Fucosidosis Lysosomal storage disorders Fucosidase deficiency Fucosidosis
Conditions
Interventions
None listed
Sponsors
JCR Pharmaceuticals Co., Ltd.
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Part A:(1) Patient with at least one of the following; o documented biochemical evidence of a deficiency in FUCA1 enzyme activity (defined as FUCA1 <LLN in leukocytes) o confirmed biallelic genetic mutation(s) in the gene coding for FUCA1 enzyme (2) Signed ICF. If the patient is aged <18 years at the time of ICF, or willingness to participate in the study cannot be confirmed due to fucosidosis intellectual disability, the patients’ legally acceptable representative (e.g., his/her parents or guardians), may sign the ICF on behalf of the patient. Written informed assent must be obtained from the patient, wherever possible.Part B:(1) Patient is alive (2) Confirmed laboratory diagnosis of fucosidosis as demonstrated by both of the following (both of which will be re-confirmed by a report from a CLIA approved laboratory if not already available): o documented biochemical evidence of a deficiency in FUCA1 enzyme activity (defined as FUCA1 <LLN in leukocytes) o biallelic mutation(s) in the gene coding for FUCA1 enzyme (3) Signed ICF. If the patient is aged <18 years at the time of ICF, or willingness to participate in the study cannot be confirmed due to fucosidosis intellectual disability, the patients’ legally acceptable representative (e.g., his/her parents or guardians), may sign the ICF on behalf of the patient. Written informed assent must be obtained from the patient, wherever possible.
Exclusion criteria
Exclusion criteria: Part A:(1) Patient/parent/caregiver not willing to consent participate (2) 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 sharingPart B(1) Patient/parent not willing to consent participate (2) Current participation in an interventional or therapeutic study (3) Patients who, in the opinion of the Site Investigator, would be unable or unsuitable to participate in the demands of the study, for example but not limited to patients under palliative care
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Overall survival from birth, by phenotype Cause of death, by phenotypeAge at developmental milestone acquisition (and if applicable, age at loss), compared to unaffected healthy population. (World Health Organization [WHO] milestones if available. If not available, for example in Part A of the study, other developmental milestones will be recorded with a note as to which standard the developmental milestones were anchored)Age at time of prescription for Percutaneous Endoscopic Gastrostomy (PEG)/Nasogastric (NG) tube insertionAge of first diagnosis of elevated left ventricular hypertrophy (LVMI) as measured by electrocardiogram (ECG) and echocardiogramAge of first diagnosis of mitral/aortic valve dysfunctionAge at time of prescription of walking aids (and/or wheelchair use, whichever comes first)Age at diagnosis of hypo/hypertonia, hypo/hyperreflexia, myopathy, and gait abnormalitiesChange in Bayley Scale for Infant and Toddler Development raw scores over time Change over time, in scaled/standard scores, neurocognitive assessments relative to chronological ageChange over time, in age-equivalent scores neurocognitive assessments relative to chronological age Change over time in Growth Score Value (GSV) measured using the BSID-III Change over time in standardized neurocognitive intelligence quotient (IQ) scores or if not available development quotient (DQ) for each available sub-domain neurocognitive scale performed Change in Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) composite scores over time Change in Vineland Adaptive Behavior Scale, Third Edition (VABS-III) GSV over time in comparison to scores for age-matched healthy norms Change in neurological Scale for the Assessment and Rating of Ataxia (SARA) scores over time compared to healthy reference norms 2)Change in 9-hole peg test scores over time, and in comparison to healthy normal dataChange over time, in physical functional capabilities, as measured by Functional | — |
Secondary
| Measure | Time frame |
|---|---|
| NAP | — |
Countries
India, Netherlands, Tunisia, Turkey, United Kingdom, United States
Contacts
Public ContactS. O'Mahony
JCR Europe B.V.
Outcome results
None listed