A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

A Collection of Case Studies in Infants With Urea Cycle Disorders (UCD) to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

Original study: Study aims to enroll 3-5 children with confirmed Urinary Cycle Disorder (UCD). Subjects meeting the inclusion and exclusion criteria are included during the baseline visit. All subjects will receive the investigational product for a period of 16 weeks. At baseline, 2, 4, 8, 12 and 16 weeks the study parameters are assessed.

The study amendment aims to collect case studies retrospectively of children who have used UCD Anamix Infant for at least 16 weeks, in countries where UCD Anamix Infant is already available on the market. It is aimed to collect the same study parameters of the original study at preferably the same timepoints.

Study Overview

• Status: Completed
• Conditions: Inborn Errors of Metabolism; Urea Cycle Disorder
• Intervention / Treatment: Other: UCD Anamix Infant

• Study Type: Interventional
• Enrollment (Actual): 3
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 1 year (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion criteria:

Prospective study:

• Male and female infants diagnosed with UCD, aged from birth to 30 days of age
• Parent / primary caregiver is able to give informed consent
• Infants who will receive and will be able to take study medical food as part (40-70%) of their protein requirements in the day

Retrospective study:

• Male and female term infants diagnosed with UCD, that started UCD Anamix Infant when aged from birth to 30 days of age.
• Parent / primary caregiver is able to give informed consent
• Infants who received UCD Anamix Infant as part of their protein requirements (40-70%) in the day for at least 16 weeks.

Exclusion Criteria:

• Infants < 5lb 8oz (< 2.5 kg) at birth
• Infants <34 weeks of gestation and using a special premature formula at study start
• Infants with severe concurrent illness or major congenital malformations, except conditions consequent to urea cycle disorder
• Infants with suspected or documented systemic or congenital infections (e.g. human immunodeficiency virus)
• Infants with evidence of significant cardiac, respiratory, haematological, gastrointestinal, or other systemic diseases
• Infants currently taking cytotoxic drugs
• Investigator's uncertainty about the willingness or ability of the parent to comply with the protocol requirements
• Participation in any other study involving investigational products concomitantly or prior to entry into the study
• An infant of any personnel connected with the study
• Infants whose parent / primary caregiver is younger than the legal age of consent

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Open label; UCD Anamix Infant	Other: UCD Anamix Infant; UCD Anamix infant with DHA and ARA is an amino acid based infant medical food containing only the essential amino acids, carbohydrate, fat, vitamins, minerals and trace elements.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Growth: weight	weight [kg]	16 weeks
Growth: length	length [cm]	16 weeks
Growth: head circumference	head circumference [cm]	16 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
GI symptoms [absent/mild/moderate/severe]	GI symptoms for the following symptoms: Vomiting (>1 tablespoon/15ml); Abdominal distension; Burping; Flatulence; Diarrhoa; Constipation; Colic (cramps); Regurgitation (<1 tablespoon/15ml)	16 weeks
Stool frequency	stool frequency [# times/day]	16 weeks
Stool consistency	stool consistency: quantification score: [Watery; Soft, puddinglike; Soft, formed; Dry, formed; Dry, hard pellets]	16 weeks
Compliance: product intake	Intake of medical food compared to amount prescribed [ volume: ml per day]	16 weeks
Protein and iron levels from blood samples (for retrospective study part only if data available)	Protein, amino acids and nutrient levels in blood [g/dL] or [umol/L]	16 weeks

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety and tolerability: (S)AE	Occurence of (Serious) Adverse Events	16 weeks

Collaborators and Investigators

• Sponsor: Nutricia Research

Study record dates

Study Major Dates

• Study Start (Actual): May 28, 2013
• Primary Completion (Actual): November 1, 2019
• Study Completion (Actual): November 1, 2019

Study Registration Dates

• First Submitted: August 28, 2018
• First Submitted That Met QC Criteria: April 9, 2019
• First Posted (Actual): April 10, 2019

Study Record Updates

• Last Update Posted (Actual): December 9, 2021
• Last Update Submitted That Met QC Criteria: December 8, 2021
• Last Verified: December 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn
• Other Study ID Numbers: MPR15IN89539

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No