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

Completed

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

Brief Summary: 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.

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.

Recruitment & Eligibility

Inclusion Criteria

Adult or pediatric subject (no age limit) of either gender with HPA due to PKU or 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.

Exclusion Criteria

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

Primary Outcome Measures

Name	Time	Method
Incidence and description of Adverse Events and Serious Adverse Events (AEs/SAEs)	A maximum of 15 years treatment duration.

Secondary Outcome Measures

Name	Time	Method
Long-term sensitivity to Kuvan® treatment	A maximum of 15 years treatment duration.
Blood Phe levels	A maximum of 15 years treatment duration.
Description on somatic growth (in BH4 deficient children < 3 years)	A maximum of 15 years treatment duration.
Neurological and psychiatric assessment	A maximum of 15 years treatment duration.
Incidence of AEs/SAEs in specific population (elderly, children, subjects with renal or hepatic insufficiency)	A maximum of 15 years treatment duration.
Neurocognitive outcomes	A maximum of 15 years treatment duration.
Diet and Kuvan® treatment adherence	A maximum of 15 years treatment duration.
Tyrosine (Tyr) levels	A maximum of 15 years treatment duration.
Pregnancy and delivery outcomes	A maximum of 15 years treatment duration.

Locations (5): Research Site - Armand Trousseau
🇫🇷
Paris, France
Research Site - Ospedale Annunziata
🇮🇹
Napoli, Italy
Research Site - Necker
🇫🇷
Paris, France
Research Site - Policlinico Federico
🇮🇹
Napoli, Italy
Research Site
🇸🇪
Uppsala, Sweden

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