A Long-Term Observational Study of Patients With Fucosidosis

NCT07615400 · tracked via the Priya Life Science India tracker

Sponsor

JCR Pharmaceuticals Co., Ltd.

Phase

Observational

Started

2026-03-25

Last updated

2026-09-17

Condition(s) studied

Fucosidosis

Study 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 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.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

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

Primary outcome measure(s)

Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products — Baseline to up to 4 years
These observations are intended to inform possible future treatment studies.

Trial sites (16)

Facility	City	Region	Status
Children's Hospital of Orange County	Orange	California	Recruiting
University of Minnesota Health	Minneapolis	Minnesota	Not Yet Recruiting
Indira Gandhi Institute of Child Health, Department of Pediatric Neurology	Bengaluru	India	Not Yet Recruiting
Erasmus University Medical Center	Rotterdam	Netherlands	Recruiting
La Rabta Hospital	Tunis	Tunisia	Not Yet Recruiting
National Institute Mongi-Ben Hamida of Neurology of Tunis	Tunis	Tunisia	Not Yet Recruiting
Cukurova University, Faculty of Medicine	Adana	Turkey (Türkiye)	Not Yet Recruiting
Istanbul University Cerrahpasa Medical Faculty Hospital	Istanbul	Turkey (Türkiye)	Recruiting
Marmara University Pendik Training and Research Hospital	Istanbul	Turkey (Türkiye)	Recruiting
Ege University, Faculty of Medicine	Izmir	Turkey (Türkiye)	Not Yet Recruiting
Dokuz Eylül University Hospital	Izmir	Turkey (Türkiye)	Recruiting
Royal Belfast Hospital for Sick Children	Belfast	United Kingdom	Not Yet Recruiting
Birmingham Women's and Children's NHS Foundation Trust	Birmingham	United Kingdom	Recruiting
National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital	London	United Kingdom	Not Yet Recruiting
St. Mary's Hospital, Manchester University NHS Foundation Trust	Manchester	United Kingdom	Not Yet Recruiting
Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust	Salford	United Kingdom	Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07615400 on ClinicalTrials.gov ↗ ← All trials in India