A Long-Term Observational Study of Patients With Fucosidosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Fucosidosis. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, India, Netherlands, Tunisia, Turkey (Türkiye) +1
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Retrospective and Prospective Natural History Study of Patients With Fucosidosis
Overview
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.
Primary outcome measures
- 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]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Turkey (Türkiye) · 5 centers
- Cukurova University, Faculty of Medicine — Adana
- Istanbul University Cerrahpasa Medical Faculty Hospital — Istanbul
- Marmara University Pendik Training and Research Hospital — Istanbul
- Ege University, Faculty of Medicine — Izmir
- Dokuz Eylül University Hospital — Izmir
United Kingdom · 5 centers
- Royal Belfast Hospital for Sick Children — Belfast
- Birmingham Women's and Children's NHS Foundation Trust — Birmingham
- National Institute for Health and Care Research Clinical Research Facility, Great Ormond S — London
- St. Mary's Hospital, Manchester University NHS Foundation Trust — Manchester
- Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foun — Salford
United States · 2 centers
- Children's Hospital of Orange County — Orange
- University of Minnesota Health — Minneapolis
Tunisia · 2 centers
- La Rabta Hospital — Tunis
- National Institute Mongi-Ben Hamida of Neurology of Tunis — Tunis
India · 1 center
- Indira Gandhi Institute of Child Health, Department of Pediatric Neurology — Bengaluru
Netherlands · 1 center
- Erasmus University Medical Center — Rotterdam
Identifiers
NCT: NCT07615400 · JR-471-NHX