A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT01047306
First received: January 11, 2010
Last updated: March 6, 2014
Last verified: March 2014
  Purpose

The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including standardized clinical, biochemical, neurocognitive, behavioral, developmental, and imaging measures.


Condition Intervention
Sanfilippo Syndrome Type A
Other: assessment

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Longitudinal, Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • To evaluate the course of disease progression in patients with MPS IIIA who are untreated with any investigational products to inform possible future treatment studies [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

CSF, urine and serum


Enrollment: 25
Study Start Date: April 2010
Study Completion Date: July 2013
Primary Completion Date: July 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
No Treatment
This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIA to identify potential surrogate endpoints for future ERT trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures.
Other: assessment
Physical, developmental, neurological, behavioral, and neurocognitive assessments

Detailed Description:

The purpose of this longitudinal, prospective, observational, natural history study of patients with MPS IIIA is to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including standardized clinical, biochemical, neurocognitive, behavioral, developmental, and imaging measures.

  Eligibility

Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Initial patient eligibility will be based on patient age and on a confirmed diagnosis of MPS IIIA by biochemical enzyme assay.

Criteria

Inclusion Criteria:

1a. Documented deficiency in HNS enzyme activity of less than or equal to 10% of the lower limit of the normal range as measured in fibroblasts or leukocytes (based on normal range for diagnosis of MPS IIIA by a laboratory that is acceptable to Shire HGT).

AND

1b. Normal enzyme activity level of at least one other sulfatase (to rule out multiple sulfatase deficiency) as measured in fibroblasts or leukocytes (based on normal range by a laboratory that is acceptable to Shire HGT).

2.Patient is greater than or equal to 1 year of age and developmental age greater than or equal to 1 year.

3. Patient is medically stable to accommodate the protocol requirements, including travel and assessments, without placing an undue burden on the patient/patient's family.

4. Voluntarily signed an IRB/IEC-approved informed consent (assent if applicable) form. The patient's, patient's parents or legally authorized representative(s) consent and patient's assent as appropriate, must be obtained.

Exclusion Criteria:

  1. Patient has significant non-MPS IIIA-related CNS impairment or behavioral disturbances, which would confound the scientific integrity or interpretation of study assessments, as determined by the investigator.
  2. Patients who, for MPS IIIA behavioral-related reasons,in the opinion of the investigator, would preclude performance of study neurocognitive and developmental testing procedures.
  3. Patients who are pregnant, breast feeding, or female patients of childbearing potential, who will not or cannot comply with the use of an acceptable method of birth control such as condoms, barrier method, oral contraception, etc.
  4. Patient is blind and/or deaf.
  5. Patient has any known or suspected hypersensitivity to anesthesia or is thought to be at an unacceptably high risk for anesthesia due to airway compromise or other conditions.
  6. Patient or patient family history of neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns.
  7. The Investigator may choose to exclude patients who have had complications resulting from prior lumbar punctures.
  8. Patient history of poorly controlled seizure disorder.
  9. Patient history of an intracranial pressure (ICP) or opening CSF pressure upon lumbar puncture that exceeds 30 cm water that has not been definitively treated.
  10. Patient is currently receiving psychotropic or other medications which in the investigator's opinion, would be likely to substantially confound test results.
  11. Patient cannot sustain absence from aspirin, non-steroidals, or medications that affect blood clotting within 1 week prior to a relevant study related procedure (eg, lumbar puncture if applicable), or has ingested such medications within 1 week before any procedures in which any change in clotting activity would be deleterious.
  12. Patient has received treatment with any investigational drug or device intended as a treatment for MPS IIIA within the 30 days prior to, or during the study, or is currently enrolled in another study that involves an investigational drug or device (enrollment through Safety follow-up contact).
  13. Patient has received a hematopoietic stem cell or bone marrow transplant.
  14. Patient's assent is unattainable, or the patient's parent(s), or patient's legally authorized representative(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.
  15. The patient has any item (braces, tattoos, etc.) which would exclude the patient from being able to undergo MRI according to local Institutional Policy, or the patient has any other situation that would exclude the patient from undergoing any other procedure required in this study.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01047306

Locations
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
Shire
Investigators
Study Director: Patrick Haslett, MD Shire Human Genetic Therapies, Inc.
  More Information

No publications provided by Shire

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01047306     History of Changes
Other Study ID Numbers: HGT-SAN-053
Study First Received: January 11, 2010
Last Updated: March 6, 2014
Health Authority: United States:Research Ethics Board

Additional relevant MeSH terms:
Mucopolysaccharidosis III
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases

ClinicalTrials.gov processed this record on July 31, 2014