PhenylketonuriaNCT01917344
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
A study testing MRI in people with Phenylketonuria, run by Boston Children's Hospital at 1 site in United States.
Trial summary
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Phenylketonuria
- What is being tested?
- MRI
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2013to Jun 2014
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
- Age 18-55 years
- Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)
- Capable of providing informed consent
- Able to undergo MRI procedures without sedating medication
- Does not have metal implants
- Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.
- -
Who cannot join
- Mild PKU or mild hyperphenylalaninemia
- Less than 18 years old or great than 55 years old
- No medical records available for the first 6 years of life
- No record of genotype
- Not capable of providing informed consent
- Not able to undergo MRI without sedating medication
Show all 9Show fewer
- Has metal implants
- Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial
- -
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.
- Conditions
- Phenylketonuria
- Being tested
- MRI
- Keywords
- Phenylketonuria, MRI, Neuropsychological functioning, Neurological functioning, EEG
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRIOther
| Study group | Role | What they receive |
|---|---|---|
| Adults with PKU | Other | MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination. These activities were performed for the study, but no drug or other interventions took place. Receives: Other: MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.
Measured: During period of evaluation, approximately 8 hours
Secondary outcomes (5)
Full Scale Intelligence Quotient (IQ)
Measured: During period of evaluation, approximately 8 hours
Electroencephalogram (EEG) Findings
Measured: During period of evaluation, approximately 8 hours
Volumetric MRI Findings
Measured: During period of evaluation, approximately 8 hours
Diffusion Tensor Imaging (DTI) Findings Through MRI
Measured: During period of evaluation, approximately 8 hours
Tremor as Determined Through Neurological Evaluation
Measured: During period of evaluation, approximately 8 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2013 (estimated)
- Study startAug 2013
- Primary completionJun 2014
- Study completionJun 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Beth Israel Deaconess Medical Center, Brigham and Women's Hospital
- Responsible party
- Principal investigator, Susan Waisbren, Boston Children's Hospital
- Investigators
- Susan E Waisbren, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01917344
- Sponsor's protocol ID
- IRB-P00003864
- Status last verified
- Jun 2015
- First submitted
- 5 Aug 2013
- Last updated
- 19 Jun 2015
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jun 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
- ClinicalTrials.gov ID
- NCT01917344
- Acronym / sponsor ID
- IRB-P00003864
- Conditions
- Phenylketonuria
- Keywords
- Phenylketonuria, MRI, Neuropsychological functioning, Neurological functioning, EEG
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Beth Israel Deaconess Medical Center, Brigham and Women's Hospital
- Study start
- Aug 2013
- Primary completion
- Jun 2014 (actual)
- Study completion
- Jun 2014 (actual)
- First posted
- 6 Aug 2013 (estimated)
- Results
- Posted 19 Jun 2015
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adults with PKU | Other | Other: MRIMRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination. These activities were performed for the study, but no drug or other interventions took place. |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (8 listed)
- Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
- Age 18-55 years
- Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)
- Capable of providing informed consent
- Able to undergo MRI procedures without sedating medication
Key exclusion criteria (9 listed)
- Mild PKU or mild hyperphenylalaninemia
- Less than 18 years old or great than 55 years old
- No medical records available for the first 6 years of life
- No record of genotype
- Not capable of providing informed consent
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 |
|---|---|---|
| MRI | Other | Adults with PKU |
Primary outcome
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
Time frame: During period of evaluation, approximately 8 hours
Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.
5 secondary outcomes
Full Scale Intelligence Quotient (IQ)
Time frame: During period of evaluation, approximately 8 hours
Electroencephalogram (EEG) Findings
Time frame: During period of evaluation, approximately 8 hours
Volumetric MRI Findings
Time frame: During period of evaluation, approximately 8 hours
Diffusion Tensor Imaging (DTI) Findings Through MRI
Time frame: During period of evaluation, approximately 8 hours
Tremor as Determined Through Neurological Evaluation
Time frame: During period of evaluation, approximately 8 hours
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jun 2015.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Phenylketonuria
RecruitingPhase 3
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Phenylketonuria
RecruitingPhase 2
A Study of MZE782 in Adults With PKU
Phenylketonuria (PKU)
Recruiting
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Carrier of Phenylketonuria, Healthy
RecruitingPhase 3
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
Phenylketonuria
Not yet recruiting
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
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. This study is not recruiting at the moment.
Susan E Waisbren, PhD principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing MRI in people with Phenylketonuria, run by Boston Children's Hospital at 1 site 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 8 inclusion and 9 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: finished, as of the sponsor's last update on 19 Jun 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Yes. Results are posted in the registry (first posted 19 Jun 2015). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood (time frame: During period of evaluation, approximately 8 hours). 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 19 Jun 2015.