

  • 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.

    PubMed 33200442

  • 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.

    PubMed 33748042

Questions about this trial

What is this clinical trial studying?

An observational study of Pyridoxine-Dependent Epilepsy, run by University Hospital, Angers at 12 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 10 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 12 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores (time frame: Baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06054347, which also lists 9 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Aug 2026.

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