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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.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products | These observations are intended to inform possible future treatment studies. | Baseline to up to 4 years |
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Inclusion Criteria (Part A):
- Confirmed diagnosis of fucosidosis
Exclusion Criteria (Part A):
Inclusion Criteria (Part B):
Exclusion Criteria (Part B):
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Individuals of any age diagnosed with fucosidosis. Part A: living and deceased participants. Part B: living participants.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| JCR Pharmaceuticals Co., Ltd. | Contact | +81 797 328582 | clinical_development@jp.jcrpharm.com |
| Name | Affiliation | Role |
|---|---|---|
| Karolina M Stepien, MD | Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Orange County | Recruiting | Orange | California | 92868 | United States | |
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Blood, urine, cerebrospinal fluid (CSF)
| University of Minnesota Health |
| Not yet recruiting |
| Minneapolis |
| Minnesota |
| 55455 |
| United States |
| Indira Gandhi Institute of Child Health, Department of Pediatric Neurology | Not yet recruiting | Bengaluru | 560029 | India |
| Erasmus University Medical Center | Not yet recruiting | Rotterdam | 3015 AA | Netherlands |
| La Rabta Hospital | Not yet recruiting | Tunis | 1007 | Tunisia |
| National Institute Mongi-Ben Hamida of Neurology of Tunis | Not yet recruiting | Tunis | 1007 | Tunisia |
| Cukurova University, Faculty of Medicine | Not yet recruiting | Adana | 01339 | Turkey (Türkiye) |
| Istanbul University Cerrahpasa Medical Faculty Hospital | Not yet recruiting | Istanbul | 34098 | Turkey (Türkiye) |
| Marmara University Pendik Training and Research Hospital | Not yet recruiting | Istanbul | 34899 | Turkey (Türkiye) |
| Ege University, Faculty of Medicine | Not yet recruiting | Izmir | 35100 | Turkey (Türkiye) |
| Dokuz Eylül University Hospital | Not yet recruiting | Izmir | 35330 | Turkey (Türkiye) |
| Royal Belfast Hospital for Sick Children | Not yet recruiting | Belfast | BT12 6BA | United Kingdom |
| Birmingham Women's and Children's NHS Foundation Trust | Not yet recruiting | Birmingham | B4 6NH | United Kingdom |
| National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital | Not yet recruiting | London | WC1N 3JH | United Kingdom |
| St. Mary's Hospital, Manchester University NHS Foundation Trust | Not yet recruiting | Manchester | M13 9WL | United Kingdom |
| Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust | Recruiting | Salford | M6 8HD | United Kingdom |
| ID | Term |
|---|---|
| D005645 | Fucosidosis |
| D016464 | Lysosomal Storage Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| ID | Term |
|---|---|
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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