Recruiting

NCT Number: NCT07615400

A Long-Term Observational 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.

Recruiting

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Key information

Conditions

Fucosidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Indira Gandhi Institute of Child Health, Department of Pediatric Neurology, Bengaluru, India

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.

Study contacts

Contact information is provided by the study sponsor or research team.

JCR Pharmaceuticals Co., Ltd.

CONTACT

[email protected]

+81 797 328582

Sponsors and collaborators

Lead sponsor

JCR Pharmaceuticals Co., Ltd.

Industry

Registry information

Official study title

A Retrospective and Prospective Natural History Study of Patients With Fucosidosis

Important dates

Study start: 2026
Primary completion: 2031
Study completion: 2031
First posted: May 29, 2026
Registry last updated: May 29, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed