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Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy (STOPSMA)

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ClinicalTrials.gov Identifier: NCT00528268
Recruitment Status : Completed
First Posted : September 12, 2007
Results First Posted : July 3, 2015
Last Update Posted : July 3, 2015
Sponsor:
Collaborator:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Kathryn Swoboda, University of Utah

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Condition Spinal Muscular Atrophy
Intervention Drug: Sodium phenylbutyrate (NaPB)
Enrollment 14
Recruitment Details  
Pre-assignment Details  
Arm/Group Title Cohort 1 Cohort 2
Hide Arm/Group Description

Family history of SMA type I 0-3 months old Confirmation of no more than 3 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Family history of SMA type II 0-6 months old Confirmation of no more than 4 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Period Title: Overall Study
Started 6 8
Completed 5 7
Not Completed 1 1
Arm/Group Title Cohort 1 Cohort 2 Total
Hide Arm/Group Description

Family history of SMA type I 0-3 months old Confirmation of no more than 3 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Family history of SMA type II 0-6 months old Confirmation of no more than 4 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Total of all reporting groups
Overall Number of Baseline Participants 6 8 14
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 8 participants 14 participants
<=18 years
6
 100.0%
8
 100.0%
14
 100.0%
Between 18 and 65 years
0
   0.0%
0
   0.0%
0
   0.0%
>=65 years
0
   0.0%
0
   0.0%
0
   0.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 8 participants 14 participants
Female
2
  33.3%
5
  62.5%
7
  50.0%
Male
4
  66.7%
3
  37.5%
7
  50.0%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 6 participants 8 participants 14 participants
6 8 14
1.Primary Outcome
Title The Study Will Assess the Safety, Tolerability and Potential Efficacy of Sodium Phenylbutyrate (NaPB) in Presymptomatic Infants Genetically Confirmed to Have SMA. It Will Also Determine Selected Pharmacokinetic Parameters.
Hide Description Number of participants with SAE's related to research.
Time Frame 24 months
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Cohort 1 Cohort 2
Hide Arm/Group Description:

Family history of SMA type I 0-3 months old Confirmation of no more than 3 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Family history of SMA type II 0-6 months old Confirmation of no more than 4 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Overall Number of Participants Analyzed 6 8
Measure Type: Number
Unit of Measure: participants
2 3
2.Secondary Outcome
Title The Study Will Determine Potential Benefit of NaPB on Lean Body Mass; Overall Motor Function; Potential Cellular Response to NaPB; and Drug Compliance.
Hide Description [Not Specified]
Time Frame 24 months
Outcome Measure Data Not Reported
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Cohort 1 Cohort 2
Hide Arm/Group Description

Family history of SMA type I 0-3 months old Confirmation of no more than 3 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

Family history of SMA type II 0-6 months old Confirmation of no more than 4 SMN2 copies

Sodium phenylbutyrate (NaPB): The powder form of the drug will be dispensed. The target NaPB dosing is 450-600 mg/kg/day, divided into four doses. For cohort 1, we propose to continue treatment for 18 months. For cohort 2, we propose to continue treatment for 24 months.

All-Cause Mortality
Cohort 1 Cohort 2
Affected / at Risk (%) Affected / at Risk (%)
Total   --/--      --/--    
Show Serious Adverse Events Hide Serious Adverse Events
Cohort 1 Cohort 2
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   6/6 (100.00%)      7/8 (87.50%)    
Blood and lymphatic system disorders     
Anemia of Chronic Disease  1/6 (16.67%)  1 0/8 (0.00%)  0
Cardiac disorders     
Bradycardia  1/6 (16.67%)  1 0/8 (0.00%)  0
Gastrointestinal disorders     
Daily Vomiting  0/6 (0.00%)  0 1/8 (12.50%)  1
GE Reflux  1/6 (16.67%)  1 0/8 (0.00%)  0
G-tube  3/6 (50.00%)  3 2/8 (25.00%)  2
Failure to swallow  1/6 (16.67%)  1 0/8 (0.00%)  0
Gastritis  1/6 (16.67%)  1 0/8 (0.00%)  0
Recurrent Reflux  1/6 (16.67%)  1 0/8 (0.00%)  0
General disorders     
ALTE  1/6 (16.67%)  1 0/8 (0.00%)  0
Dehydration  1/6 (16.67%)  1 0/8 (0.00%)  0
Fever  4/6 (66.67%)  8 1/8 (12.50%)  2
Increased Secretions  1/6 (16.67%)  1 1/8 (12.50%)  1
Death  1/6 (16.67%)  1 1/8 (12.50%)  1
Lethargy  0/6 (0.00%)  0 2/8 (25.00%)  2
Infections and infestations     
Upper Respiratory Infection  3/6 (50.00%)  4 0/8 (0.00%)  0
Foot and Mouth Disese  0/6 (0.00%)  0 1/8 (12.50%)  2
Investigations     
Medication Error  0/6 (0.00%)  0 1/8 (12.50%)  1
Metabolism and nutrition disorders     
Metabolic Acidosis  1/6 (16.67%)  1 0/8 (0.00%)  0
Nervous system disorders     
Nystagmus  1/6 (16.67%)  1 0/8 (0.00%)  0
Respiratory, thoracic and mediastinal disorders     
Lung Collapse  1/6 (16.67%)  2 0/8 (0.00%)  0
Pneumonia  2/6 (33.33%)  3 1/8 (12.50%)  1
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Cohort 1 Cohort 2
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   6/6 (100.00%)      8/8 (100.00%)    
Ear and labyrinth disorders     
Placement of bilateral ear tubes  0/6 (0.00%)  0 1/8 (12.50%)  1
Gastrointestinal disorders     
Constipation  1/6 (16.67%)  1 1/8 (12.50%)  1
Gasteroenteritis  1/6 (16.67%)  1 0/8 (0.00%)  0
Reflux  0/6 (0.00%)  0 2/8 (25.00%)  2
Gastritis  0/6 (0.00%)  0 1/8 (12.50%)  1
Unable to Eat  0/6 (0.00%)  0 1/8 (12.50%)  1
General disorders     
Swelling  1/6 (16.67%)  1 0/8 (0.00%)  0
Increased Secretion  1/6 (16.67%)  1 0/8 (0.00%)  0
Blank Stare  0/6 (0.00%)  0 1/8 (12.50%)  1
Infections and infestations     
Serous Otitis Media Bilateral  4/6 (66.67%)  6 3/8 (37.50%)  4
Eye Infection  1/6 (16.67%)  1 1/8 (12.50%)  2
Upper Respiratory Infection  2/6 (33.33%)  2 3/8 (37.50%)  4
Flu symptoms  2/6 (33.33%)  2 5/8 (62.50%)  10
Rhinitis  2/6 (33.33%)  2 1/8 (12.50%)  1
Encephalopathy  1/6 (16.67%)  1 0/8 (0.00%)  0
Thrush  1/6 (16.67%)  1 0/8 (0.00%)  0
Cellulitis  1/6 (16.67%)  1 0/8 (0.00%)  0
Hand foot mouth disease  0/6 (0.00%)  0 1/8 (12.50%)  1
strep throat  0/6 (0.00%)  0 1/8 (12.50%)  1
Infected Cyst  0/6 (0.00%)  0 1/8 (12.50%)  1
H1N1  0/6 (0.00%)  0 1/8 (12.50%)  1
Sinus Infection  0/6 (0.00%)  0 2/8 (25.00%)  2
Injury, poisoning and procedural complications     
Fracture  1/6 (16.67%)  1 0/8 (0.00%)  0
Investigations     
Increased Heart Rate  1/6 (16.67%)  1 0/8 (0.00%)  0
Spontaneous Drop in Saturations  1/6 (16.67%)  1 0/8 (0.00%)  0
Zinc Deficiency  1/6 (16.67%)  1 0/8 (0.00%)  0
Musculoskeletal and connective tissue disorders     
Left Wrist drop  1/6 (16.67%)  1 0/8 (0.00%)  0
Muscle Weakness  1/6 (16.67%)  1 0/8 (0.00%)  0
Respiratory, thoracic and mediastinal disorders     
Atelectasis  1/6 (16.67%)  1 0/8 (0.00%)  0
Nasal Congestion  1/6 (16.67%)  1 2/8 (25.00%)  2
Pneumonia  0/6 (0.00%)  0 1/8 (12.50%)  2
Skin and subcutaneous tissue disorders     
Rash  0/6 (0.00%)  0 3/8 (37.50%)  3
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Dr. Kathryn Swoboda
Organization: University of Utah
Phone: 801-585-9717
EMail: swoboda@genetics.utah.edu
Layout table for additonal information
Responsible Party: Kathryn Swoboda, University of Utah
ClinicalTrials.gov Identifier: NCT00528268     History of Changes
Other Study ID Numbers: 22183
1R01HD054599-01 ( U.S. NIH Grant/Contract )
First Submitted: September 10, 2007
First Posted: September 12, 2007
Results First Submitted: June 14, 2015
Results First Posted: July 3, 2015
Last Update Posted: July 3, 2015