X-Linked HypophosphatemiaNCT03193476

Registry for Patients With X-Linked Hypophosphatemia

An observational study of X-Linked Hypophosphatemia, run by Kyowa Kirin Pharmaceutical Development Ltd at 118 sites in 20 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts

Official record

Search all trials

Trial summary

This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH). The main objective of this XLH Registry is to collect data to characterise the treatment, progression and long-term outcomes of XLH in both adult and paediatric settings. Read more about this study

Who is it for?: Any age
Conditions the study is for: X-Linked Hypophosphatemia
How many people: 1,489 participants
Where: 118 sitesin 20 countries
Study dates: 12 Sep 2017to 1 Jul 2029
How long will I take part?: 10 Years
Phase: Observational
Are there results?: Not yet: the study is under way

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 Any age
All sexes
No healthy volunteers
Child, Adult, Older adult

Study population: Patients with XLH independent of treatment regimen

Who may be able to join

Patients aged from ≥0 years of age at baseline
In the opinion of the treating physician the patient has a clinical presentation, radiological, biochemical or genetic investigation results that support diagnosis of XLH
Patient is not currently participating in an interventional clinical trial
A patient who meets any of the following criteria at the enrolment visit (baseline) will be excluded from this XLH Registry

Who cannot join

Patient or their legally designated representative does not have the cognitive capacity to provide informed consent.
Patient is currently participating in an interventional clinical trial. Patients will be approached for inclusion into the registry once their involvement in the trial ends (including the completion of all trial follow up assessments).
Participation in a Compassionate Use Program, Pre-commercial Program (i.e. Named Patient Sales, Nominative ATU) or Investigator Initiated Study does not preclude a patient from participation in this XLH Registry

Trial locations and contacts

118 sites in 20 countries. Contact the study team or a site near you to ask about taking part.

Clinical Trial Cordinator contact

+49 15114861167

KKI-IMA-XLH-Registry@kyowakirin.com

Country

City, postcode or hospital

Sites recruiting now only

118 sites in 20 countries

United Kingdom22 sites

Royal Belfast Hospital for Sick Children
Belfast, BT12 6BE
Active, not recruiting
Birmingham Children's Hospital
Birmingham, B4 6NH
Active, not recruiting
University Hospitals Bristol and Weston
Bristol, BS2 8AE
Active, not recruiting
Addenbrooke's Hospital
Cambridge, CB2 2QQ
Active, not recruiting
University Hospital of Wales
Cardiff, CF14 4XW
Active, not recruiting
Western General Hospital
Edinburgh, EH4 2XU
Active, not recruiting
Royal Hospital for Sick Children and Young People
Edinburgh, EH9 1LF
Active, not recruiting
Gartnavel General Hospital
Glasgow, G12 0XH
Active, not recruiting
Queen Elizabeth University Hospital
Glasgow, G12 0YN
Active, not recruiting
Raigmore Hospital
Inverness, IV2 3UJ
Active, not recruiting
Leeds General Infirmary
Leeds, LS1 3EX
Active, not recruiting
Alder Hey Children's Hospital
Liverpool, L12 2AP
Active, not recruiting
Royal Liverpool University Hospital
Liverpool, L7 8XP
Active, not recruiting
National Hospital for Neurology and Neurosurgery
London, NW1 2PG
Active, not recruiting
Evelina Childrens Hospital
London, SE1 7EH
Active, not recruiting
Great Ormond Street Hospital for Children
London, WC1N 3JH
Active, not recruiting
Royal Manchester Children's Hospital
Manchester, M13 9WL
Active, not recruiting
Oxford University Hospital NHS Trust
Oxford, OX3 7LD
Active, not recruiting
Sheffield Childrens Hospital
Sheffield, S10 2RX
Active, not recruiting
Sheffield Teaching Hospitals
Sheffield, S5 7AU
Active, not recruiting
Southampton General Hospital
Southampton, SO16 6YD
Active, not recruiting
Stanmore Royal Orthopaedic Hospital
Stanmore, HA7 4LP
Active, not recruiting

Other trials in United Kingdom

Italy19 sites

Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
Bari, 70124
Active, not recruiting
AO S. Pio G. Rumno
Benevento, 82100
Active, not recruiting
Azienda Ospedaliera Universitaria Policlinico Sant'Orsola Malpighi
Bologna, 40138
Active, not recruiting
Presidio Ospedaliero Di Summa Antonio Perrino
Brindisi, 72100
Active, not recruiting
Azienda Ospedaliera Brotzu
Cagliari, 09121
Active, not recruiting
Azienda Ospedaliera Universitaria Careggi
Florence, 50134
Active, not recruiting
Istituto Giannina Gaslini-Ospedale Pediatrico IRCCS
Genova, 16147
Active, not recruiting
ICOT-Istituto Chirurgico Ortopedico Traumatologico
Latina, 04100
Active, not recruiting
Azienda Ospedaliera Universitaria Policlinico G. Martino
Messina, 98125
Active, not recruiting
Ospedale San Raffaele - Adult
Milan, 20132
Active, not recruiting
Ospedale San Raffaele
Milan, 20132
Active, not recruiting
Azienda Ospedaliera di Padova
Padova, 35128
Active, not recruiting
Azienda Ospedaliera di Padova
Padua, 35100
Active, not recruiting
Istituto Auxologico Italiano -I.R.C.C.S.
Piancavallo, 20145
Active, not recruiting
Stabilimento Ospedaliero Santa Chiara
Pisa, 56100
Active, not recruiting
Ospedale Pediatrico Bambino Gesù
Roma, 00165
Active, not recruiting
Azienda Ospedaliera Città della Salute e della Scienza di Torino (Presidio Sant'Anna)
Torino, 10126
Active, not recruiting
Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino
Torino, 10126
Active, not recruiting
I.R.C.C.S. Burlo Garofolo
Trieste, 34137
Active, not recruiting

Other trials in Italy

France11 sites

Groupe Hospitalier Pellegrin - Hôpital des Enfants
Bordeaux, 33000
Active, not recruiting
CHU de Lyon - Hôpital Femme Mere Enfant
Bron, 69677
Active, not recruiting
CHRU Lille
Lille, 59037
Active, not recruiting
Hopital Roger Salengro - CHU Lille
Lille, 59037
Active, not recruiting
Hopital Arnaud de Villeneuve
Montpellier, 34295
Active, not recruiting
CHU de Nantes
Nantes, 44000
Active, not recruiting
Hôpital Cochin
Paris, 75679
Active, not recruiting
CHU Paris Sud - Hopital Bicêtre
Paris, 94270
Active, not recruiting
Hôpital Bicêtre
Paris, 94275
Active, not recruiting
"Hopital Pierre-Paul Riquet Centre de Rhumatologie"
Toulouse, 31059
Active, not recruiting
Hopital Purpan
Toulouse, 31059
Active, not recruiting

Other trials in France

Spain11 sites

Hospital de Cruces
Barakaldo, 48903
Active, not recruiting
Hospital Universitari Vall d'Hebron
Barcelona, 08035
Active, not recruiting
Hospital Clinic de Barcelona
Barcelona, 08036
Active, not recruiting
Hospital General Universitario Santa Lucía
Cartagena, 30202
Active, not recruiting
Hospital Universitario Virgen de la Arrixaca
El Palmar, 30120
Active, not recruiting
Hospital Sant Joan de Deu
Esplugues de Llobregat, 08950
Active, not recruiting
Complejo Hospitalario Universitario Insular Materno-Infantil
Las Palmas de Gran Canaria, 35016
Active, not recruiting
Hospital Infantil Universitario Niño Jesus
Madrid, 28009
Active, not recruiting
Hospital Universitario Central de Asturias
Oviedo, 33006
Active, not recruiting
Hospital Central de Asturias
Oviedo, 33011
Active, not recruiting
Hospital Universitario Nuestra Señora de la Candelaria
Santa Cruz de Tenerife, 38010
Active, not recruiting

Other trials in Spain

Germany8 sites

Klinikum Ernst-von-Bergmann Potsdam und Bad Belzig
Bad Belzig
Active, not recruiting
Uniklinikum Bochum
Bochum, 44791
Withdrawn
Uniklinikum Koeln
Cologne, 50937
Withdrawn
MVZ Dr. Eberhard & Partner
Dortmund, 44137
Withdrawn
Universitaetsklinikum Freiburg
Freiburg im Breisgau, 79106
Withdrawn
Medizinische Hochschule Hannover
Hanover, 30625
Active, not recruiting
Universitaetsklinikum
Leipzig, 04103
Active, not recruiting
Hormon and Stoffwechselzentrum
Mainz, 55122
Active, not recruiting

Other trials in Germany

Belgium7 sites

Hopital Universitaire des Enfants Reine Fabiola
Brussels, 1020
Active, not recruiting
Universitair Ziekenhuis Brussel
Brussels, 1090
Active, not recruiting
Cliniques Universitaires Saint-Luc
Brussels, 1200
Active, not recruiting
UZA
Edegem, 2650
Active, not recruiting
Universitair Ziekenhuis Gent
Ghent, 9000
Active, not recruiting
UZ Leuven
Leuven, 3000
Active, not recruiting
CHU de Liège
Liège, 4000
Active, not recruiting

Other trials in Belgium

Denmark7 sites

Aalborg University Hospital
Aalborg, 9100
Active, not recruiting
Århus Universitetshospital - Aarhus sygehus
Aarhus, 8200
Active, not recruiting
Århus Universitetshospital
Aarhus, 8200
Active, not recruiting
Hospital South West Jutland
Esbjerg, 6700
Completed
Rigshospitalet - Paediatric
København Ø, 2100
Active, not recruiting
Rigshospitalet
København Ø, 2100
Completed
OUH
Odense, 5000
Active, not recruiting

Other trials in Denmark

Switzerland6 sites, 6 recruiting

Inselspital Bern
Bern, 3010
Fuster, daniel.fuster@insel.ch
Recruiting
Hopitaux Universitaires de Geneve (HUG)
Geneva, 1205
Andrea Trombetti, andrea.trombetti@hcuge.ch
Recruiting
Centre Hopitalier Universitaire Vaudois
Lausanne, 1011
Elena Gonzalez-Rodriguez, elena.gonzalez-rodriguez@chuv.ch
Elena Gonzalez-Rodriguez
Recruiting
Centre Hopitalier Universitaire Vaudois
Lausanne, 1011
Hassib Chehade, hassib.chehade@chuv.ch
Hassib Chehade
Recruiting
Kantonsspital St. Gallen
Sankt Gallen, 9007
Stefan Bilz, stefan.bilz@kssg.ch
Recruiting
Klinik Hirslanden Zuerich
Zurich, 8032
Serra, andreas.serramph@hirslanden.ch
Recruiting

Other trials in Switzerland

Portugal5 sites

Hospital Pediatrico de Coimbra
Coimbra, 3030
Active, not recruiting
Centro Hospitalar de Lisboa Central, E.P.E. - Hospital Dona Estefânia
Lisbon, 1169-045
Active, not recruiting
Centro Hospitalar de Lisboa Norte, E.P.E. - Hospital de Santa Maria
Lisbon, 1649-035
Active, not recruiting
Centro Hospitalar do Porto, E.P.E. - Hospital de Santo António
Porto, 4099-001
Active, not recruiting
Hospital de Sao Joao
Porto, 4200-319
Active, not recruiting

Other trials in Portugal

Israel4 sites

Rambam Health Care Center
Haifa, 3109601
Active, not recruiting
Schneider Medical Center
Petah Tikva, 4920235
Active, not recruiting
Sheba Medical Center
Ramat Gan, 5265601
Active, not recruiting
Dana-Dwek Children's Hospital
Tel Aviv, 64239
Withdrawn

Other trials in Israel

Sweden4 sites

Queen Silvia Children's Hospital
Gothenburg, 416 85
Active, not recruiting
Lund University
Lund, 22185
Completed
Karolinska Institute
Stockholm, 112 81
Active, not recruiting
Karolinska Institute (Pediatric)
Stockholm, 171 77
Active, not recruiting

Other trials in Sweden

Norway3 sites

Oslo University Hospital
Oslo, 0424
Active, not recruiting
Oslo Universitetssykehus HF, Ulleval
Oslo, 0450
Active, not recruiting
St. Olav's University Hospital
Trondheim, 7030
Active, not recruiting

Other trials in Norway

Bulgaria2 sites

SHATPD "Prof Ivan Mitev" EAD
Sofia, 1606
Active, not recruiting
UMHAT "SofiaMed", OOD
Sofia, 1797
Active, not recruiting

Other trials in Bulgaria

Czechia2 sites

Children Hospital
Brno, 625 00
Active, not recruiting
Fakultni nemocnice v Motole
Prague, 150 06
Active, not recruiting

Other trials in Czechia

Hungary2 sites

Semmelweis Egyetem
Budapest, 1083
Active, not recruiting
Semmelweis Egyetem
Budapest, 1085
Active, not recruiting

Other trials in Hungary

Ireland1 site

The Children's University Hospital
Dublin, DO1 XD99
Active, not recruiting

Other trials in Ireland

Latvia1 site

Children's Clinical University Hospital
Riga, LV-1002
Active, not recruiting

Other trials in Latvia

Netherlands1 site

Universitair Medisch Centrum Groningen
Groningen, 9713 GZ
Active, not recruiting

Other trials in Netherlands

Slovakia1 site

National Institute of Childrenś Health NUDCH
Bratislava, 83340
Active, not recruiting

Other trials in Slovakia

Slovenia1 site

University Clinical Centre Ljubljana
Ljubljana
Active, not recruiting

Other trials in Slovenia

About this study

Official title: An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)

Read the detailed description

Methodology

This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH). The objectives of this XLH Registry is to collect natural history data of XLH to characterise the treatment, progression and long-term outcomes of XLH in both adult and paediatric patients.

This XLH Registry will invite \& include patients with XLH, of all ages \& gender, irrespective of whether they are on, or not on, a treatment regimen for their XLH.

However, patients who are concurrently participating in an interventional clinical trial, including Investigator-Initiated Studies, are excluded from the XLH Registry, as per the Exclusion Criteria as set in the Protocol. These patients participating in an interventional clinical trial, when their involvement in the trial has ended, will be approached and invited to be included in the XLH Registry.

A subset of the XLH Registry data will be used to fulfil a Post-Authorisation Safety Study (PASS) as requested by the European Medicines Agency's (EMA's) Committee for Medical Products for Human Use (CHMP). Study centres which agree to participate in the PASS will be asked to solicit adverse events on enrolled patients. Not all centres are expected to participate in the PASS. Furthermore, as part of burosumab's Risk Management Plan (RMP), the majority of the safety concerns are being investigated in a Category 3 Post-Authorisation Safety Study (PASS), which uses the XLH Registry. The data source to conduct the PASS is the data collected in the XLH Registry.

All eligible patients at the participating clinics will be asked to participate in the XLH Registry:

Informed consent will be obtained from adult patients.
Parental informed consent for the inclusion of a child will be obtained from the child's legally designated representative in line with national guidance.
Assent will also be sought from children of applicable age in line with national guidance. In all cases the health professional responsible for enrolling the patient into the XLH Registry will assess the appropriateness of gaining assent from an individual at their discretion.

After the patient or legally designated representative has signed the informed consent, the patient data will be recorded in the XLH Registry, including baseline, retrospective and prospective data. Data will be collected using a web-based Electronic Data Capture (EDC) system. A patient identification number will be automatically generated by the system upon enrolment.

No pre-determined follow-up requirements will apply. However, physicians will be prompted to update patient data in the XLH Registry in relation to the patients' visits to the physician. Physicians will be reminded to update the XLH Registry at 12 months after the previous visit information was entered for a patient.

For those patients who attend clinic at more frequent intervals as part of their standard care, data for these visits will be entered at the 12-month intervals with an option to add multiple dates.

This is a prospective observational Registry and no additional interventions other than standard clinical practice are required by the protocol.

Conditions: X-Linked Hypophosphatemia
Keywords: Crysvita, Burosumab, X-linked Hypophosphatemia (XLH), PHEX Gene Mutation, XLH Registry
Medical subject headings: Familial Hypophosphatemic Rickets

What is being measured

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

Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
Measured: 10 years

Timeline

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

12 Sep 20171 Jul 2029

First posted20 Jun 2017
Study start12 Sep 2017
Primary completion1 Feb 2029 (estimated)
Study completion1 Jul 2029 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (6)Papers the sponsor has linked to this study.
Other trials for X-Linked HypophosphatemiaStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

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: Other
Time perspective: Other
Enrolment: 1,489 participants (estimated)
Target duration: 10 Years

IDs, dates and publications

ClinicalTrials.gov ID: NCT03193476
Sponsor's protocol ID: XLH Registry Version 3.0
Status last verified: Jul 2026
First submitted: 13 Jun 2017
Last updated: 9 Jul 2026
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

Publications

Padidela R, Nilsson O, Makitie O, Beck-Nielsen S, Ariceta G, Schnabel D, Brandi ML, Boot A, Levtchenko E, Smyth M, Jandhyala R, Mughal Z. The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet J Rare Dis. 2020 Jun 30;15(1):172. doi: 10.1186/s13023-020-01434-4.
PubMed 32605590
Briot K, Lemoine S, Cortet B, Szafors P, Mehsen N, Couture G, Sandilands K, Rylands AJ, Ishii H, Bowden A, Dent JE, Kamenicky P. Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry. JBMR Plus. 2026 Mar 25;10(5):ziag050. doi: 10.1093/jbmrpl/ziag050. eCollection 2026 May.
PubMed 42038817
Linglart A, Amouroux C, Gueorguieva I, Harambat J, Salles JP, Ertl DA, Sandilands K, Rylands A, Williams A, Ishii H, Bowden A, Varni JW, Bacchetta J. Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry. JBMR Plus. 2025 Aug 30;9(10):ziaf142. doi: 10.1093/jbmrpl/ziaf142. eCollection 2025 Oct.
PubMed 41030383
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Makitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4.
PubMed 37752558
Carpenter TO, Fukumoto S, Haffner D, Imel EA, Ozono K, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Brandi ML. Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program. Bone. 2025 Dec;201:117649. doi: 10.1016/j.bone.2025.117649. Epub 2025 Sep 15.
PubMed 40962182
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Makitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022.
PubMed 36082134

Interested in taking part?

Clinical Trial Cordinator

+49 15114861167

KKI-IMA-XLH-Registry@kyowakirin.com

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See sites and contacts

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All X-Linked Hypophosphatemia trials

Study at a glance

From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)
ClinicalTrials.gov ID: NCT03193476
Acronym / sponsor ID: XLH Registry Version 3.0
Conditions: X-Linked Hypophosphatemia
Keywords: Crysvita, Burosumab, X-linked Hypophosphatemia (XLH), PHEX Gene Mutation, XLH Registry
Study type: Observational
Recruitment status: Recruiting
Enrolment: 1,489 participants (estimated)
Lead sponsor: Kyowa Kirin Pharmaceutical Development LtdIndustry (pharma, biotech, devices)
Collaborators: IQVIA Pty Ltd
Study start: 12 Sep 2017 (actual)
Primary completion: 1 Feb 2029 (estimated)
Study completion: 1 Jul 2029 (estimated)
First posted: 20 Jun 2017 (actual)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Methodology

This XLH Registry will invite \& include patients with XLH, of all ages \& gender, irrespective of whether they are on, or not on, a treatment regimen for their XLH.

All eligible patients at the participating clinics will be asked to participate in the XLH Registry:

Informed consent will be obtained from adult patients.
Parental informed consent for the inclusion of a child will be obtained from the child's legally designated representative in line with national guidance.
Assent will also be sought from children of applicable age in line with national guidance. In all cases the health professional responsible for enrolling the patient into the XLH Registry will assess the appropriateness of gaining assent from an individual at their discretion.

For those patients who attend clinic at more frequent intervals as part of their standard care, data for these visits will be entered at the 12-month intervals with an option to add multiple dates.

This is a prospective observational Registry and no additional interventions other than standard clinical practice are required by the protocol.

Study design

Observational model: Other
Time perspective: Other
Target follow-up: 10 Years

Who may qualify

Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult
Study population: Patients with XLH independent of treatment regimen

Key inclusion criteria (4 listed)

Patients aged from ≥0 years of age at baseline
In the opinion of the treating physician the patient has a clinical presentation, radiological, biochemical or genetic investigation results that support diagnosis of XLH
Patient is not currently participating in an interventional clinical trial
A patient who meets any of the following criteria at the enrolment visit (baseline) will be excluded from this XLH Registry

Key exclusion criteria (3 listed)

Patient or their legally designated representative does not have the cognitive capacity to provide informed consent.
Patient is currently participating in an interventional clinical trial. Patients will be approached for inclusion into the registry once their involvement in the trial ends (including the completion of all trial follow up assessments).
Participation in a Compassionate Use Program, Pre-commercial Program (i.e. Named Patient Sales, Nominative ATU) or Investigator Initiated Study does not preclude a patient from participation in this XLH Registry

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
Time frame: 10 years
Number of participants with treatment-related adverse events as assessed by CTCAE v4.0

Results and safety

This study is still under way. Results are not available in the source record yet.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2026.
Background: PubMed 32605590Padidela R, Nilsson O, Makitie O, Beck-Nielsen S, Ariceta G, Schnabel D, Brandi ML, Boot A, Levtchenko E, Smyth M, Jandhyala R, Mughal Z. The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet J Rare Dis. 2020 Jun 30;15(1):172. doi: 10.1186/s13023-020-01434-4.
Results publication: PubMed 42038817Briot K, Lemoine S, Cortet B, Szafors P, Mehsen N, Couture G, Sandilands K, Rylands AJ, Ishii H, Bowden A, Dent JE, Kamenicky P. Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry. JBMR Plus. 2026 Mar 25;10(5):ziag050. doi: 10.1093/jbmrpl/ziag050. eCollection 2026 May.
Results publication: PubMed 41030383Linglart A, Amouroux C, Gueorguieva I, Harambat J, Salles JP, Ertl DA, Sandilands K, Rylands A, Williams A, Ishii H, Bowden A, Varni JW, Bacchetta J. Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry. JBMR Plus. 2025 Aug 30;9(10):ziaf142. doi: 10.1093/jbmrpl/ziaf142. eCollection 2025 Oct.
Results publication: PubMed 37752558Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Makitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4.
Derived from this study: PubMed 40962182Carpenter TO, Fukumoto S, Haffner D, Imel EA, Ozono K, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Brandi ML. Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program. Bone. 2025 Dec;201:117649. doi: 10.1016/j.bone.2025.117649. Epub 2025 Sep 15.
Derived from this study: PubMed 36082134Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Makitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022.
Plain language summary of the first findings from the International X-Linked Hypophosphatemia (XLH) RegistryLink provided by the sponsor.

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.

Clinical Trial Cordinator contact

+49 15114861167

KKI-IMA-XLH-Registry@kyowakirin.com

118 sites in 20 countries: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of X-Linked Hypophosphatemia, run by Kyowa Kirin Pharmaceutical Development Ltd at 118 sites in 20 countries.

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 3 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: looking for participants now, as of the sponsor's last update on 9 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 118 sites in United Kingdom, Italy, France, Spain, Germany and 15 more countries. 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?

This study is still under way. Results are not available in the source record yet.

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

Contact Clinical Trial Cordinator (+49 15114861167, KKI-IMA-XLH-Registry@kyowakirin.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 (time frame: 10 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 NCT03193476, which also lists 6 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 9 Jul 2026.