Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A

Phase 1

• Conditions: Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA); MedDRA version: 17.1Level: LLTClassification code 10056918Term: Sanfilippo's syndromeSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; MedDRA version: 17.1Level: PTClassification code 10056890Term: Mucopolysaccharidosis IIISystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2013-003450-24-DE
• Lead Sponsor: Shire Human Genetic Therapies, Inc

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2013-11-07
• Last Update Posted: 5 December 2016

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 18

Inclusion Criteria

Patients must meet all of the following criteria to be considered eligible for enrollment:
1. Documented MPS IIIA diagnosis:
a) All patients must show a documented deficiency in sulfamidase enzyme activity consistent with a diagnosis of MPS IIIA
AND
b) Patients must show documented mutations in each SGSH allele OR there must be documentation of mutations in each SGSH allele in a sibling affected by MPSIIIA, provided parental consent is obtained to use this information.
2. Age =12 months and = 48 months
3. The patient has a DQ score =60%, assessed by cognitive evaluation at screening assessment using the BSID-III
4. The patient is medically stable, in the opinion of the Investigator, and able to accommodate the protocol requirements, including travel, assessments, and IDDD surgery, without placing an undue burden on the patient/patient's family
5. The patient’s parent(s) or legal guardian must have voluntarily signed an Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient’s parent(s), or legal guardian. Consent of the patient’s parent(s) or legally authorized guardian(s) must be obtained prior to the start of any study procedures.

Are the trial subjects under 18? yes
Number of subjects for this age range: 18
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Patients will be excluded from the study if any of the following criteria are met at screening:
1. The presence of significant non-MPS IIIA related central nervous system (CNS) impairment or behavioral disturbances that would confound the scientific integrity or interpretation of study assessments, as determined by the Investigator.
2. The presence of at least one S298P mutation in SGSH, associated with
attenuated disease OR there is documentation of the S298P mutation in
a sibling affected by MPS IIIA, provided parental consent is obtained to
use this information.
3. The presence of relatively attenuated MPS IIIA disease in an older sibling, defined as preservation of any comprehensible speech beyond the age of 10 years
4. Visual or hearing impairment, in the clinical judgement of the investigator, sufficient to preclude cooperation with neurodevelopmental testing.
5. In the opinion of the Investigator, the patient is assessed as having an unacceptably high risk for anesthesia due to airway compromise, drug hypersensitivity, or other conditions (such as neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns).
6. The patient has a history of poorly controlled seizure disorder.
7. The patient is currently receiving psychotropic or other medications, which in the Investigator’s opinion would be likely to substantially confound test results.
8. The patient has a history of bleeding disorder or is unable to abstain from medications that, in the opinion of the investigator, place them at risk of bleeding following surgery or lumbar puncture..
9. The patient participated in a clinical trial of another investigational medicinal product, within the 30 days prior to the study (or within 5 elimination half lives of the investigational product), or is currently enrolled in another study that involves an investigational drug or device. NOTE: Nutritional supplements, including genistein are permitted if they are taken or administered outside the context of a formal investigation.
10. The patient has received a hematopoietic stem cell or bone marrow transplant, or gene therapy.
11. The patient has a condition that is contraindicated as described in the SOPH-A-PORT Mini S IDDD Instructions for Use, including:
a) The patient has had an allergic reaction to the materials of construction of the SOPH-A-PORT Mini S device
b) The patient’s body size is too small to support the size of the SOPH-A-PORT Mini S Access Port, as judged by the Investigator
c) The patient has a known or suspected local or general infection
d) The patient has one or more spinal abnormalities that could complicate safe implantation or fixation
e) The patient has a functioning CSF shunt device
f) The patient has shown an intolerance to an implanted device
12. The patient’s parent(s) or patient’s legal guardian(s) is/are unable to understand the nature, scope, and possible consequences of the study, or do/does not agree to comply with the protocol defined schedule of assessments.
13. The patient is unable to comply with the protocol (eg, has a clinically relevant medical condition making implementation of the protocol difficult, unstable social situation, or otherwise unlikely to complete the study) or is, in the opinion of the Investigator, otherwise unsuited for the study.
14. The patient has any item (braces, tattoos, etc.) which would exclude the patient from being able to undergo MRI according to local Institutional

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified