The study*s main objectives are to investigate change in nutrient intake after a 24-week intervention with PKU Synergy in PKU subjects with an increased Phe-tolerance/intake and to evaluate product acceptability.
ID
Source
Brief title
Condition
- Inborn errors of metabolism
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Main outcome parameters:
*Nutrient intake (three-day diet diary)
*Product acceptability (questionnaire)
Secondary outcome
Other parameters:
*Compliance (weekly)
*Blood chemistry: Full fatty acid profile, full amino acid profile, Vitamins
B1, B6, B12 & D; Folic acid; Selenium; Iodine; Calcium; Zinc; Iron; Copper;
Manganese
*Biweekly dried bloodspot Phe-levels
Background summary
Phenylketonuria (PKU) is an inherited metabolic disorder, where subjects are
born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH).
Due to the genetic deficit, Phe accumulates in the blood. Left untreated, PKU
leads to severe mental retardation and neurological disabilities.
The principal goal of dietary management in PKU is to prevent an excessive Phe
accumulation in the blood and brain through means of a low Phe diet.
This classical treatment is well established for PKU patients and known to be
effective and safe. Since 2008 a subgroup of patients has been treated with
sapropterin dihydrochloride (BH4 treatment) with the goal to enhance the
residual PAH activity.
PKU patients who are on a relaxed diet due to BH4 treatment, increase their
daily tolerance and intake of phenylalanine (Phe). This means they can consume
a higher amount of protein-containing natural foods. Recent research showed
that patients do not easily change eating habits. Even though they can move
more towards a normal diet, their food choice still differs significantly
compared to controls without PKU. Consequently, this group of PKU patients does
not meet the recommended intake of micronutrients and amino acids.
There are other PKU patients (mild) who also relax their diet by increasing
their Phe intake >1000mg/day. The food choice and eating habits of this patient
group, continue to differ significantly from the healthy, age-matched
population, even after relaxation of their diet. In general, basic eating
habits develop during early childhood and remain stable throughout life.
Therefore, PKU patients under a relaxed diet are at risk of an insufficient
nutrient supply.
The amino acid mixtures that are currently available do not provide the
required amount of the necessary micronutrients and amino acids this group
needs. Therefore the sponsor of this study designed a new product PKU Synergy,
adjusted to the group*s specific needs
Study objective
The study*s main objectives are to investigate change in nutrient intake after
a 24-week intervention with PKU Synergy in PKU subjects with an increased
Phe-tolerance/intake and to evaluate product acceptability.
Study design
A 24-week open label, explorative, post launch, multicenter, multi-country
intervention study
Intervention
PKU Synergy is intended for oral use only. The daily indicated dosage is one
33g stick pack of test product, taken once per day at a fixed time for 24
weeks, e.g. at breakfast or supper.
Study burden and risks
For patients, questionnaires will be administered online on five time points
and they will be asked to complete a paper 3-day dietary intake diary twice.
They will be asked to visit the hospital twice. In addition, a blood spot will
be collected biweekly and 22 ml blood via venapunction will be drawn twice
during the hospital visits. Subjects will need to be fasted (8 hours) at the
time of blood drawing, and will be asked not to take any vigorous exercise in
the 24 hours prior to a visit. Subjects will take the study product once daily
for 24 weeks.
Uppsalalaan 12
Utrecht 3584 CT
NL
Uppsalalaan 12
Utrecht 3584 CT
NL
Listed location countries
Age
Inclusion criteria
Inclusion criteria:
1. PKU subjects identified by newborn screening and started low-Phe diet before
3 months of age.
2. PKU subjects with an increased Phe-tolerance/intake due to: mild PKU
phenotype or BH4 treatment.
3. If treated with BH4, PKU subjects should be on a stable BH4 treatment for at
least 26 consecutive weeks up to start test product intake.
4. Age*12 years.
5. If subjects (irrespective whether BH4 users or mild PKU) use amino-acid
mixture(s; AAM), then a maximum of 25 Protein Equivalents (PE) derived from the
AAM per day applies and usage on a daily basis for at least 26 consecutive
weeks up to Visit 1
6. If subjects (irrespective whether BH4 users or mild PKU) use AAMs they
should be capable and willing to substitute their current AAM(s; maximum of 25
PE per day) with one portion of the test product per day
7. If subjects (irrespective whether BH4 users or mild PKU) use omega-3,
antioxidant, and/or vitamin supplements, to stop usage of the supplements and
be able and willing to substitute with the test product
8. Willing and able to comply with study procedures, 9. Willing and able to
provide informed consent (and assent in case of minors if required by local
law/regulations).
10. For women of childbearing potential: not to have the intention to become
pregnant during the study.
Exclusion criteria
Exclusion criteria:
1. For women: Currently pregnant or lactating.
2. Current or prior use of the test product within six weeks prior to entry
into the study.
3. Concurrent conditions (including renal failure and severe hepatic failure)
and medication that could interfere with participation, outcome parameters or
safety (as determined by Investigator).
4. Psychotropic medication (i.e. medication affecting the nervous system) and
inotropic medication.
5. Any condition creating high risk of poor compliance with study.
6. Participation in any other studies involving investigational or marketed
products concomitantly or within six weeks prior to entry into the study.
Except for studies related to Kuvan® (synthetic tetrahydrobiopterin (BH4))
without diagnostic, therapeutic or experimental intervention.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL63473.042.19 |