Trial Outcomes & Findings for Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy (NCT NCT00528268)
NCT ID: NCT00528268
Last Updated: 2025-02-28
Results Overview
The number of participants able to achieve specific developmental milestones, such as sitting unsupported or walking independently, during the study period.
Recruitment status
COMPLETED
Study phase
PHASE1/PHASE2
Target enrollment
22 participants
Primary outcome timeframe
24 months
Results posted on
2025-02-28
Participant Flow
Participant milestones
| Measure |
Cohort 1
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.
|
Cohort 2
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 Study
STARTED
|
6
|
8
|
|
Overall Study
COMPLETED
|
5
|
7
|
|
Overall Study
NOT COMPLETED
|
1
|
1
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
Baseline characteristics by cohort
| Measure |
Cohort 1
n=6 Participants
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.
|
Cohort 2
n=8 Participants
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
n=14 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Categorical
<=18 years
|
6 Participants
n=5 Participants
|
8 Participants
n=7 Participants
|
14 Participants
n=5 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Sex: Female, Male
Female
|
2 Participants
n=5 Participants
|
5 Participants
n=7 Participants
|
7 Participants
n=5 Participants
|
|
Sex: Female, Male
Male
|
4 Participants
n=5 Participants
|
3 Participants
n=7 Participants
|
7 Participants
n=5 Participants
|
PRIMARY outcome
Timeframe: 24 monthsThe number of participants able to achieve specific developmental milestones, such as sitting unsupported or walking independently, during the study period.
Outcome measures
| Measure |
Cohort 1
n=6 Participants
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.
|
Cohort 2
n=8 Participants
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.
|
|---|---|---|
|
Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA
Able to sit unsupported
|
1 Participants
|
8 Participants
|
|
Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA
Able to walk independently
|
0 Participants
|
1 Participants
|
Adverse Events
Cohort 1
Serious events: 6 serious events
Other events: 6 other events
Deaths: 0 deaths
Cohort 2
Serious events: 7 serious events
Other events: 8 other events
Deaths: 0 deaths
Serious adverse events
| Measure |
Cohort 1
n=6 participants at risk
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.
|
Cohort 2
n=8 participants at risk
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.
|
|---|---|---|
|
Gastrointestinal disorders
Daily Vomiting
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Gastrointestinal disorders
GE Reflux
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Infections and infestations
Upper Respiratory Infection
|
50.0%
3/6 • Number of events 4
|
0.00%
0/8
|
|
Blood and lymphatic system disorders
Anemia of Chronic Disease
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Respiratory, thoracic and mediastinal disorders
Lung Collapse
|
16.7%
1/6 • Number of events 2
|
0.00%
0/8
|
|
Gastrointestinal disorders
G-tube
|
50.0%
3/6 • Number of events 3
|
25.0%
2/8 • Number of events 2
|
|
Cardiac disorders
Bradycardia
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Respiratory, thoracic and mediastinal disorders
Pneumonia
|
33.3%
2/6 • Number of events 3
|
12.5%
1/8 • Number of events 1
|
|
Gastrointestinal disorders
Failure to swallow
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
General disorders
ALTE
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Nervous system disorders
Nystagmus
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
General disorders
Dehydration
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Gastrointestinal disorders
Gastritis
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Metabolism and nutrition disorders
Metabolic Acidosis
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Gastrointestinal disorders
Recurrent Reflux
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
General disorders
Fever
|
66.7%
4/6 • Number of events 8
|
12.5%
1/8 • Number of events 2
|
|
General disorders
Increased Secretions
|
16.7%
1/6 • Number of events 1
|
12.5%
1/8 • Number of events 1
|
|
General disorders
Death
|
16.7%
1/6 • Number of events 1
|
12.5%
1/8 • Number of events 1
|
|
Investigations
Medication Error
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
General disorders
Lethargy
|
0.00%
0/6
|
25.0%
2/8 • Number of events 2
|
|
Infections and infestations
Foot and Mouth Disese
|
0.00%
0/6
|
12.5%
1/8 • Number of events 2
|
Other adverse events
| Measure |
Cohort 1
n=6 participants at risk
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.
|
Cohort 2
n=8 participants at risk
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.
|
|---|---|---|
|
Infections and infestations
Serous Otitis Media Bilateral
|
66.7%
4/6 • Number of events 6
|
37.5%
3/8 • Number of events 4
|
|
Infections and infestations
Eye Infection
|
16.7%
1/6 • Number of events 1
|
12.5%
1/8 • Number of events 2
|
|
Infections and infestations
Upper Respiratory Infection
|
33.3%
2/6 • Number of events 2
|
37.5%
3/8 • Number of events 4
|
|
Infections and infestations
Flu symptoms
|
33.3%
2/6 • Number of events 2
|
62.5%
5/8 • Number of events 10
|
|
Infections and infestations
Rhinitis
|
33.3%
2/6 • Number of events 2
|
12.5%
1/8 • Number of events 1
|
|
Infections and infestations
Encephalopathy
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
General disorders
Swelling
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Gastrointestinal disorders
Constipation
|
16.7%
1/6 • Number of events 1
|
12.5%
1/8 • Number of events 1
|
|
Infections and infestations
Thrush
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Musculoskeletal and connective tissue disorders
Left Wrist drop
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Respiratory, thoracic and mediastinal disorders
Atelectasis
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Infections and infestations
Cellulitis
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
General disorders
Increased Secretion
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Gastrointestinal disorders
Gasteroenteritis
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Injury, poisoning and procedural complications
Fracture
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Investigations
Increased Heart Rate
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Respiratory, thoracic and mediastinal disorders
Nasal Congestion
|
16.7%
1/6 • Number of events 1
|
25.0%
2/8 • Number of events 2
|
|
Investigations
Spontaneous Drop in Saturations
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Musculoskeletal and connective tissue disorders
Muscle Weakness
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Investigations
Zinc Deficiency
|
16.7%
1/6 • Number of events 1
|
0.00%
0/8
|
|
Gastrointestinal disorders
Reflux
|
0.00%
0/6
|
25.0%
2/8 • Number of events 2
|
|
Infections and infestations
Hand foot mouth disease
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Gastrointestinal disorders
Gastritis
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Infections and infestations
strep throat
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Gastrointestinal disorders
Unable to Eat
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Infections and infestations
Infected Cyst
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Ear and labyrinth disorders
Placement of bilateral ear tubes
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Infections and infestations
H1N1
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
|
Respiratory, thoracic and mediastinal disorders
Pneumonia
|
0.00%
0/6
|
12.5%
1/8 • Number of events 2
|
|
Infections and infestations
Sinus Infection
|
0.00%
0/6
|
25.0%
2/8 • Number of events 2
|
|
Skin and subcutaneous tissue disorders
Rash
|
0.00%
0/6
|
37.5%
3/8 • Number of events 3
|
|
General disorders
Blank Stare
|
0.00%
0/6
|
12.5%
1/8 • Number of events 1
|
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place