Clinical trial NCT06309251: Effectiveness and Impact on the Quality of Life of Ketogenic Diet in Pediatric Patients
Official title: Clinical and Nutritional Effectiveness and Impact on the Quality of Life of the Ketogenic Diet in Pediatric Patients With Neurological, Genetic or Metabolic Disorders: a Multicenter Prospective Observational Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Drug Resistant Epilepsy
Autism Spectrum Disorder
Chronic Migraine
Brain Tumor, Pediatric
Lead sponsor: Danone Nutricia SpA Società Benefit
Sponsor class: INDUSTRY
First posted: 2024-03-13
Enrollment: 100
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pediatri patients (0-18 years) affected by any disease which require a ketogenic diet (KD), i.e. metabolic or genetic disorder or neurological (congenital and acquired) diseases

Brief summary: The goal of this observational study is to learn about the clinical and nutritional effectiveness of ketogenic diet (KD) in pediatric patients with genetic, neurological or metabolic conditions requiring KD.

The main question\[s\] it aims to answer are:

* does KD support adequate growth?
* does KD improve clinical symptoms?
* how does KD impact quality of life? Participants will be followed up as per clinical practice

Detailed description: Scientific and clinical interest in KD is growing with a progressive increase in its therapeutic indications, ie recent studies show beneficial effects of KD in other diseases like migraine, autism spectrum disorder and brain tumors.

However, so far, the majority of results on KD effects have been collected in patients with drug-resistant epilepsy proving its effectiveness on clinical outcome (e.g. reducing epileptic seizures), frequently leaving out the nutritional assessment and the impact on quality of life. Nonetheless, these factors are indeed essential to ensure safety and efficacy of KD treatment, especially when dealing with children and in perspective of the progressive expansion of the target population that can benefit from this nutritional therapy.

The present multicenter study aims to analyse these poorly explored areas, by evaluating, in a cohort of pediatrics patient with indication to KD therapy, not only the KD effectiveness on the course of the underlying disease, but also the impact on nutritional parameters (e.g. growth, lipid profile, vitamin intake, bone mineral density, ..) and on quality of life.

Eligibility criteria: Inclusion Criteria:

* Pediatric patients (aged \< 18 years) with drug-resistant epilepsy (fail to achieve (and maintain) seizure freedom with adequate trials of two or more antiseizure medications) or genetic, metabolic, neurological (congenital and acquired) diseases treated with ketogenic diet
* Pediatric patients (aged \< 18 years) with metabolic, genetic or neurological (congenital and acquired) diseases (not necessarily associated with drug-resistant epilepsy) treated with ketogenic diet; this includes the new KD indications or the administration of KD in the ICU for status epilepticus.

Exclusion Criteria:

* Patients affected by beta-oxidation cycle disorders, systemic primary carnitine deficiency, primary dyslipidemia, pyruvate carboxylase deficiency, porphyria, mitochondrial disease, defects in ketone body metabolism (ketogenesis or ketolysis), defect in gluconeogenesis.
* Children with type 1 diabetes
* Parents (or caregivers) unable to guarantee adherence to the

Primary outcomes:
measure: Nutritional adequacy
timeFrame: 6 months
Secondary outcomes:
measure: Nutritional adequacy
timeFrame: 6 months,(12 months optional)
measure: % of responders to KD
timeFrame: 6 months,(12 months optional)
measure: Health related quality of life improvement through parent questionnaire
timeFrame: 6 months,(12 months optional)
Other outcomes:
Locations:
city: Milan
country: Italy
facility: ASST Fatebenefratelli Sacco (PO "V. Buzzi")
state: MI
city: Pavia
country: Italy
facility: Fondazione "Istituto Neurologico Nazionale C. Mondino"
state: PV
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
state: RM
Study officials:
References:
citation: Bertoli S, Foppiani A, De Amicis R, Leone A, Mastella C, Bassano M, Giaquinto E, Baranello G, Battezzati A. Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. Eur J Clin Nutr. 2019 Dec;73(12):1646-1648. doi: 10.1038/s41430-019-0392-2. Epub 2019 Jan 15.
citation: Cole TJ, Flegal KM, Nicholls D, Jackson AA. Body mass index cut offs to define thinness in children and adolescents: international survey. BMJ. 2007 Jul 28;335(7612):194. doi: 10.1136/bmj.39238.399444.55. Epub 2007 Jun 25.
citation: Hershey AD, Powers SW, Vockell AL, LeCates S, Kabbouche MA, Maynard MK. PedMIDAS: development of a questionnaire to assess disability of migraines in children. Neurology. 2001 Dec 11;57(11):2034-9. doi: 10.1212/wnl.57.11.2034.
citation: Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR Jr, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC; Charlie Foundation; Matthew's Friends; Practice Committee of the Child Neurology Society. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018 May 21;3(2):175-192. doi: 10.1002/epi4.12225. eCollection 2018 Jun.