## Protocol Section
### Identification Module
**NCT ID:** NCT02090179

**Brief Title:** Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging

**Official Title:** Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging

#### Organization Study ID Info
**ID:** NGLU-CL01
#### Organization
**Class:** INDUSTRY
**Full Name:** Alexion Pharmaceuticals, Inc.
#### Secondary ID Infos
**ID:** 2013-001938-18
**Type:** EUDRACT_NUMBER
### Status Module
#### Completion Date
**Date:** 2014-05

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2016-06-27

**Type:** ESTIMATED

**Last Update Submit Date:** 2016-06-23

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2014-05

**Type:** ACTUAL

#### Start Date
**Date:** 2013-12

**Status Verified Date:** 2016-06

#### Study First Post Date
**Date:** 2014-03-18
**Type:** ESTIMATED
**Study First Submit Date:** 2014-03-12
**Study First Submit QC Date:** 2014-03-14
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** INDUSTRY

**Name:** Alexion Pharmaceuticals, Inc.

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**Brief Summary:** The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).

### Conditions Module

**Conditions:**

- MPS IIIB (Sanfilippo B Syndrome)

**Keywords:**

- MPS IIIB

- Mucopolysaccharidosis

- Mucopolysaccharidosis type IIIB

- Sanfilippo Syndrome

- Metabolism, Inborn Errors

- Metabolic Diseases

- Genetic Diseases, Inborn

### Design Module

#### Design Info

**Observational Model:** CASE_ONLY

**Time Perspective:** PROSPECTIVE

#### Enrollment Info

**Count:** 5

**Type:** ACTUAL

**Study Type:** OBSERVATIONAL

### Arms Interventions Module

#### Arm Group 1

**Description:** Those with a definitive diagnosis of MPS IIIB (Sanfilippo B Syndrome).

**Label:** MPS IIIB

### Outcomes Module

#### Primary Outcomes

**Description:** Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.

**Measure:** Blood Brain Barrier integrity in MPS IIIB subjects

**Time Frame:** Day 0

**Description:** The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.

**Measure:** Blood Brain Barrier transfer coefficient

**Time Frame:** Day 0

#### Secondary Outcomes

**Description:** Structural brain abnormalities in MPS IIIB using imaging and biomarkers related to underlying disease biology of MPS IIIB subjects

**Measure:** Structural brain abnormalities in MPS IIIB

**Time Frame:** Day 0

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* Subject and/or subject's parent or legal guardian provides informed consent
* Subject is ≥5 years of age.
* Subject has a definitive diagnosis of MPS IIIB, as determined by either a documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity or documented functionally-relevant mutations in both alleles of the NAGLU gene.

Exclusion Criteria:

* The subject has any internal or non-removable external metal items that may present a safety risk (for MRI), or any other medical condition or circumstance in which an MRI is contraindicated.
* The subject has a known or suspected hypersensitivity to anaesthesia, a bleeding disorder, or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated.
* Previous allergic reaction to gadolinium-based MRI contrast media.

**Minimum Age:** 5 Years

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

**Study Population:** Up to six subjects with MPS IIIB. An attempt will be made to enroll equal numbers (three) of MPS IIIB subjects with a classic (severe) disease presentation, and MPS IIIB subjects with an attenuated phenotype.

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Birmingham

**Country:** United Kingdom

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000009083

- Term: Mucopolysaccharidoses

- ID: D000002239

- Term: Carbohydrate Metabolism, Inborn Errors

- ID: D000008661

- Term: Metabolism, Inborn Errors

- ID: D000030342

- Term: Genetic Diseases, Inborn

- ID: D000016464

- Term: Lysosomal Storage Diseases

- ID: D000017520

- Term: Mucinoses

- ID: D000003240

- Term: Connective Tissue Diseases

- ID: D000008659

- Term: Metabolic Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: All

- Name: All Conditions

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC17

- Name: Skin and Connective Tissue Diseases

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M16355

- Name: Syndrome

- Relevance: LOW

- As Found: Unknown

- ID: M11639

- Name: Metabolic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M12

- Name: Congenital Abnormalities

- Relevance: LOW

- As Found: Unknown

- ID: M12041

- Name: Mucopolysaccharidoses

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M11641

- Name: Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M12042

- Name: Mucopolysaccharidosis III

- Relevance: HIGH

- As Found: MPS IIIB

- ID: M5498

- Name: Carbohydrate Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M18871

- Name: Lysosomal Storage Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M19781

- Name: Mucinoses

- Relevance: LOW

- As Found: Unknown

- ID: M6464

- Name: Connective Tissue Diseases

- Relevance: LOW

- As Found: Unknown

- ID: T3901

- Name: Mucopolysaccharidosis

- Relevance: LOW

- As Found: Unknown

- ID: T3904

- Name: Mucopolysaccharidosis Type III

- Relevance: LOW

- As Found: Unknown

- ID: T3906

- Name: Mucopolysaccharidosis Type IIIB

- Relevance: HIGH

- As Found: MPS IIIB

### Condition Browse Module - Meshes

- ID: D000009084

- Term: Mucopolysaccharidosis III

### Misc Info Module

- Version Holder: 2024-05-24
