PhenylketonuriaPKUDOSNCT00778206
PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
An observational study of Phenylketonuria and Hyperphenylalaninaemia, run by BioMarin Pharmaceutical at 45 sites in United States.
Trial summary
The objective of this study is to evaluate the safety of long-term treatment with Kuvan. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Phenylketonuria, Hyperphenylalaninaemia
- What is being tested?
- Kuvan
- How many people
- 1,887 participants
- Where
- 45 sitesUnited States
- Study dates
- Sep 2008to 29 Jan 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Diagnosis of Phenylketonuria with hyperphenylalaninemia
Who may be able to join
- Patient has confirmed diagnosis of PKU with hyperphenylalaninemia documented by a Phenylalanine level of greater than or equal to 360 umol/L (6 mg/dL)
- Patient has previously received Kuvan
- Patient is currently receiving Kuvan
- Patient intends to receive Kuvan therapy within 90 days of enrollment into the registry
- The Patient is being followed at a PKUDOS participating center
- Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian
Show all 11Show fewer
- Willing to provide personal health information
- Willing to enroll in (or are already enrolled in) PKUDOS
- Agree to follow the standard of care for pregnant women with PKU in the United States (NIH, 200, NIH Consensus Statement)
- Agree to be followed by a hospital or PKU clinic offering the standard of care for maternal PKU
- Are within 10 weeks of their last menstrual period
Who cannot join
- Patients are not eligible to participate in PKUDOS if they are participating in a BioMarin-sponsored clinical study of Kuvan
- Patients not previously treated with Kuvan and patients that are unwilling to begin Kuvan therapy within 90 days of entry into the registry
- PKU MOMS Subregistry
- Patients who have not adhered to the standard of care for pregnant women with PKU in the United States are not eligible to participate in PKU MOMS
Trial locations and contacts
45 sites in 1 country.
45 sites in 1 country
United States45 sites
Akron Children's Hospital
Akron, Ohio, 44308
Albany Medical Center
Albany, New York, 12208
Children's Hospital, University of Colorado School of Medicine
Aurora, Colorado, 80045
Johns Hopkins University School of Medicine
Baltimore, Maryland, 21287
Children's Hosptial of Boston
Boston, Massachusetts, 02115
University of North Carolina
Chapel Hill, North Carolina, 27599
Ann and Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
University of Missouri Health Care
Columbia, Missouri, 65212
Nationwide Children's Hospital
Columbus, Ohio, 43205
Emory University
Decatur, Georgia, 30033
University of Florida
Gainesville, Florida, 32611
Greenwood Genetic Center
Greenwood, South Carolina, 29646
Penn State, Milton S. Hershey Medical Center
Hershey, Pennsylvania, 17033
Indiana University School of Medicine
Indianapolis, Indiana, 46202
University of Iowa
Iowa City, Iowa, 52242
University of Kentucky
Lexington, Kentucky, 40536
Childrens Hospital of Los Angeles
Los Angeles, California, 90027
LAC and USC Medical Center
Los Angeles, California, 90033
UCLA
Los Angeles, California, 90095
Kosair Charities Pediatric Clinical Research Unit
Louisville, Kentucky, 40202
University of Miami, Miller School of Medicine, Department of Human Genetics
Miami, Florida, 33136
Children's Hospital of Wisconsin
Milwaukee, Wisconsin, 53226
University of Minnesota
Minneapolis, Minnesota, 55455
West Virginia Genetics Center, Department of Pediatrics
Morgantown, West Virginia, 26506
AHS Hospital Corp
Morristown, New Jersey, 07960
Tulane University Medical School
New Orleans, Louisiana, 70112
Children's Hospital of the King's Daughters
Norfolk, Virginia, 23507
University of Oklahoma
Oklahoma City, Oklahoma, 73104
University of Nebraska
Omaha, Nebraska, 68182
Children's Hospital of Orange County
Orange, California, 92868
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
St. Christophers Hospital for Children
Philadelphia, Pennsylvania, 19134
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Oregon Health and Science University
Portland, Oregon, 97239
University of Rochester Medical Center
Rochester, New York, 14642
University of Utah
Salt Lake City, Utah, 84132
University of California, San Diego
San Diego, California, 92093
Sanford Children's Specialty Clinic
Sioux Falls, South Dakota, 57117
St. Louis Children's Hospital
St Louis, Missouri, 63110
Stanford University, Pediatrics
Stanford, California, 94305
University of South Florida
Tampa, Florida, 33606
Tampa Children's Hospital, St. Joseph's Pediatric Endocrine Associates
Tampa, Florida, 33607
Westchester Medical Center
Valhalla, New York, 10595
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Wesley Pediatric Faculty Clinic
Wichita, Kansas, 67208
About this study
The objective of this study is to evaluate the safety of long-term treatment with Kuvan.
Read the detailed description
The PKUDOS program is a voluntary, multicenter, strictly observational program for patients with PKU who have either received Kuvan therapy, or currently receive Kuvan, or intend to begin receiving Kuvan therapy within 90 days of entering the registry.
- Conditions
- Phenylketonuria, Hyperphenylalaninaemia
- Being tested
- Kuvan
- Keywords
- Phenylketonuria, Hyperphenylalaninemia, PKU, Phenylalanine
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
KuvanDrug
Also called sapropterin dihydrochloride
-Recommended post-partum Assessments include: collection of baby's plasma at Birth, 1 Month and 6 months, and collection of mother's plasma and expressed breast milk sample at 1 Month.
| Study group | Role | What they receive |
|---|---|---|
| 1. PKUDOS Registry | Patients with a confirmed diagnosis of Phenylketonuria (PKU) with hyperphenylalaninemia who have either received Kuvan therapy, or currently receive Kuvan therapy, or intend to begin receiving Kuvan therapy within 90 days of entering the registry. | |
| 2. PKU MOMS Subregistry | Patients with PKU who are pregnant at enrollment in the registry or who become pregnant while participating in the registry. Receives: Drug: Kuvan |
What is being measured
The primary outcome is the main question the study is designed to answer.
Observational Data Only
Registry data including demographic and baseline characteristics
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Oct 2008 (estimated)
- Study startSep 2008
- Primary completion29 Jan 2021
- Study completion29 Jan 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe 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
- 1,887 participants (actual)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Kristin Lindstrom, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00778206
- Sponsor's protocol ID
- PKUDOS-01
- Other IDs
- PKUDOS Registry
- Acronym
- PKUDOS
- Status last verified
- Sep 2022
- First submitted
- 21 Oct 2008
- Last updated
- 12 Oct 2022
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Oct 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
- ClinicalTrials.gov ID
- NCT00778206
- Acronym / sponsor ID
- PKUDOS / PKUDOS-01
- Conditions
- Phenylketonuria, Hyperphenylalaninaemia
- Keywords
- Phenylketonuria, Hyperphenylalaninemia, PKU, Phenylalanine
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,887 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- Sep 2008
- Primary completion
- 29 Jan 2021 (actual)
- Study completion
- 29 Jan 2021 (actual)
- First posted
- 23 Oct 2008 (estimated)
- 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.
The objective of this study is to evaluate the safety of long-term treatment with Kuvan.
Detailed description
The PKUDOS program is a voluntary, multicenter, strictly observational program for patients with PKU who have either received Kuvan therapy, or currently receive Kuvan, or intend to begin receiving Kuvan therapy within 90 days of entering the registry.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1. PKUDOS Registry | – | –Patients with a confirmed diagnosis of Phenylketonuria (PKU) with hyperphenylalaninemia who have either received Kuvan therapy, or currently receive Kuvan therapy, or intend to begin receiving Kuvan therapy within 90 days of entering the registry. |
| 2. PKU MOMS Subregistry | – | Drug: KuvanPatients with PKU who are pregnant at enrollment in the registry or who become pregnant while participating in the registry. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Diagnosis of Phenylketonuria with hyperphenylalaninemia
Key inclusion criteria (11 listed)
- Patient has confirmed diagnosis of PKU with hyperphenylalaninemia documented by a Phenylalanine level of greater than or equal to 360 umol/L (6 mg/dL)
- Patient has previously received Kuvan
- Patient is currently receiving Kuvan
- Patient intends to receive Kuvan therapy within 90 days of enrollment into the registry
- The Patient is being followed at a PKUDOS participating center
Key exclusion criteria (4 listed)
- Patients are not eligible to participate in PKUDOS if they are participating in a BioMarin-sponsored clinical study of Kuvan
- Patients not previously treated with Kuvan and patients that are unwilling to begin Kuvan therapy within 90 days of entry into the registry
- PKU MOMS Subregistry
- Patients who have not adhered to the standard of care for pregnant women with PKU in the United States are not eligible to participate in PKU MOMS
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 |
|---|---|---|
| KuvanAlso: sapropterin dihydrochloride-Recommended post-partum Assessments include: collection of baby's plasma at Birth, 1 Month and 6 months, and collection of mother's plasma and expressed breast milk sample at 1 Month. | Drug | 2. PKU MOMS Subregistry |
Primary outcome
Observational Data Only
Time frame: 15 years
Registry data including demographic and baseline characteristics
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Oct 2022.
Related trials for Phenylketonuria
RecruitingPhase 1
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
Phenylketonuria
RecruitingPhase 2
A Study of MZE782 in Adults With PKU
Phenylketonuria (PKU)
RecruitingPhase 3
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Phenylketonuria
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
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.
Kristin Lindstrom, MD study director
BioMarin Pharmaceutical
45 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria and Hyperphenylalaninaemia, run by BioMarin Pharmaceutical at 45 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 11 inclusion and 4 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 12 Oct 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 45 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Observational Data Only (time frame: 15 years). 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 12 Oct 2022.