Nutritional Formulation for Angelman Syndrome

Brief Title

Nutritional Formulation for Angelman Syndrome

Official Title

Evaluation of the Safety and Tolerability of a Nutritional Formulation in Angelman Syndrome

Brief 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.
    


Study Type

Interventional


Primary Outcome

Compliance with feeding protocol

Secondary Outcome

 Convenience, taste, and acceptability

Condition

Angelman Syndrome

Intervention

Nutritional Formulation Containing Exogenous Ketones

Study Arms / Comparison Groups

 Investigational
Description:  Subjects assigned to this arm will receive the Nutritional Formulation containing exogenous ketones.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Dietary Supplement

Estimated Enrollment

15

Start Date

November 1, 2018

Completion Date

January 15, 2020

Primary Completion Date

January 15, 2020

Eligibility Criteria

        Inclusion Criteria:

          -  Male or female

          -  4-11 years of age

          -  Diagnosed with Angelman syndrome with prior lab report indicating genetic diagnosis

          -  Currently on a LGIT, KD, or standard diet consistently for at least three months

          -  Motivated to maintain the LGIT or KD for at least the duration of the trial period, as
             applicable

          -  Written informed consent from patient and/or parent/caregiver

          -  Willing to drink provided formulations, or to eat them mixed with food

          -  Daytime toilet trained, or parents willing to use cotton balls in diapers to sample
             urine

          -  Willing to test urine daily

          -  Willing to comply with protocol examinations, including EEG, ERP, and venipuncture

          -  Ambulatory, willing to perform gait tracking

        Exclusion Criteria:

          -  Being pregnant or planning pregnancy

          -  Requiring parenteral nutrition

          -  Major hepatic or renal dysfunction

          -  History of a diagnosis of diabetes

          -  Participation in other clinical intervention studies within 1 month prior to entry of
             this study

          -  Allergy to any of the study product ingredients

          -  Investigator concern around willingness/ability of patient or parent/caregiver to
             comply with protocol requirements

          -  Any contraindications for the use of the ketogenic or low carbohydrate diets

          -  Significantly underweight (Body Mass Index <18.5)

          -  Unwilling to drink provided formulations, or to consume formulation mixed with food

          -  Not ambulatory, or unwilling to perform gait tracking

          -  Not daytime toilet trained, or parents unwilling to use cotton balls in diapers to
             sample urine

          -  Unwilling to test urine daily
      

Gender

All

Ages

4 Years - 11 Years

Accepts Healthy Volunteers

No

Contacts

Jessica Duis, MD, MS, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03644693

Organization ID

20-0366


Responsible Party

Sponsor

Study Sponsor

University of Colorado, Denver


Study Sponsor

Jessica Duis, MD, MS, Principal Investigator, Children's Hospital Colorado


Verification Date

August 2020