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| Name | Class |
|---|---|
| Beth Israel Deaconess Medical Center | OTHER |
| Brigham and Women's Hospital | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MRI | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | During period of evaluation, approximately 8 hours |
| Measure | Description | Time Frame |
|---|---|---|
| Full Scale Intelligence Quotient (IQ) | During period of evaluation, approximately 8 hours | |
| Electroencephalogram (EEG) Findings | During period of evaluation, approximately 8 hours | |
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Inclusion Criteria:
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.
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Exclusion Criteria:
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
Has metal implants
Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial
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| Name | Affiliation | Role |
|---|---|---|
| Susan E Waisbren, PhD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Boston | Massachusetts | 02115 | United States |
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A recruitment letter was sent to adults with PKU who were not enrolled in another clinical trial.
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| ID | Title | Description |
|---|---|---|
| FG000 | Adults With PKU | MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI |
| Title | Milestones | Reasons Not Completed | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
Adults (ages 18 and older) with phenylketonuria (PKU)
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| ID | Title | Description |
|---|---|---|
| BG000 | Adults With PKU | MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Brain and Blood Phenylalanine |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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. | Posted | Mean | Standard Deviation | umol/L | During period of evaluation, approximately 8 hours |
|
|
Two years.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Adults With PKU | MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Susan Waisbren, P.h.D | Boston Children's Hospital | 617-355-7346 | susan.waisbren@childrens.harvard.edu |
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| ID | Term |
|---|---|
| D010661 | Phenylketonurias |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| Volumetric MRI Findings |
| During period of evaluation, approximately 8 hours |
| Diffusion Tensor Imaging (DTI) Findings Through MRI | During period of evaluation, approximately 8 hours |
| Tremor as Determined Through Neurological Evaluation | During period of evaluation, approximately 8 hours |
| Count of Participants |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
|
| Secondary | Full Scale Intelligence Quotient (IQ) | Not Posted | During period of evaluation, approximately 8 hours |
| Secondary | Electroencephalogram (EEG) Findings | Not Posted | During period of evaluation, approximately 8 hours |
| Secondary | Volumetric MRI Findings | Not Posted | During period of evaluation, approximately 8 hours |
| Secondary | Diffusion Tensor Imaging (DTI) Findings Through MRI | Not Posted | During period of evaluation, approximately 8 hours |
| Secondary | Tremor as Determined Through Neurological Evaluation | Not Posted | During period of evaluation, approximately 8 hours |
| 0 |
| 10 |
| 0 |
| 10 |
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| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |