A Long-Term Observational Study of Patients With Fucosidosis

A Retrospective and Prospective Natural History Study of Patients With Fucosidosis

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07615400

Enrollment

Registered

2026-05-29

Start date

2026-03-25

Completion date

2031-01-01

Last updated

2026-09-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

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

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

India, Netherlands, Tunisia, Turkey (Türkiye), United Kingdom, United States

Contacts

CONTACTJCR Pharmaceuticals Co., Ltd.

clinical_development@jp.jcrpharm.com+81 797 328582

PRINCIPAL_INVESTIGATORKarolina M Stepien, MD

Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust

Outcome results