PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Sponsor

BioMarin Pharmaceutical (Industry)

Overall Status

Completed

CT.gov ID

NCT00778206

Collaborator

(none)

1,887

Enrollment

Locations

148.9

Duration (Months)

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The objective of this study is to evaluate the safety of long-term treatment with Kuvan.

Condition or Disease	Intervention/Treatment	Phase
Phenylketonuria Hyperphenylalaninaemia	Drug: 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

Study Type:

Observational

Actual Enrollment :

1887 participants

Observational Model:

Case-Only

Time Perspective:

Prospective

Official Title:

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Study Start Date :

Sep 1, 2008

Actual Primary Completion Date :

Jan 29, 2021

Actual Study Completion Date :

Jan 29, 2021

Arms and Interventions

Arm	Intervention/Treatment
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.	Drug: Kuvan -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. Other Names: sapropterin dihydrochloride

Arm

Intervention/Treatment

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.

Drug: Kuvan

-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.

Other Names:

sapropterin dihydrochloride

Outcome Measures

Primary Outcome Measures

Observational Data Only [15 years]
Registry data including demographic and baseline characteristics

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

PKUDOS Registry

Inclusion Criteria:

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
Willing to provide personal health information

Exclusion Criteria:

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

Inclusion Criteria:

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

Exclusion Criteria:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Childrens Hospital of Los Angeles	Los Angeles	California	United States	90027
2	LAC and USC Medical Center	Los Angeles	California	United States	90033
3	UCLA	Los Angeles	California	United States	90095
4	Children's Hospital of Orange County	Orange	California	United States	92868
5	University of California, San Diego	San Diego	California	United States	92093
6	Stanford University, Pediatrics	Stanford	California	United States	94305
7	Children's Hospital, University of Colorado School of Medicine	Aurora	Colorado	United States	80045
8	Children's National Medical Center	Washington	District of Columbia	United States	20010
9	University of Florida	Gainesville	Florida	United States	32611
10	University of Miami, Miller School of Medicine, Department of Human Genetics	Miami	Florida	United States	33136
11	University of South Florida	Tampa	Florida	United States	33606
12	Tampa Children's Hospital, St. Joseph's Pediatric Endocrine Associates	Tampa	Florida	United States	33607
13	Emory University	Decatur	Georgia	United States	30033
14	Ann and Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois	United States	60611
15	Indiana University School of Medicine	Indianapolis	Indiana	United States	46202
16	University of Iowa	Iowa City	Iowa	United States	52242
17	Wesley Pediatric Faculty Clinic	Wichita	Kansas	United States	67208
18	University of Kentucky	Lexington	Kentucky	United States	40536
19	Kosair Charities Pediatric Clinical Research Unit	Louisville	Kentucky	United States	40202
20	Tulane University Medical School	New Orleans	Louisiana	United States	70112
21	Johns Hopkins University School of Medicine	Baltimore	Maryland	United States	21287
22	Children's Hosptial of Boston	Boston	Massachusetts	United States	02115
23	University of Minnesota	Minneapolis	Minnesota	United States	55455
24	University of Missouri Health Care	Columbia	Missouri	United States	65212
25	Children's Mercy Hospital Genetics	Kansas City	Missouri	United States	64123
26	St. Louis Children's Hospital	Saint Louis	Missouri	United States	63110
27	University of Nebraska	Omaha	Nebraska	United States	68182
28	AHS Hospital Corp	Morristown	New Jersey	United States	07960
29	Albany Medical Center	Albany	New York	United States	12208
30	University of Rochester Medical Center	Rochester	New York	United States	14642
31	Westchester Medical Center	Valhalla	New York	United States	10595
32	University of North Carolina	Chapel Hill	North Carolina	United States	27599
33	Akron Children's Hospital	Akron	Ohio	United States	44308
34	Nationwide Children's Hospital	Columbus	Ohio	United States	43205
35	University of Oklahoma	Oklahoma City	Oklahoma	United States	73104
36	Oregon Health and Science University	Portland	Oregon	United States	97239
37	Penn State, Milton S. Hershey Medical Center	Hershey	Pennsylvania	United States	17033
38	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
39	St. Christophers Hospital for Children	Philadelphia	Pennsylvania	United States	19134
40	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania	United States	15224
41	Greenwood Genetic Center	Greenwood	South Carolina	United States	29646
42	Sanford Children's Specialty Clinic	Sioux Falls	South Dakota	United States	57117
43	University of Utah	Salt Lake City	Utah	United States	84132
44	Children's Hospital of the King's Daughters	Norfolk	Virginia	United States	23507
45	West Virginia Genetics Center, Department of Pediatrics	Morgantown	West Virginia	United States	26506
46	Children's Hospital of Wisconsin	Milwaukee	Wisconsin	United States	53226