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PKUECOPHENNCT01619722

Study of a National Cohort of Adult Patients With Phenylketonuria

An observational study of PKU and Hyperphenylalaninemia, run by University Hospital, Tours at 16 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

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. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
PKU, Hyperphenylalaninemia
How many people
220 participants
Where
16 sitesFrance
Study dates
15 Mar 2012to 6 Jul 2020
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: All adult patients with PKU during a consultation in Hospital care centers.

Who may be able to join

  • 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

Who cannot join

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

Trial locations and contacts

16 sites in 1 country.

16 sites in 1 country

France16 sites

  • CHU-ANGERS -Médecine Interne

    Angers, 49933

  • CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque

    Bordeaux, 33000

  • CHU du Morvan-Département de Pédiatrie et génétique médicale,

    Brest, 29609

  • Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon

    Bron, 69677

  • CHU de Dijon--Hôpital des Enfants-Centre de Génétique

    Dijon, 21079

  • CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale

    Grenoble, 38043

  • CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie

    Lille, 59037

  • APHM-Hôpital de la Conception -Médecine Interne

    Marseille, 13005

  • CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme

    Nantes, 44000

  • Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie

    Paris, 75743

  • CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique

    Rennes, 35203

  • CHU de Rouen-Service de Pédiatrie

    Rouen, 76031

  • CHU de St Etienne-Hôpital Nord-Service de Pédiatrie

    Saint-Etienne, 42055

  • CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne

    Toulouse, 31059

  • CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition

    Tours, Centre-Val de Loire, 37044

  • University Hospital of NANCY

    Vandœuvre-lès-Nancy, 54500

Other trials in France

About this study

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.

Read the detailed description

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
Keywords
PKU, Osteoporosis, HMP, Life quality, Neuropsychological, Nutritial evaluation, Phenylketonuria, Hyperphenylalaninemia
Medical subject headings
Phenylketonurias, Osteoporosis

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Evaluate a possible cognitive decline and incidence of neurological complications

    Measured: 5 years

Secondary outcomes (1)

  1. Determine the prognostic factors of neurological complications

    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.

    Measured: 5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted14 Jun 2012 (estimated)
  2. Study start15 Mar 2012
  3. Primary completion15 Feb 2020
  4. Study completion6 Jul 2020

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
220 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01619722
Sponsor's protocol ID
PHRN10/FM-ECOPHEN
Acronym
ECOPHEN
Status last verified
May 2026
First submitted
12 Jun 2012
Last updated
26 May 2026
Results posted
No
Data monitoring committee
Yes

Publications

  • Dybal E, Maillot F, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin-Robinet C, Leguy-Seguin V, Douillard C, Charriere S. Bone mineral density in French adults with early-treated phenylketonuria. Mol Genet Metab. 2025 Mar;144(3):109044. doi: 10.1016/j.ymgme.2025.109044. Epub 2025 Jan 27.

    PubMed 39919675

  • Brachet M, Charriere S, Douillard C, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin-Robinet C, Leguy-Seguin V, Gissot V, Maillot F. Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study. J Neurol. 2024 Dec 12;272(1):53. doi: 10.1007/s00415-024-12840-0.

    PubMed 39666084

  • Giret C, Charriere S, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin C, Leguy-Seguin V, Levesque H, Sacaze E, Besson G, Thoreau B, Le Gouge A, Gissot V, Douillard C, Maillot F. Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study. Mol Genet Metab. 2026 Jan;147(1):109706. doi: 10.1016/j.ymgme.2025.109706. Epub 2025 Dec 16.

    PubMed 41421263

Questions about this trial

What is this clinical trial studying?

An observational study of PKU and Hyperphenylalaninemia, run by University Hospital, Tours at 16 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 26 May 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 16 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Evaluate a possible cognitive decline and incidence of neurological complications (time frame: 5 years). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01619722, which also lists 3 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 May 2026.

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