A Long-Term Observational Study of Patients With Fucosidosis

May 22, 2026 updated by: JCR Pharmaceuticals Co., Ltd.

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.

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
57

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • India
      • Bengaluru, India, 560029
        • Not yet recruiting
        • Indira Gandhi Institute of Child Health, Department of Pediatric Neurology
  • Netherlands
      • Rotterdam, Netherlands, 3015 AA
        • Not yet recruiting
        • Erasmus University Medical Center
  • Tunisia
      • Tunis, Tunisia, 1007
        • Not yet recruiting
        • La Rabta Hospital
      • Tunis, Tunisia, 1007
        • Not yet recruiting
        • National Institute Mongi-Ben Hamida of Neurology of Tunis
  • Turkey (Türkiye)
      • Adana, Turkey (Türkiye), 01339
        • Not yet recruiting
        • Cukurova University, Faculty of Medicine
      • Istanbul, Turkey (Türkiye), 34899
        • Not yet recruiting
        • Marmara University Pendik Training and Research Hospital
      • Istanbul, Turkey (Türkiye), 34098
        • Not yet recruiting
        • Istanbul University Cerrahpasa Medical Faculty Hospital
      • Izmir, Turkey (Türkiye), 35100
        • Not yet recruiting
        • Ege University, Faculty of Medicine
      • Izmir, Turkey (Türkiye), 35330
        • Not yet recruiting
        • Dokuz Eylul University Hospital
  • United Kingdom
      • Belfast, United Kingdom, BT12 6BA
        • Not yet recruiting
        • Royal Belfast Hospital for Sick Children
      • Birmingham, United Kingdom, B4 6NH
        • Not yet recruiting
        • Birmingham Women's and Children's NHS Foundation Trust
      • London, United Kingdom, WC1N 3JH
        • Not yet recruiting
        • National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital
      • Manchester, United Kingdom, M13 9WL
        • Not yet recruiting
        • St. Mary's Hospital, Manchester University NHS Foundation Trust
      • Salford, United Kingdom, M6 8HD
        • Recruiting
        • Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust
  • United States
    • California
      • Orange, California, United States, 92868
        • Recruiting
        • Children's Hospital of Orange County
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • Not yet recruiting
        • University of Minnesota Health

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals of any age diagnosed with fucosidosis. Part A: living and deceased participants. Part B: living participants.

Description

Inclusion Criteria (Part A):

- Confirmed diagnosis of fucosidosis

Exclusion Criteria (Part A):

  • 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

Inclusion Criteria (Part B):

  • Patient is alive
  • Confirmed diagnosis of fucosidosis

Exclusion Criteria (Part B):

  • Patient/parent/caregiver not willing to consent to participate
  • Current participation in an interventional or therapeutic study
  • Patients who, in the opinion of the site investigator, would be unable or unsuitable to participate in the demands of the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
Baseline to up to 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
JCR Pharmaceuticals Co., Ltd.

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Karolina M Stepien, MD, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 25, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 1, 2031

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 1, 2031

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 22, 2026

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 22, 2026

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 29, 2026

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
May 29, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 22, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • JR-471-NHX

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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