Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency - Full Text View

Purpose

Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.

Kuvan® received marketed authorisation in Europe in December 2008 and is now available in several European countries for the treatment of Hyperphenylalaninemia (HPA).

The primary objective is to assess the long-term safety in subjects treated with Kuvan®.

Secondary objectives are to provide additional information regarding:

Safety in specific subject groups (elderly, pediatric, pregnant women and subjects with renal or hepatic insufficiency).
Growth and neurocognitive outcomes for subjects with hyperphenylalaninemia (HPA) who are receiving treatment with Kuvan®.
Progress and outcome of pregnancy for women with HPA who become pregnant while receiving treatment with Kuvan® (these women will be enrolled in a dedicated sub-registry).
Assessment of adherence to diet and to Kuvan®.
Assessment of long-term sensitivity to Kuvan®treatment.

Condition
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency

Study Type:	Observational
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Official Title:	Kuvan® Adult Maternal Pediatric European Registry

Resource links provided by NLM:

Genetics Home Reference related topics: argininosuccinic aciduria citrullinemia N-acetylglutamate synthase deficiency ornithine translocase deficiency phenylketonuria succinic semialdehyde dehydrogenase deficiency tetrahydrobiopterin deficiency

MedlinePlus related topics: Phenylketonuria

Drug Information available for: Sapropterin

U.S. FDA Resources

Further study details as provided by Merck KGaA:

Primary Outcome Measures:

Incidence and description of Adverse Events and Serious Adverse Events (AEs/SAEs) [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

Incidence of AEs/SAEs in specific population (elderly, children, subjects with renal or hepatic insufficiency) [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Description on somatic growth (in BH4 deficient children < 3 years) [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Neurocognitive outcomes [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Neurological and psychiatric assessment [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Diet and Kuvan® treatment adherence [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Long-term sensitivity to Kuvan® treatment [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Blood Phe levels [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Tyrosine (Tyr) levels [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]
Pregnancy and delivery outcomes [ Time Frame: A maximum of 15 years treatment duration. ] [ Designated as safety issue: No ]

Estimated Enrollment:	625
Study Start Date:	November 2009
Estimated Primary Completion Date:	December 2024 (Final data collection date for primary outcome measure)

Detailed Description:

This is an observational, multicenter, drug registry Study. The study will have a total duration of 15 years, including a 10-year inclusion period. No diagnostic, therapeutic or experimental intervention is involved. Subjects will receive clinical assessments, medications and treatments solely as determined by their study physician.

Eligibility

Ages Eligible for Study:	4 Years and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

All subjects with HPA due to PKU or BH4 deficiency followed at participating centres.

And specific groups (elderly, pediatric, pregnant women and subjects with renal or hepatic insufficiency).

Criteria

Inclusion Criteria:

• Adult or pediatric subject (4 years old or older) of either gender with HPA due to PKU.

Or

Adult or pediatric subject (no lower limit of age) of either gender with HPA due to BH4 deficiency
Have been shown to be responsive to BH4 or Kuvan. (Note: For Spain only-Have been shown to be responsive to BH4 or for the newly diagnosed subjects to be responsive to Kuvan as defined in the SmPC)
Currently being treated with Kuvan® at a participating centre
Subject or parent/legal guardian willing and able to provide written signed informed consent and given before any data collection. If a child is old enough to read and write, a separate assent form will be given
Have been shown to be responsive to BH4 or for the newly diagnosed subjects fo be responsive to Kuvan as defined in the SmPC

Exclusion Criteria:

Known hypersensitivity to Kuvan®
Legal incapacity or limited legal capacity without legal guardian representation
Breast-feeding

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01016392

Contacts

Contact: Merck Communications Service

+49-6151-75-5200

service@merck.de

Show 74 Study Locations

Sponsors and Collaborators

Merck KGaA

Investigators

Study Director:

Study Director

Merck Serono S.A., Geneva

More Information

No publications provided

Responsible Party:	Merck KGaA
ClinicalTrials.gov Identifier:	NCT01016392 History of Changes
Other Study ID Numbers:	EMR700773-001, EudraCT: 2009-015769-29
Study First Received:	November 18, 2009
Last Updated:	March 8, 2013
Health Authority:	European Union: European Medicines Agency

Keywords provided by Merck KGaA:

Observational post-authorization safety study on Kuvan®.

Additional relevant MeSH terms:

Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases

Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on May 22, 2013

Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency (KAMPER)