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Global registry launches to unlock secrets of rare blood disorder

NCT ID NCT03481738

Knowledge-focused Sponsor: Agios Pharmaceuticals, Inc. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Aug 28, 2026 · Updated 5 times

Summary

This study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drugs or procedures are being tested—this is purely an information-gathering effort to improve future care.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this registry could provide crucial insights into how PK deficiency progresses and how best to manage it, potentially guiding future treatments.
What could go wrong
This is an observational study, not a treatment trial. It collects data only, so it won't directly improve health. Results depend on consistent data reporting and may take years to yield meaningful conclusions.
Why investors are watching

Agios Pharmaceuticals is running a global registry that will follow 500 people with pyruvate kinase deficiency, a rare inherited blood disorder, for up to 9 years. This registry does not test a drug, but it collects real-world data on how the disease progresses and how patients are treated. For a small company whose main product targets this same disease, this data could help shape future drug development and support regulatory discussions.

If it works: A well-run registry could give Agios a deeper understanding of the disease's natural history, which may help design better clinical trials or strengthen evidence for its existing treatment. It could also position the company as a leader in the PK deficiency field.

If it fails: The registry is observational and has no treatment endpoint, so it may produce no direct commercial result. If enrollment is slow or data quality is poor, the registry could fail to deliver useful insights, and the company would have spent years and resources without a clear payoff.

AI-written from the trial record. Speculative, and not investment advice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

500 people

The number who actually took part.

Started

Apr 2018

Expected to finish

May 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll; * Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations. For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency; * The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent. E-consent or remote consent may be utilized where permissible as applicable if country regulations and site policies allow.

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Conditions

The condition(s) this trial relates to.

congenital nonspherocytic hemolytic anemia pyruvate kinase deficiency of red cells

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Pyruvate kinase deficiency

Contacts and locations

Locations

  • AOU dell'Universita degli Studi della Campania Luigi Vanvitelli

    Naples, Campania, Italy

  • Arkansas Children's Hospital

    Little Rock, Arkansas, 72202, United States

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • Centre Hospitalier Universitaire Vaudois

    Lausanne, CH 1011, Switzerland

  • Centro Hospitalar E Universitario de Coimbra EPE

    Coimbra, 3041-853, Portugal

  • Centro Hospitalar Lisboa Central- Hospital Dona Estefania

    Lisbon, 1169-045, Portugal

  • Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E

    Porto, 4200-072, Portugal

  • Charite - Universitatsmedizin Berlin

    Berlin, 13353, Germany

  • Children's Healthcare of Atlanta

    Atlanta, Georgia, 30342, United States

  • Children's Hospital of Michigan

    Detroit, Michigan, 48201, United States

  • Children's Hospital of Orange County

    Orange, California, 92868, United States

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Copenhagen University Hospital

    Herlev, 2730, Denmark

  • Duke University Medical Center

    Durham, North Carolina, 27710, United States

  • E O Ospedali Galliera

    Genoa, Liguria, 16128, Italy

  • Evangelisches Krankenhaus Bielefeld gGmbH

    Bielefeld, 33617, Germany

  • Fakultni nemocnice Olomouc

    Olomouc, 779 00, Czechia

  • Fakultni nemocnice v Motole

    Prague, 150 06, Czechia

  • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

    Milan, 20122, Italy

  • Hacettepe University Medical Faculty

    Ankara, Turkey (Türkiye)

  • Hammersmith Hospital

    London, London, City of, W12 0HS, United Kingdom

  • Hopital Necker

    Paris, 75743, France

  • Hospital Infantil Universitario Nino Jesus

    Madrid, 28009, Spain

  • Hospital Sant Joan de Deu - PIN

    Esplugues de Llobregat, Barcelona, 08950, Spain

  • Hospital Universitario Germans Trias i Pujol

    Badalona, Barcelona, 08916, Spain

  • Hospital Universitario La Paz

    Madrid, 28046, Spain

  • Hospital Universitario Vall d'Hebron - PPDS

    Barcelona, 08035, Spain

  • Hospital de La Santa Creu i Sant Pau

    Barcelona, 8041, Spain

  • Hospital de Tortosa Verge de la Cinta

    Tortosa, 43500, Spain

  • Kinder- und Jugendarztpraxis

    Munich, 81377, Germany

  • Kings College Hospital

    London, SE5 9RS, United Kingdom

  • Massachusetts General Hospital

    Boston, Massachusetts, 02114, United States

  • Ospedale S Eugenio

    Roma, 144, Italy

  • Phoenix Childrens Hospital

    Phoenix, Arizona, 85016, United States

  • Presidio Ospedaliero di Pescara

    Pescara, Abruzzo, 65125, Italy

  • Primary Children's Hospital

    Salt Lake City, Utah, 84113, United States

  • Saint Josephs Healthcare System

    Hamilton, Ontario, L8N 4A6, Canada

  • Siriraj Hospital Mahidol University

    Bangkok, Thailand

  • St James's Hospital

    Dublin, D08 NHY1, Ireland

  • St Jude Children's Research Hospital

    Memphis, Tennessee, 38105, United States

  • St. Justine Hospital

    Montreal, Quebec, H3T 1C5, Canada

  • Stanford University Medical Center

    Palo Alto, California, 94304, United States

  • The Catholic University of Korea, Seoul St. Mary's Hospital

    Seoul, South Korea

  • The Newcastle Upon Tyne Hospitals NHS Foundation Trust

    Newcastle upon Tyne, NE1 4LP, United Kingdom

  • Toronto General Hospital

    Toronto, Ontario, M5G 2C4, Canada

  • UMass Memorial Medical Center

    Worcester, Massachusetts, 01655-0002, United States

  • Universitair Medisch Centrum Utrecht

    Utrecht, 3508 GA, Netherlands

  • Universitatsklinikum Heidelberg

    Heidelberg, 69120, Germany

  • Universitatsklinikum Wurzburg

    Würzburg, 97080, Germany

  • University of Arkansas for Medical Sciences

    Little Rock, Arkansas, 72205, United States

  • University of Vermont Medical Center

    Burlington, Vermont, 05401, United States

  • Ustav hematologie a krevni transfuze

    Prague, 128 20, Czechia

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