Study of a National Cohort of Adult Patients With Phenylketonuria

Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adolescence. Unlike other countries, in France there are no recommendations for a plan "for life". Knowledge about the natural history of PKU in adulthood, the effects of pediatric age, the frequency of complicated shapes, and prognostic factors are poorly documented. On the other hand, there is no consensus on the therapeutic management of this disease in adulthood and monitoring that could be directed towards the detection of neurological disorders and nutrition. Social integration and quality of life of adults PKU patients living in France have not been studied.

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Key information

Conditions

PKU Amino Acid Metabolism, Inborn Errors Bone Diseases Bone Diseases, Metabolic Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hyperphenylalaninemia Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Diseases Nervous System Diseases Nutritional and Metabolic Diseases Osteoporosis Phenylketonurias

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition, Tours, Centre-Val de Loire, France

About this study

The aim off this study is to follow a French cohort of young adult patients with PKU to:

Describe the evolution of the disease in adulthood and neurological complications associated neuropsychological detect, investigate the prognostic factors for complications
Describe the metabolic balance of patients
Collect data on nutritional status,
Detect osteoporosis
Studying social integration and quality of life of adult patients with PKU
Collect biological samples for further study (markers of bone turnover)

Design:

Cohort :

Duration of the inclusion period: 2 years Duration of subject participation: 5 years Total duration of the study: 7 years

JUDGING CRITERIA:

Complications associated with PKU in adult
Evolution of neuropsychometric scores
Bone mineral density by densitometry
Measuring the quality of life of patients

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patient age ≥ 18 years
Phenylketonuria (PKU) or moderate persistent Hyperphenylalaninemia (HMP) diagnosed by neonatal screening
Reading and signing an informed consent
Membership of a social security system

Exclusion criteria

History of severe neurological definite diagnosis could interfere with the detection of neurological disorders associated with PKU

Treatment and study plan

Primary outcomes

Evaluate a possible cognitive decline and incidence of neurological complications

Time frame: 5 years

Secondary outcomes

Determine the prognostic factors of neurological complications

Time frame: 5 years

Determine the prognostic factors of these complications, and the impact of the disease and its management on the quality of life (SF-36) and social and professional integration of patients.

Sponsors and collaborators

Lead sponsor

University Hospital, Tours

Other

Collaborators

Institut National de la Santé Et de la Recherche Médicale, France

Registry information

Acronym: ECOPHEN

Important dates

Study start: 2012
Primary completion: 2020
Study completion: 2020
First posted: Jun 14, 2012
Registry last updated: May 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed