Trial record 2 of 4 for:    "Tetrahydrobiopterin deficiency"

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by Merck KGaA
Sponsor:
Information provided by (Responsible Party):
Merck KGaA
ClinicalTrials.gov Identifier:
NCT01016392
First received: November 18, 2009
Last updated: August 12, 2014
Last verified: August 2014
  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:


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: December 2009
Estimated Study Completion Date: December 2024
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 Summary of Product Characteristics [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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

Contacts
Contact: Merck KGaA Communication Center +49-6151-75-5200 service@merckgroup.com

  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
Study First Received: November 18, 2009
Last Updated: August 12, 2014
Health Authority: European Union: European Medicines Agency

Keywords provided by Merck KGaA:
Observational post-authorization safety study on Kuvan®.

Additional relevant MeSH terms:
Phenylketonurias
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases

ClinicalTrials.gov processed this record on October 23, 2014