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Trial record 2 of 7 for:    shire | Sanfilippo Syndrome A

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

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ClinicalTrials.gov Identifier: NCT01047306
Recruitment Status : Completed
First Posted : January 12, 2010
Results First Posted : March 30, 2016
Last Update Posted : March 30, 2016
Sponsor:
Information provided by (Responsible Party):
Shire

Study Type: Observational
Study Design: Observational Model: Cohort;   Time Perspective: Prospective
Condition: Sanfilippo Syndrome Type A
Intervention: Other: assessment

  Participant Flow

Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
No text entered.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
No text entered.

Reporting Groups
  Description
Children < 6 Years Old Children ≥1 to < 6 years of age with Sanfilippo Syndrome Type A (mucopolysaccharidosis type IIIA; MPS IIIA) who were untreated with any investigational products (drugs and/or devices).
Children ≥ 6 Years Old Children ≥ 6 years of age with Sanfilippo Syndrome Type A (mucopolysaccharidosis type IIIA; MPS IIIA) who were untreated with any investigational products (drugs and/or devices).

Participant Flow:   Overall Study
    Children < 6 Years Old   Children ≥ 6 Years Old
STARTED   19   6 
Discontinued From the Study   3   0 
COMPLETED   16   6 
NOT COMPLETED   3   0 
Withdrawal by Subject                2                0 
Lost to Follow-up                1                0 



  Baseline Characteristics

Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
A maximum of 25 patients with MPS IIIA will be enrolled in the study to provide at least 12 patients who complete the study. This number was not based on any statistical consideration, but is expected to be adequate to describe the natural progression of Sanfilippo A syndrome.

Reporting Groups
  Description
Children < 6 Years Old Children ≥1 to < 6 years of age with MPS IIIA who were untreated with any investigational products (drugs and/or devices).
Children ≥ 6 Years Old Children ≥ 6 years of age with MPS IIIA who were untreated with any investigational products (drugs and/or devices).
Total Total of all reporting groups

Baseline Measures
   Children < 6 Years Old   Children ≥ 6 Years Old   Total 
Overall Participants Analyzed 
[Units: Participants]
 19   6   25 
Age 
[Units: Years]
Mean (Standard Deviation)
 4.29  (1.996)   12.44  (4.500)   6.24  (4.452) 
Gender 
[Units: Participants]
     
Female   6   3   9 
Male   13   3   16 
Region of Enrollment 
[Units: Participants]
     
United States   19   6   25 


  Outcome Measures

1.  Primary:   Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

2.  Primary:   Change From Baseline in BSID-III/KABC-II Developmental Quotient (DQ) Scores   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

3.  Primary:   Change From Baseline in Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

4.  Primary:   Change From Baseline in VABS-II Overall DQ Scores   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

5.  Secondary:   Change From Baseline Values in Gray Matter Volume Assessed by Brain Magnetic Resonance Imaging (MRI)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

6.  Secondary:   Change From Baseline in The Total Disability Score (TDS) of The Four Point Scoring System (FPSS)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

7.  Secondary:   Percent of Participants With an Abnormal Overall Test Result of Auditory Brainstem Response (ABR) at Baseline   [ Time Frame: Baseline ]

8.  Secondary:   Percent of Participants With an Abnormal Overall Test Result of Auditory Brainstem Response (ABR) at 6 Months   [ Time Frame: 6 months ]

9.  Secondary:   Percent of Participants With an Abnormal Overall Test Result of Auditory Brainstem Response (ABR) at 12 Months   [ Time Frame: 12 months ]

10.  Secondary:   Percent of Participants With an Abnormal Overall Test Result of Auditory Brainstem Response (ABR) at End of Study   [ Time Frame: End of Study (12 months assessment or early termination) ]

11.  Secondary:   Percent of Participants With Sensorineural Hearing Loss at Baseline, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: Baseline ]

12.  Secondary:   Percent of Participants With Sensorineural Hearing Loss at 6 Months, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: 6 months ]

13.  Secondary:   Percent of Participants With Sensorineural Hearing Loss at 12 Months, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: 12 months ]

14.  Secondary:   Percent of Participants With Sensorineural Hearing Loss at End of Study, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: End of Study (12 months assessment or early termination) ]

15.  Secondary:   Percent of Participants With Conductive Hearing Loss at Baseline, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: Baseline ]

16.  Secondary:   Percent of Participants With Conductive Hearing Loss at 6 Months, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: 6 months ]

17.  Secondary:   Percent of Participants With Conductive Hearing Loss at 12 Months, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: 12 months ]

18.  Secondary:   Percent of Participants With Conductive Hearing Loss at End of Study, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: End of Study (12 months assessment or early termination) ]

19.  Secondary:   Number of Participants With Mild, Moderate, or Severe Hearing Loss at Baseline, as Assessed by The Auditory Brain Response (ABR)   [ Time Frame: Baseline ]

20.  Secondary:   Number of Participants With Mild, Moderate, or Severe Hearing Loss at 6 Months, as Assessed by The Auditory Brain Response (ABR)   [ Time Frame: 6 months ]

21.  Secondary:   Number of Participants With Mild, Moderate, or Severe Hearing Loss at 12 Months, as Assessed by The Auditory Brain Response (ABR)   [ Time Frame: 12 months ]

22.  Secondary:   Number of Participants With Mild, Moderate, or Severe Hearing Loss at End of Study, as Assessed by The Auditory Brain Response (ABR)   [ Time Frame: End of Study (12 months assessment or early termination) ]

23.  Secondary:   Percent of Participants With Profound Hearing Loss, as Assessed by the Auditory Brainstem Response (ABR)   [ Time Frame: Baseline, 6 months, 12 months, End of Study (Month 24 assessment or early termination) ]

24.  Secondary:   Number of Participants With "Somewhat" or "Much" Worse Change in Health as Assessed by The Child Health Questionnaire Parent Form 50 (CHQ-PF50)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

25.  Secondary:   Change From Baseline in The Infant Toddler Quality of Life Questionnaire (ITQoL) Growth And Development Subscale   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

26.  Secondary:   Change From Baseline in The Total Sleep Disturbance (TSD) Score of The Children’s Sleep Habits Questionnaire (CSHQ)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

27.  Other Pre-specified:   Change From Baseline in Urine Glycosaminoglycan (GAG) Levels   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

28.  Other Pre-specified:   Change From Baseline in Total Tau Levels in Cerebrospinal Fluid (CSF)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

29.  Other Pre-specified:   Change From Baseline in Phosphorylated Tau Levels in Cerebrospinal Fluid (CSF)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

30.  Post-Hoc:   Percent of Participants With Thickened Heart Valves as Assessed by Echocardiography (ECG)   [ Time Frame: 12 months ]

31.  Post-Hoc:   Percent of Participants With Trace Regurgitation as Assessed by ECG   [ Time Frame: 12 months ]

32.  Post-Hoc:   Change From Baseline in Tricuspid Valve Regurgitant Velocity   [ Time Frame: Baseline, 6 months, 12 months, End of Study (Month 24 assessment or early termination) ]

33.  Post-Hoc:   Change From Baseline in The Ratio of Mitral Valve Early Inflow Velocity (E) to Late Inflow Velocity (A)   [ Time Frame: Baseline, 6 months, 12 months, End of Study (Month 24 assessment or early termination) ]

34.  Post-Hoc:   Change From Baseline in Liver Volume as Assessed by Abdominal Magnetic Resonance Imaging (MRI)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]

35.  Post-Hoc:   Change From Baseline in Spleen Volume as Assessed by Abdominal Magnetic Resonance Imaging (MRI)   [ Time Frame: Baseline, 6 months, 12 months, and End of Study (Month 24 assessment or early termination) ]


  Serious Adverse Events

Time Frame No text entered.
Additional Description No text entered.

Reporting Groups
  Description
Children < 6 Years Patients ≥1 to < 6 years of age with MPS IIIA who were untreated with any investigational products (drugs and/or devices).
Children ≥ 6 Years Patients ≥ 6 years of age with MPS IIIA who were untreated with any investigational products (drugs and/or devices).

Serious Adverse Events
    Children < 6 Years   Children ≥ 6 Years
Total, Serious Adverse Events     
# participants affected / at risk   0/19 (0.00%)   0/6 (0.00%) 




  Other Adverse Events


  Limitations and Caveats

Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
No text entered.


  More Information

Certain Agreements:  
Principal Investigators are NOT employed by the organization sponsoring the study.
There IS an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
The agreement is:
unchecked The only disclosure restriction on the PI is that the sponsor can review results communications prior to public release and can embargo communications regarding trial results for a period that is less than or equal to 60 days. The sponsor cannot require changes to the communication and cannot extend the embargo.
unchecked The only disclosure restriction on the PI is that the sponsor can review results communications prior to public release and can embargo communications regarding trial results for a period that is more than 60 days but less than or equal to 180 days. The sponsor cannot require changes to the communication and cannot extend the embargo.


Results Point of Contact:  
Name/Title: Study Physician
Organization: Shire Development LLC
phone: +1 866 842 5335


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
First Submitted: January 11, 2010
First Posted: January 12, 2010
Results First Submitted: February 9, 2015
Results First Posted: March 30, 2016
Last Update Posted: March 30, 2016