RecruitingNCT07615400

A Long-Term Observational Study of Patients With Fucosidosis

A Retrospective and Prospective Natural History Study of Patients With Fucosidosis


Sponsor

JCR Pharmaceuticals Co., Ltd.

Enrollment

57 participants

Start Date

Mar 25, 2026

Study Type

OBSERVATIONAL

Conditions

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

Inclusion Criteria3

  • \- Confirmed diagnosis of fucosidosis
  • Patient is alive
  • Confirmed diagnosis of fucosidosis

Exclusion Criteria5

  • 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
  • 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

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Locations(16)

Children's Hospital of Orange County

Orange, California, United States

University of Minnesota Health

Minneapolis, Minnesota, United States

Indira Gandhi Institute of Child Health, Department of Pediatric Neurology

Bengaluru, India

Erasmus University Medical Center

Rotterdam, Netherlands

La Rabta Hospital

Tunis, Tunisia

National Institute Mongi-Ben Hamida of Neurology of Tunis

Tunis, Tunisia

Cukurova University, Faculty of Medicine

Adana, Turkey (Türkiye)

Istanbul University Cerrahpasa Medical Faculty Hospital

Istanbul, Turkey (Türkiye)

Marmara University Pendik Training and Research Hospital

Istanbul, Turkey (Türkiye)

Ege University, Faculty of Medicine

Izmir, Turkey (Türkiye)

Dokuz Eylül University Hospital

Izmir, Turkey (Türkiye)

Royal Belfast Hospital for Sick Children

Belfast, United Kingdom

Birmingham Women's and Children's NHS Foundation Trust

Birmingham, United Kingdom

National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital

London, United Kingdom

St. Mary's Hospital, Manchester University NHS Foundation Trust

Manchester, United Kingdom

Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust

Salford, United Kingdom

View Full Details on ClinicalTrials.gov

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NCT07615400