A Long-Term Observational Study of Patients With Fucosidosis

RecruitingObservational study

A Retrospective and Prospective Natural History Study of Patients With Fucosidosis

Who can join

All ages · All sexes

Full eligibility criteria

Inclusion Criteria (Part A):

* Confirmed diagnosis of fucosidosis
* Patient either with or without previous allogeneic hematopoietic stem cell transplant (HSCT) for treatment 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 living
* Confirmed diagnosis of fucosidosis
* Patient either with or without previous allogeneic HSCT for treatment of fucosidosis

Exclusion Criteria (Part B):

* 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

About the study

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.

Sponsor: JCR Pharmaceuticals Co., Ltd. · Participants: 57 · Started: Mar 25, 2026

Contact the study team

JCR Pharmaceuticals Co., Ltd. · Phone: +81 797 328582

Official record on ClinicalTrials.gov — NCT07615400

Locations in the U.S.

California	Children's Hospital of Orange County, Orange
Minnesota	University of Minnesota Health, Minneapolis (Not yet recruiting)

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.