FucosidosisNCT07615400
A Long-Term Observational Study of Patients With Fucosidosis
An observational study of Fucosidosis, run by JCR Pharmaceuticals Co., Ltd. at 16 sites in 6 countries.
Trial summary
The purpose of this observational research study is to learn more about the natural history of fucosidosis, its symptoms, and how it develops over time. This study intends to collect information from participants diagnosed with fucosidosis; however, this study does not include any medication or treatment other than… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fucosidosis
- How many people
- 57 participants
- Where
- 16 sitesin 6 countries
- Study dates
- 25 Mar 2026to Jan 2031
- 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: Individuals of any age diagnosed with fucosidosis. Part A: living and deceased participants. Part B: living participants.
Who may be able to join
- Confirmed diagnosis of fucosidosis
- Patient either with or without previous allogeneic hematopoietic stem cell transplant (HSCT) for treatment of fucosidosis
- Patient is living
- Confirmed diagnosis of fucosidosis
- Patient either with or without previous allogeneic HSCT for treatment of fucosidosis
Who cannot join
- Patient/parent/caregiver not willing to consent to participate
- Patient deceased with no availability of appropriate historical consent, and patient's family/caregivers are either unable to be contacted, or refuse consent to data sharing
- Patient/parent/caregiver not willing to consent to participate
- Current participation in any other interventional or therapeutic study (exception: patients who have previously received bone marrow / HSCT as treatment for fucosidosis are not excluded)
- Patients who, in the opinion of the site investigator, would be unable or unsuitable to participate in the demands of the study
Trial locations and contacts
16 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
16 sites in 6 countries
Turkey (Türkiye)5 sites, 5 recruiting
- Not yet recruiting
Cukurova University, Faculty of Medicine
Adana, 01339
- Recruiting
Istanbul University Cerrahpasa Medical Faculty Hospital
Istanbul, 34098
- Recruiting
Marmara University Pendik Training and Research Hospital
Istanbul, 34899
- Not yet recruiting
Ege University, Faculty of Medicine
Izmir, 35100
- Recruiting
Dokuz Eylül University Hospital
Izmir, 35330
United Kingdom5 sites, 5 recruiting
- Not yet recruiting
Royal Belfast Hospital for Sick Children
Belfast, BT12 6BA
- Recruiting
Birmingham Women's and Children's NHS Foundation Trust
Birmingham, B4 6NH
- Not yet recruiting
National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital
London, WC1N 3JH
- Not yet recruiting
St. Mary's Hospital, Manchester University NHS Foundation Trust
Manchester, M13 9WL
- Recruiting
Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust
Salford, M6 8HD
United States2 sites, 2 recruiting
- Not yet recruiting
University of Minnesota Health
Minneapolis, Minnesota, 55455
- Recruiting
Children's Hospital of Orange County
Orange, California, 92868
Tunisia2 sites, 2 recruiting
- Not yet recruiting
La Rabta Hospital
Tunis, 1007
- Not yet recruiting
National Institute Mongi-Ben Hamida of Neurology of Tunis
Tunis, 1007
India1 site, 1 recruiting
- Not yet recruiting
Indira Gandhi Institute of Child Health, Department of Pediatric Neurology
Bengaluru, 560029
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus University Medical Center
Rotterdam, 3015 AA
About this study
Official title: A Retrospective and Prospective Natural History Study of Patients With Fucosidosis
The purpose of this observational research study is to learn more about the natural history of fucosidosis, its symptoms, and how it develops over time.
This study intends to collect information from participants diagnosed with fucosidosis; however, this study does not include any medication or treatment other than the usual medical care provided to study participants.
Read more
The information collected in this study will be used to help understand the disease characteristics of fucosidosis; with this information potentially being able to help design future studies and treatments for this disease.
There is currently no approved treatment for patients with fucosidosis.
The study consists of 2 parts: a) Part A - retrospective data collection, and b) Part B - prospective data collection.
Read the detailed description
Time Perspective: Both retrospective (Part A) and prospective (Part B).
Enrollment: Part A is anticipated to enroll up to 57 participants for retrospective data collection. Part B is anticipated to enroll up to 31 participants for prospective data collection, the majority of whom are expected to be participants also enrolled in Part A.
- Conditions
- Fucosidosis
- Keywords
- fucosidosis, Lysosomal Storage Diseases, alpha-L-Fucosidase, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolism, Inborn Errors, Alpha-Fucosidase Deficiency, Brain Diseases, Metabolic, Inborn, Lysosomal Storage Diseases, Nervous System
- Medical subject headings
- Fucosidosis, Lysosomal Storage Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolism, Inborn Errors, Brain Diseases, Metabolic, Inborn, Lysosomal Storage Diseases, Nervous System
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products
These observations are intended to inform possible future treatment studies.
Measured: Baseline to up to 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2026
- Study start25 Mar 2026
- Primary completionJan 2031 (estimated)
- Study completionJan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FucosidosisStudies 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
- Cohort
- Time perspective
- Other
- Enrolment
- 57 participants (estimated)
Sponsor and investigators
- Lead sponsor
- JCR Pharmaceuticals Co., Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Karolina M Stepien, MD, Principal investigator, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07615400
- Sponsor's protocol ID
- JR-471-NHX
- Status last verified
- Sep 2026
- First submitted
- 22 May 2026
- Last updated
- 17 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective and Prospective Natural History Study of Patients With Fucosidosis
- ClinicalTrials.gov ID
- NCT07615400
- Acronym / sponsor ID
- JR-471-NHX
- Conditions
- Fucosidosis
- Keywords
- fucosidosis, Lysosomal Storage Diseases, alpha-L-Fucosidase, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolism, Inborn Errors, Alpha-Fucosidase Deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 57 participants (estimated)
- Lead sponsor
- JCR Pharmaceuticals Co., Ltd.Industry (pharma, biotech, devices)
- Study start
- 25 Mar 2026 (actual)
- Primary completion
- Jan 2031 (estimated)
- Study completion
- Jan 2031 (estimated)
- First posted
- 29 May 2026 (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.
The purpose of this observational research study is to learn more about the natural history of fucosidosis, its symptoms, and how it develops over time.
This study intends to collect information from participants diagnosed with fucosidosis; however, this study does not include any medication or treatment other than the usual medical care provided to study participants.
The information collected in this study will be used to help understand the disease characteristics of fucosidosis; with this information potentially being able to help design future studies and treatments for this disease.
There is currently no approved treatment for patients with fucosidosis.
The study consists of 2 parts: a) Part A - retrospective data collection, and b) Part B - prospective data collection.
Detailed description
Time Perspective: Both retrospective (Part A) and prospective (Part B).
Enrollment: Part A is anticipated to enroll up to 57 participants for retrospective data collection. Part B is anticipated to enroll up to 31 participants for prospective data collection, the majority of whom are expected to be participants also enrolled in Part A.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age diagnosed with fucosidosis. Part A: living and deceased participants. Part B: living participants.
Key inclusion criteria (5 listed)
- Confirmed diagnosis of fucosidosis
- Patient either with or without previous allogeneic hematopoietic stem cell transplant (HSCT) for treatment of fucosidosis
- Patient is living
- Confirmed diagnosis of fucosidosis
- Patient either with or without previous allogeneic HSCT for treatment of fucosidosis
Key exclusion criteria (5 listed)
- Patient/parent/caregiver not willing to consent to participate
- Patient deceased with no availability of appropriate historical consent, and patient's family/caregivers are either unable to be contacted, or refuse consent to data sharing
- Patient/parent/caregiver not willing to consent to participate
- Current participation in any other interventional or therapeutic study (exception: patients who have previously received bone marrow / HSCT as treatment for fucosidosis are not excluded)
- Patients who, in the opinion of the site investigator, would be unable or unsuitable to participate in the demands of the study
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
Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products
Time frame: Baseline to up to 4 years
These observations are intended to inform possible future treatment studies.
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 17 Sep 2026.
- Individual participant dataSharing planned: No
Related trials for Fucosidosis
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
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.
Karolina M Stepien, MD principal investigator
Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust
16 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fucosidosis, run by JCR Pharmaceuticals Co., Ltd. at 16 sites in 6 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 5 inclusion and 5 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 17 Sep 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 Turkey (Türkiye), United Kingdom, United States, Tunisia, India and 1 more country. 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 JCR Pharmaceuticals Co., Ltd. (+81 797 328582, clinical_development@jp.jcrpharm.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products (time frame: Baseline to up to 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Sep 2026.