A Long-Term Observational Study of Patients With Fucosidosis

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 outcomes

• 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.

Sex: All

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

• Karolina M Stepien, MD, Principal investigator, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust