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| Name | Class |
|---|---|
| Vaincres Les Maladies Lysosomales | UNKNOWN |
| Association Sanfilippo Sud | UNKNOWN |
| Aparito Ltd. | INDUSTRY |
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This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
This is a multi-center, natural history study of subjects with Sanfilippo syndrome type C or MPS IIIC. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis. Real-world data will be collected at home using a recording device.
Participants will be asked to attend clinic visits in person on a yearly basis. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis.
At 6-month intervals between clinic visits, participants will be contacted remotely for some safety assessments (e.g., collecting information about concomitant medications, concurrent illnesses, and procedure-related adverse events [AEs] and serious AEs [SAEs] since last clinic visit).
At 6-month intervals, caregivers will complete questionnaires and record home video assessments using a dedicated, compliant study application (app) called C-RARE (Recording Application for Real-World Evidence). The C-RARE app consists of 9 tasks of Activities of Daily Living and socialization as well as three parent reported Sanfilippo specific questionnaires.
The objectives of this study are:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retrospective and prospective observational study of patients living with MPS IIIC | Cohort 1: These participants will be a part of the retrospective and prospective Natural History Study, including the C-RARE video assessments. In clinic visits will include: neurocognitive, developmental and behavioral clinical outcome assessments as well as biochemical sample analysis, imaging measures and retrospective medical record review. Participants will record daily living activities through the C-RARE app on their mobile device. | ||
| Remote video recording study and retrospective medical chart review of patients living with MPS IIIC | Cohort 2: These participants will not attend in clinic visits. They will be a part of the C-RARE and retrospective medical chart review analysis. 35 patients with a confirmed diagnosis of MPS IIIC from English, Spanish and Portuguese speaking households will be recruited for this portion of the study. | ||
| Retrospective medical chart review of MPS IIIC patients either living or deceased | Cohort 3: Deceased or living medical record analysis only of patients with MPS IIIC. Living patients will not be participating in cohort 1 clinical study or cohort 2 C-RARE study. |
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| Measure | Description | Time Frame |
|---|---|---|
| Change From Baseline in Development Quotient (DQ) Using Bayley Scales of Infant Development Assessment Fourth Edition | The Bayley Scales of Infant and Toddler Development, 4th edition (Bayley-4) is a standardized developmental assessment that provides raw scores for 5 subtests (cognitive, expressive communication, receptive communication, fine motor, gross motor) and standard score norms converted to percentiles for 3 scales (cognition, communication, motor). The Bayley-4 raw scores range from 0-162 for the cognitive subtest, 0-84 for the receptive communication subtest, 0-74 for the expressive communication subtest, 0-92 for the fine motor subtest, and 0-116 for the gross motor subtest; a higher score denotes a better outcome. The Bayley-4 standard score norms are converted to percentiles from <0.1 to >99.9 for the cognitive, language, and motor scales; a higher percentile denotes a better outcome. | Baseline, 12 months and 24 months |
| Change From Baseline in Vineland Adaptive Behavior Scales Second Edition (VABS-II) Development Quotient (DQ) Score | The VABS-II test measures adaptive behaviors, including the ability to cope with environmental changes, to learn new everyday skills, and to demonstrate independence. The DQ is a means to express a neurodevelopmental/cognitive delay. The DQ was computed as a ratio and expressed as a percentage using the age-equivalent score divided by the age at testing ([age-equivalent score/chronological age] × 100; range, 0, 100). The overall DQ score is calculated from the mean age-equivalent score obtained by averaging out the age-equivalent scores for the all the sub-domains except for Gross and Fine motor skills. This test measures the following 5 key domains: communication, daily living skills, socialization, motor skills, and the adaptive behavior composite (a composite of the other 4 domains). A positive value indicates improvement in health and cognition. | Baseline, 12 months and 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Change From Baseline on the Color Trail Test Time Score | Children's Color Trail Test (CCTT) assesses sustained attention, sequencing, and other executive functions while reducing reliance on language. A shorter time to completion denotes a better outcome. | Baseline, 12 months and 24 months |
| Change From Baseline of Regional Brain Volumes |
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Inclusion Criteria:
Confirmed diagnosis of Sanfilippo syndrome type C disease by all of the following:
Functional abilities:
Exclusion Criteria:
Patients who meet any of the following criteria will not be eligible to participate in the study:
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Patients with a documented diagnosis of Sanfilippo syndrome type C and who are currently untreated with investigational products (drugs/device) for this disease.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Nathalie Reynes | Contact | 04 72 12 95 37 | nathalie.reynes@chu-lyon.fr | |
| Nathalie Guffon, MD | Contact | 04 72 12 95 37 | nathalie.guffon-fouilhoux@chu-lyon.fr |
| Name | Affiliation | Role |
|---|---|---|
| Nathalie Guffon, MD | Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The University of Texas Southwestern Medical Center | Recruiting | Dallas | Texas | 75390 | United States |
The data collected as part of the observational study may be analyzed and published. Phoenix Nest recognizes the importance of communicating medical study data and therefore encourages the publication of these data in reputable scientific journals and at seminars or conferences. The details of the processes of producing and reviewing reports, manuscripts, and presentations based on the data from this study will be described in the Clinical Trial Agreement between Phoenix Nest and the Investigator/institution. Consideration for authorship of all publications will be based on compliance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals ("Uniform Requirements") of the International Committee of Medical Journal Editors (http://www.icmje.org/ethical\_1author.html) and Good Publication Practices.
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| ID | Term |
|---|---|
| D009084 | Mucopolysaccharidosis III |
| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
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Blood (plasma and serum), cerebrospinal fluid (CSF), urine.
Assessed by MRI, and especially cortical grey matter volume (CGMV). The brain MRI will assess volumes of the whole brain, basal ganglia, cerebellum, cerebellar gray matter, cerebellar white matter, cerebral white matter, cortical gray matter, cortical white matter, subcortical gray matter and ventricles; corpus callosum, cortical thickness; and whole brain apparent diffusion coefficient. |
| Baseline, 12 months and 24 months |
| Change From Baseline on the Assessment of Behavioral Changes in Sanfilippo (ABCS) | There are 12 questions in the ABCS relating to behavior(s) that caregivers of children with Sanfilippo might find challenging to manage. Change from baseline will be determined by raw scores, a higher score denoting improvement in behavior. | Baseline, 6 months, 12 months, 18 months, 24 months |
| Change From Baseline on the Functional Abilities Descriptive Analysis of Type C- Recording Application for Real-world Evidence (C-RARE) | Participants functional abilities will be captured via the C- RARE app at baseline, 6 months, 12 months, 18 months, 24 months while performing tasks of Activities of Daily Living (ADLs). ADLs include: Clothing Management, Eating and Drinking, Chewing and Swallowing, Hygiene, Maintaining and Changing positions, Writing Skills, and Walking. | Baseline, 6 months, 12 months, 18 months, 24 months |
| Change From Baseline on the Peabody Picture Vocabulary Test, Fifth Edition | The PPVT-5 is a norm-referenced and individually administered measure of receptive vocabulary. Upon hearing a word, the child will be asked to indicate (by pointing) which picture among four options is specified. | Baseline, 12 months, 24 months |
| Change From Baseline on the Expressive Vocabulary Test Third Edition | The EVT-3 is a norm-referenced and individually administered test of expressive language. | Baseline, 12 months, 24 months |
| Change From Baseline in Speech Through Picture Description | Picture Description will be used to measure speech rate, utterance length, grammatical competence, lexical retrieval ability, and motor speech features in subjects. | Baseline, 12 months, 24 months |
| Hospices Civils De Lyon | Recruiting | Bron | 690007539 | France |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |