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

Study Overview
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Brief Summary
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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.

Official Title
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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

Conditions
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Urea Cycle Disorder, Inborn Errors of Metabolism

Intervention / Treatment
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* Other: UCD Anamix Infant


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Maximum Age: 30 Days

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Open label<br>UCD Anamix Infant | Other: UCD Anamix Infant<br>* 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.<br>|

What is the study measuring?
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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 |