PhenylketonuriasNCT04404530
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
An observational study of Phenylketonurias, run by Emory University at 2 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Phenylketonurias
- What is being tested?
- Palynziq
- Type of treatment
- Injection or infusion
- How many people
- 45 participants
- Where
- 2 sitesUnited States
- Study dates
- 8 Oct 2019to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients who have been diagnosed with PKU
Who may be able to join
- 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
- Substudy: Participants must have completed visit 2 of the main study
Who cannot join
- unable to provide consent
- a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Emory University Hospital Georgia Clinical Research Center
Atlanta, Georgia, 30322
- Recruiting
The Emory Clinic
Atlanta, Georgia, 30322
About this study
Official title: Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome
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.
Read the detailed description
Phenylketonuria (PKU) is an autosomal recessive disorder caused by more than 500 pathogenic variants in the phenylalanine hydroxylase (PAH) gene. Due to these mutations, affected individuals have reduced activity or complete deficiency of the enzyme phenylalanine hydroxylase, which metabolizes the essential amino acid phenylalanine (Phe) to tyrosine. Consequently, Phe and its byproducts accumulate in the blood and brain of PKU patients, which can have irreparable physical and neurocognitive effects. These may include intellectual disabilities, seizures, eczema, psychosis, and hypopigmentation. To prevent these adverse conditions, early diagnosis and meticulous control of blood Phe levels are required. For optimal metabolic control, the American College of Medical Genetics (ACMG) recommends lifelong maintenance of Phe concentrations within the range of 120-360 μmol/L.
Diet therapy has dramatically improved metabolic control and nutritional status in PKU patients and when adherent to dietary treatment, numerous patients have been able to achieve normal growth and prevent severe cognitive deficits. This, however, is not an easy task given a steep restriction of intact protein is required to keep blood Phe levels within the therapeutic range. To meet nutritional needs in the absence of dietary protein, patients consume large volumes of Phe-free amino acid formulas (medical food) and specialized low-protein modified foods. While this regimen may improve overall diet quality, due to the fortification of formula with vitamins and minerals, the poor palatability and high cost medical food makes diet therapy a significant burden for patients and their families.
Pharmacologic therapies now provide an innovative approach to improve patient health and quality of life by liberalizing the traditional protein-restricted diet. Palynziq is a PEGylated recombinant of phenylalanine lyase, which can lower blood Phe concentrations. Given increasing numbers of PKU patients will be initiating Palynziq therapy, it is essential to prospectively evaluate the impact of this novel treatment on the neurological health, diet quality, and nutritional metabolome of patients when administered in a clinical setting. This knowledge will not only improve the efficacy of the treatment, but will be essential for expanding the current dietary guidelines to meet the unique needs of patients treated with Palynziq.
The objectives of this proposal are to obtain information on the diet quality, neurological health, and nutritional metabolome of patients with PKU at baseline and after intervention with Palynziq. This is a three-year observational study that includes non-pregnant adults who have PKU and have obtained a physician's prescription to initiate Palynziq treatment. Patients who complete the three year study are now eligible to participate in a sub-study which extends the main protocol for up to five years.
- Conditions
- Phenylketonurias
- Being tested
- Palynziq
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PalynziqDrug
Also called Pegvaliase
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.
| Study group | Role | What they receive |
|---|---|---|
| Palynziq Therapy for PKU | Participants with PKU who are starting Palynziq therapy, or have recently started Palynziq therapy but have not achieved response. Receives: Drug: Palynziq |
What is being measured
The primary outcome is the main question the study is designed to answer.
Intra-subject Change in Intact Protein Intake
Intra-subject change in intact protein intake will be assessed by participant-reported 3-day dietary records.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
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.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
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.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Secondary outcomes (22)
Change in Average Intact Protein Intake
Average intact protein intake will be determined by participant-reported 3-day dietary records.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
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.
Measured: Baseline up to Response (up to 60 days)
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).
Measured: Baseline up to 12 Months Post-Response (up to 14 months after baseline)
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.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in Neuro-QOL Sleep Disturbance - Short Form Score
The Neuro-QOL Sleep Disturbance Short Form includes 8 items asking participants about their sleep during the past 7 days. Responses to statements of if sleep problems are occurring are given on a scale from 1 to 5 where 1 = never and 5 = always. 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 sleep problems than the average person.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in The Patient-Reported Outcomes Measurement Information System (PROMIS) Global Health Score
The PROMIS Global Health instrument includes 10 items asking participants about their health and quality of life. Responses to items are given on a scale from 1 to 5 where 1 = poor and 5 = excellent. 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 greater quality of life than the average person.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in PROMIS-29 Anxiety and Depression Score
The PROMIS-29 instrument includes 8 items asking participants about anxiety and depression. Responses to are given on a scale from 1 to 5 where 1 = never and 5 = always. The total summed score from these items ranges from 8 to 40 and higher scores indicate greater anxiety and depression.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in PROMIS Emotional Support Score
The PROMIS Emotional Support instrument includes 16 items asking participants about forms of emotional support they have available. Responses to items are given on a scale from 1 to 5 where 1 = never and 5 = always. Raw 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 has greater emotional support than the average person.
Measured: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in Plasma Neurotransmitters
Intra-subject change in neurotransmitter analysis will be assessed using fasting blood samples.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Change in Plasma Amino Acids
Intra-subject change in plasma amino acids will be assessed using fasting blood samples.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Change in Essential Fatty Acids
Intra-subject change in essential acids will be assessed using fasting blood samples.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Bone Mineral Density
Bone mineral density will be assessed with dual-energy x-ray absorptiometry (DEXA)
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Percent Fat Body Mass
Percent fat body mass will be assessed with DEXA.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Percent Lean Body Mass
Percent lean body mass will be assessed with DEXA.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Resting Energy Expenditure
Resting energy expenditure (kilocalories/day) from Palynziq initiation through 12 months post-response will be assessed using indirect calorimetry and self-reported activity level.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Grip Strength
Muscle strength will be assessed using a dynamometer, which will measure grip strength on each hand.
Measured: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Sub-Study: Change in Plasma Neurotransmitters
Intra-subject change in neurotransmitter analysis will be assessed using fasting blood samples.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: 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.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in Neuro-QOL Sleep Disturbance - Short Form Score
The Neuro-QOL Sleep Disturbance Short Form includes 8 items asking participants about their sleep during the past 7 days. Responses to statements of if sleep problems are occurring are given on a scale from 1 to 5 where 1 = never and 5 = always. 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 sleep problems than the average person.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in The Patient-Reported Outcomes Measurement Information System (PROMIS) Global Health Score
The PROMIS Global Health instrument includes 10 items asking participants about their health and quality of life. Responses to items are given on a scale from 1 to 5 where 1 = poor and 5 = excellent. 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 greater quality of life than the average person.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in PROMIS-29 Anxiety and Depression Score
The PROMIS-29 instrument includes 8 items asking participants about anxiety and depression. Responses to are given on a scale from 1 to 5 where 1 = never and 5 = always. The total summed score from these items ranges from 8 to 40 and higher scores indicate greater anxiety and depression.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in PROMIS Emotional Support Score
The PROMIS Emotional Support instrument includes 16 items asking participants about forms of emotional support they have available. Responses to items are given on a scale from 1 to 5 where 1 = never and 5 = always. Raw 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 has greater emotional support than the average person.
Measured: 12 Months Post-Response through additional five years (6 years post-response)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 May 2020
- Study start8 Oct 2019
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- More trials run by Emory UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Emory University
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Principal investigator, Rani Singh, Emory University
- Investigators
- Rani Singh, PhD, RDN, LD, Principal investigator, Emory University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04404530
- Sponsor's protocol ID
- IRB00111450
- Other IDs
- 2025P011579
- Status last verified
- Jan 2026
- First submitted
- 21 May 2020
- Last updated
- 14 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome
- ClinicalTrials.gov ID
- NCT04404530
- Acronym / sponsor ID
- IRB00111450
- Conditions
- Phenylketonurias
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Emory UniversityUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- 8 Oct 2019 (actual)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 27 May 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Phenylketonuria (PKU) is an autosomal recessive disorder caused by more than 500 pathogenic variants in the phenylalanine hydroxylase (PAH) gene. Due to these mutations, affected individuals have reduced activity or complete deficiency of the enzyme phenylalanine hydroxylase, which metabolizes the essential amino acid phenylalanine (Phe) to tyrosine. Consequently, Phe and its byproducts accumulate in the blood and brain of PKU patients, which can have irreparable physical and neurocognitive effects. These may include intellectual disabilities, seizures, eczema, psychosis, and hypopigmentation. To prevent these adverse conditions, early diagnosis and meticulous control of blood Phe levels are required. For optimal metabolic control, the American College of Medical Genetics (ACMG) recommends lifelong maintenance of Phe concentrations within the range of 120-360 μmol/L.
Diet therapy has dramatically improved metabolic control and nutritional status in PKU patients and when adherent to dietary treatment, numerous patients have been able to achieve normal growth and prevent severe cognitive deficits. This, however, is not an easy task given a steep restriction of intact protein is required to keep blood Phe levels within the therapeutic range. To meet nutritional needs in the absence of dietary protein, patients consume large volumes of Phe-free amino acid formulas (medical food) and specialized low-protein modified foods. While this regimen may improve overall diet quality, due to the fortification of formula with vitamins and minerals, the poor palatability and high cost medical food makes diet therapy a significant burden for patients and their families.
Pharmacologic therapies now provide an innovative approach to improve patient health and quality of life by liberalizing the traditional protein-restricted diet. Palynziq is a PEGylated recombinant of phenylalanine lyase, which can lower blood Phe concentrations. Given increasing numbers of PKU patients will be initiating Palynziq therapy, it is essential to prospectively evaluate the impact of this novel treatment on the neurological health, diet quality, and nutritional metabolome of patients when administered in a clinical setting. This knowledge will not only improve the efficacy of the treatment, but will be essential for expanding the current dietary guidelines to meet the unique needs of patients treated with Palynziq.
The objectives of this proposal are to obtain information on the diet quality, neurological health, and nutritional metabolome of patients with PKU at baseline and after intervention with Palynziq. This is a three-year observational study that includes non-pregnant adults who have PKU and have obtained a physician's prescription to initiate Palynziq treatment. Patients who complete the three year study are now eligible to participate in a sub-study which extends the main protocol for up to five years.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Palynziq Therapy for PKU | – | Drug: PalynziqParticipants with PKU who are starting Palynziq therapy, or have recently started Palynziq therapy but have not achieved response. |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients who have been diagnosed with PKU
Key inclusion criteria (5 listed)
- 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
- Substudy: Participants must have completed visit 2 of the main study
Key exclusion criteria (2 listed)
- unable to provide consent
- a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PalynziqAlso: PegvaliaseParticipants 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. | Drug | Palynziq Therapy for PKU |
Primary outcome
Intra-subject Change in Intact Protein Intake
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject change in intact protein intake will be assessed by participant-reported 3-day dietary records.
Intra-subject Change in Medical Food Protein Intake
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.
Sub study: Intra-subject change in intact protein and medical food protein intake.
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.
22 secondary outcomes
Change in Average Intact Protein Intake
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Days From Palynziq Initiation to Response
Time frame: Baseline up to Response (up to 60 days)
Days From Palynziq Initiation to Consumption of Dietary Reference Intake for Intact Protein
Time frame: Baseline up to 12 Months Post-Response (up to 14 months after baseline)
Change in Neuro-QOL - Cognitive Function - Short Form Score
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in Neuro-QOL Sleep Disturbance - Short Form Score
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in The Patient-Reported Outcomes Measurement Information System (PROMIS) Global Health Score
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in PROMIS-29 Anxiety and Depression Score
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in PROMIS Emotional Support Score
Time frame: Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)
Change in Plasma Neurotransmitters
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Change in Plasma Amino Acids
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Change in Essential Fatty Acids
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Bone Mineral Density
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Percent Fat Body Mass
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Percent Lean Body Mass
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Resting Energy Expenditure
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Intra-subject Change in Grip Strength
Time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)
Sub-Study: Change in Plasma Neurotransmitters
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in Neuro-QOL - Cognitive Function - Short Form Score
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in Neuro-QOL Sleep Disturbance - Short Form Score
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in The Patient-Reported Outcomes Measurement Information System (PROMIS) Global Health Score
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in PROMIS-29 Anxiety and Depression Score
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Sub-Study: Change in PROMIS Emotional Support Score
Time frame: 12 Months Post-Response through additional five years (6 years post-response)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Rani Singh, PhD, RDN, LD principal investigator
Emory University
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by Emory University at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 14 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rani Singh, PhD, RDN, LD (778-404-8519, rsingh@emory.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Intra-subject Change in Intact Protein Intake (time frame: Baseline through 12 Months Post-Response (up to 14 months after baseline)). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2026.