Nutritional Formulation for Angelman Syndrome
Condition: Angelman Syndrome
MeSH terms: Angelman Syndrome; Syndrome
Study type: Interventional

Summary: 
      Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have
      been shown to be effective in treating drug resistant seizures in children with Angelman
      syndrome (AS). The investigators hypothesize that consuming a fat based nutritional
      formulation with an exogenous ketone throughout the day will produce urinary ketosis in
      children consuming both low and high carbohydrate diets, depending upon dietary background.
      The nutritional formulation will provide fuel substrates that push metabolism away from
      carbohydrates and towards fat utilization. This research is being done to assess the safety
      and tolerability of a nutritional formulation for use in dietary interventions in AS.
    

Detailed description: 
      An evaluation of the safety and tolerability of a nutritional formulation in Angelman
      syndrome in children ages 4-11 years.

      Study is conducted over 16 weeks:

      2 week baseline period - Patient continues on current dietary regimen they were on before
      joining the study (standard, ketogenic, or LGIT).

      4 week intervention period - Patient consumes either placebo or nutritional formulation for 4
      weeks, maintaining their current diet.

      4 week washout period - Patient continues on current dietary regimen without consuming any
      study formulations.

      4 week intervention period - Patient consumes either placebo or nutritional formulation for 4
      weeks (crossover), maintaining their current diet.

      2 week washout period - Patient continues on current dietary regimen without consuming any
      study formulations.

      Follow-up phone call to be conducted by study personnel during this time.

      Data is captured by the investigator during baseline, intervention, and washout periods, and
      by the parent/caregiver daily throughout the protocol using apps loaded on a provided tablet.
    

Intervention name(s): Nutritional Formulation Containing Exogenous Ketones; Placebo Formulation
Intervention type(s): Dietary Supplement; Dietary Supplement
Intervention description(s): A nutritional formulation providing beta-hydroxybutyrate, 2g of carbohydrate, 1g of protein, and 9g of fat, plus minerals, per 100kcal. Given orally as food or beverage three times daily.; A placebo formulation providing similar amounts of carbohydrates, proteins and minerals as the nutritional formulation. Given orally as food or beverage three times daily.
Allocation: Randomized
Intervention model: Crossover Assignment
Intervention model description: The study design for this nutritional intervention protocol is a randomized, double blind, placebo controlled crossover study. Each patient will receive both nutritional formulation and placebo formulation, with a washout period between each arm. The dietary backgrounds will differ among patients. Acceptable diets include three basic diets: ketogenic diet (i.e. conventional 4:1 or 3:1, modified Atkins), low glycemic index diet (LGIT), and standard American diet (regular diet).
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary purpose: Other
Keywords: Angelman Syndrome; Ketosis; Children