Evaluation of PKU Sphere in Italy

NCT04679467 | Completed

• 1 other identifier: MCT-W-GMPIT-2019-03-08
• Study Type: interventional
• Target: 13
• Locations: 1 country
• Sites: 4

Brief Summary

20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so. Participants will complete a gastrointestinal specific and PKU specific questionnaire at the Baseline clinic visit and record the amount of PKU sphere taken each day. Dried blood spots are taken twice per week. Once built up to a clinically appropriate intake of PKU sphere, or after 16 weeks, participants enter a 4-week Evaluation Period. The amount of PKU sphere taken per day continues to be recorded by participants. Gastrointestinal tolerance over the preceding seven days is recorded at the end of each week. Evaluations of PKU sphere's palatability are made at the end of weeks two and four of the Evaluation Period. Dried blood spots are taken once per week. The participant attends an End of Study Visit at the clinic and the investigator decides whether they should continue taking PKU sphere.

Conditions

Phenylketonurias; PKU

Keywords

Phenylketonuria; PKU; Glycomacropeptide; Food for Special Medical Purposes

Outcome Measures

Primary Outcomes (10)

• Change in adherence to recomended amounts of PKU sphere

  Patient reported data on actual compared to prescribed intakes of PKU sphere

  Recorded daily from start of 2-16 week Build-up and Stabilisation Period to end of 4 week Evaluation Period, assessed by HCPs periodically as per routine practice.

• Change in gastrointestinal tolerance

  Patient reported data on any gastrointestinal symptoms experienced

  Data on previous 7 days collected by patients at the end of each Evaluation Period week. This data will be assessed by HCPs periodically as per routine practice.

• Patient evaluation of PKU sphere's palatability, Evaluation Period week 2

  Patient reported Likert-scale evaluation of PKU sphere's appearance, smell, taste, aftertaste, texture, packaging/presentation and ease of use. A higher score denotes a more positive response.

  End of Evaluation Period week 2.

• Patient evaluation of PKU sphere's palatability, Evaluation Period week 4

  Patient reported Likert-scale evaluation of PKU sphere's appearance, smell, taste, aftertaste, texture, packaging/presentation and ease of use. A higher score denotes a more positive response.

  End of Evaluation Period week 4.

• Change in metabolic control (phenylalanine) over Build-up and Stabilisation Period.

  Phenylalanine levels obtained from dried blood spots

  Dried blood spots taken twice weekly during 2-16 week Build-up and Stabilisation Period.

• Change in metabolic control (phenylalanine) over Evaluation Period.

  Phenylalanine levels obtained from dried blood spots

  Dried blood spots taken once weekly during 4-week Evaluation Period.

• Change in metabolic control (tyrosine) over Build-up and Stabilisation Period.

  Tyrosine levels obtained from dried blood spots

  Dried blood spots taken twice weekly during 2-16 week Build-up and Stabilisation Period.

• Change in metabolic control (tyrosine) over Evalaution Period.

  Tyrosine levels obtained from dried blood spots

  Dried blood spots taken once weekly during 4-week Evalaution Period.

• Change in gatrointestinal quality of life

  Age-specific, GI related quality of life questionnaire completed by participants. The specific version of the questionnaire to be used by each age group is listed below: Age 2-4 years (Parental completion) = MAPI PedsQL Gastrointestinal Symptoms Scales, Toddlers (2-4) Age 5-7 years (Parental completion) = MAPI PedsQL Gastrointestinal Symptoms Scales, Young Children (5-7) Age 8-12 years (Parental completion) = MAPI PedsQL Gastrointestinal Symptoms Scales, Children (8-12) Age 13-18 years = MAPI PedsQL Gastrointestinal Symptoms Scales, Teens (13-18) Age 18 years and upwards = Birmingham IBS Symptom Questionnaire The MAPI PedsQL Gastrointestinal Symptoms Scale questionnaires and the Birmingham IBS symptom Questionnaire indicate fewer problems with higher calculated scores.

  Baseline visit (day one) and End of Study visit (post day-28 of Evaluation Period)

• Change in PKU specific quality of life

  Age-specific, PKU related quality of life questionnaire completed by participants. The specific version of the questionnaire to be used by each age group is listed below: Age \>9 years = MAPI phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL), Parents Age 9-11 years = MAPI phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL), Children Age 12-17 years = MAPI phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL), Adolescent Age 18+ years = MAPI phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL), Adult With all versions of the PKU-QOL, a higher calculated score denotes higher quality of life.

  Baseline visit (day one) and End of Study visit (post day-28 of Evaluation Period)

Study Arms (1)

Experimental - single arm

EXPERIMENTAL

All patients to recieve PKU sphere as part of their dietary management for phenylketonuria (PKU)

Dietary Supplement: PKU sphere

Interventions

PKU sphere DIETARY_SUPPLEMENT

TYR sphere is a powdered, low phenylalanine and tyrosine protein substitute, containing a balanced mix of casein glycomacropeptide (cGMP) isolate, essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals and the long chain polyunsaturated fatty acid (LCP); Docosahexaenoic acid (DHA). It contains sugars and sweetener. The product is designed to be prescribed based on its protein content, not its energy content.

Experimental - single arm

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients diagnosed with PKU or hyperphenylalaninemia via new born screening and early treated, requiring \>50% of protein intake from protein substitute.
• Aged 3 years and above.
• Female patients of childbearing potential must have a negative urine pregnancy test prior to completing the screening procedures.
• Willingly given, written, informed consent from the participant, 18 or more years, or from the parent/guardian for participants \< 18 years.
• Willingly given, written assent (if appropriate) for those \< 18 years.

You may not qualify if:

• Pregnant, planning pregnancy or breastfeeding.
• Intake of sapropterin dihydrochloride (Kuvan), PEG PAL or large neutral amino acids within 30 days prior to screening visit.
• Patients currently taking their maximum recommended amount of protein substitute from a GMP based protein substitute.
• Patients who are unable/unwilling to replace their current GMP protein substitute (if any) with PKU sphere.
• Patients with known soya, milk or fish allergies / intolerance.
• Individuals, who in the opinion of the investigator, are unable to comply with the requirements of the protocol.
• Any co-morbidity, which in the opinion of the Investigator, would preclude participation in the study.
• Patients who are currently participating in, plan to participate in, or have participated in an interventional investigational drug, food or medical device trial within 30 days prior to screening visit.

Sponsors & Collaborators

• Vitaflo International, Ltd: lead

Study Sites (4)

Sant'Orsola-Malpighi Polyclinic (adults)

Bologna, Italy

Location

Sant'Orsola-Malpighi Polyclinic (paediatrics)

Bologna, Italy

Location

Ospedale San Paolo

Milan, Italy

Location

A.O.R.N. Santobono-Pausilipon - Ospedale Santobono

Naples, Italy

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Giulio Marchesini Reggiani

  Universita di Bologna

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: Open-label.
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: Open-label, single group interventional study.

Study Record Dates

• First Submitted: November 26, 2020
• First Posted: December 22, 2020
• Study Start: August 10, 2020
• Primary Completion: July 31, 2022
• Study Completion: July 31, 2022
• Last Updated: April 13, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (4)