Recruiting

Observational StudyA Long-Term Observational Study of Patients With Fucosidosis

Sponsor:

JCR Pharmaceuticals Co., Ltd.

Code:

NCT07615400

Conditions

Fucosidosis

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Fucosidosis

Study ID

NCT07615400

Start date

Mar 25, 2026

Status verified date

Aug, 2026

Completion date

Jan, 2031

Anticipated

Primary completion date

Jan, 2031

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

57 participants

Anticipated

Interventions and Outcome Measures

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 ]

Central Contacts and Locations

Central contacts

JCR Pharmaceuticals Co., Ltd.

+81 797 328582 clinical_development@jp.jcrpharm.com

Locations

Children's Hospital of Orange County

Recruiting

Orange, California, United States, 92868

More Information

Sponsor

JCR Pharmaceuticals Co., Ltd.

Last update posted

Aug 5, 2026

Last verified

Aug, 2026

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by JCR Pharmaceuticals Co., Ltd. on 2026-08-05.