Health TrialsbyHealthPanel

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

ConditionPhenylketonurias
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age16+
SponsorEmory University

About this trial

Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol/L, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

16 years of age or older

diagnosed with PKU through newborn screening or via diagnosis later in life

capable of providing consent for medical tests and procedures

prescription for Palynziq and be enrolled in the Palynziq Risk Evaluation and Mitigation Strategy (REMS) program

Disqualifiers

unable to provide consent

a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders

Trial population

Patients who have been diagnosed with PKU

Trial design

Design model

Case-only

Time perspective

Prospective

Treatments tested in this trial

  • Palynziq

    Drug

    Participants will take Palynziq as prescribed by their genetics doctor. In accordance with the Palynziq Risk Evaluation and Mitigation Strategy (REMS) protocol, patients will have their first injection of Palynziq at the Emory Genetics Clinic under the supervision of a physician. After initiating therapy, patients will continue to mail in blood spot filter papers and 3-day dietary records to their clinic providers as standard components of clinical care.

Treatment groups

45 Participants
are divided into 1 treatment group
Group A: Palynziq Therapy for PKU1 intervention

Trial outcomes

Primary outcomes

1

Intra-subject Change in Intact Protein Intake

Intra-subject change in intact protein intake will be assessed by participant-reported 3-day dietary records.

Time frame
Baseline through 12 Months Post-Response (up to 14 months after baseline)
2

Intra-subject Change in Medical Food Protein Intake

Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.

Time frame
Baseline through 12 Months Post-Response (up to 14 months after baseline)
3

Sub study: Intra-subject change in intact protein and medical food protein intake.

Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.

Time frame
12 Months Post-Response through additional five years (6 years post-response)

Secondary outcomes

1

Change in Average Intact Protein Intake

Average intact protein intake will be determined by participant-reported 3-day dietary records.

Time frame
Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
2

Days From Palynziq Initiation to Response

The average length of time (in days) from Palynziq initiation until response, as defined by three consecutive plasma Phe levels lower than the upper limit of the recommended treatment range (\<360 μmol/L) and a significant increase in intact protein intake (at least 60 percent of the dietary reference intake (DRI) or a two-fold increase from baseline diet prescription), will be determined.

Time frame
Baseline up to Response (up to 60 days)
3

Days From Palynziq Initiation to Consumption of Dietary Reference Intake for Intact Protein

The average length of time (in days) from Palynziq initiation it takes for participants to consume the dietary reference intake for intact protein (46g females, 56g males).

Time frame
Baseline up to 12 Months Post-Response (up to 14 months after baseline)
4

Change in Neuro-QOL - Cognitive Function - Short Form Score

The Neuro-QOL Cognitive Function Short Form includes 8 items asking participants about their cognition during the past 7 days. Responses to statements of if cognition problems are occurring are given on a scale from 1 to 5 where 1 = very often and 5 = never. The amount of difficulty experienced from daily life tasks are responded to on a scale from 1 to 5 as 1 = cannot do task and 5 = no difficulty. Scores are scaled to a T-score with a mean of 50 and a standard deviation of 10. Scores higher than 50 indicate that the respondent in experiencing more cognition problems than the average person.

Time frame
Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Emory University

Lead sponsor

BioMarin Pharmaceutical

Collaborator

Source ClinicalTrials.gov
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