Trial Outcomes & Findings for Betaine and Peroxisome Biogenesis Disorders (NCT NCT01838941)

NCT ID: NCT01838941

Last Updated: 2016-06-28

Results Overview

C26/C22 ratio in plasma is a recognized biomarker for very long chain fatty acid (normal range: 0.002-0.018). It was measured twice before the beginning of treatment and measured once at the end.

• Recruitment status: COMPLETED
• Study phase: PHASE3
• Target enrollment: 12 participants
• Primary outcome timeframe: 6 months
• Results posted on: 2016-06-28

Participant Flow

Participant milestones

Measure	Betaine Betaine will be given orally to all participants and dose will be adjusted to body weight. Betaine: Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).
Overall Study STARTED	12
Overall Study COMPLETED	10
Overall Study NOT COMPLETED	2

Reasons for withdrawal

Measure	Betaine Betaine will be given orally to all participants and dose will be adjusted to body weight. Betaine: Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).
Overall Study Adverse Event	1
Overall Study Withdrawal by Subject	1

Baseline Characteristics

Betaine and Peroxisome Biogenesis Disorders

Baseline characteristics by cohort

Measure	Betaine n=12 Participants Betaine will be given orally to all participants and dose will be adjusted to body weight. Betaine: Betaine given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).
Age, Categorical <=18 years	11 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	1 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Age, Continuous	4.75 years n=5 Participants
Sex: Female, Male Female	7 Participants n=5 Participants
Sex: Female, Male Male	5 Participants n=5 Participants
Region of Enrollment Canada	2 participants n=5 Participants
Region of Enrollment United States	10 participants n=5 Participants
Mutation status PEX1 G843D homozygous mutation	2 participants n=5 Participants
Mutation status PEX1 G843D/null mutations	10 participants n=5 Participants

PRIMARY outcome

Timeframe: 6 months

C26/C22 ratio in plasma is a recognized biomarker for very long chain fatty acid (normal range: 0.002-0.018). It was measured twice before the beginning of treatment and measured once at the end.

Outcome measures

Measure	Betaine n=10 Participants Betaine will be given orally to all participants and dose will be adjusted to body weight. Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).
Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid Baseline	0.180 ratio Interval 0.027 to 0.301
Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid At 6 months	0.188 ratio Interval 0.059 to 0.286

SECONDARY outcome

Timeframe: 6 months

Population: The Denver Developmental Screening Test was not performed.

Denver Developmental Screening Test expressed in years and months.

Outcome measures

Outcome data not reported

Adverse Events

Betaine

Serious events: 0 serious events

Other events: 12 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Measure	Betaine n=12 participants at risk Betaine will be given orally to all participants and dose will be adjusted to body weight. Betaine: Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).
Gastrointestinal disorders Diarrhea	16.7% 2/12 • Number of events 3
Skin and subcutaneous tissue disorders Change in body odor (skin, urine, and/or breath)	25.0% 3/12 • Number of events 4
General disorders Dry mouth	8.3% 1/12 • Number of events 1
Respiratory, thoracic and mediastinal disorders Croup	8.3% 1/12 • Number of events 1
General disorders Fatigue	25.0% 3/12 • Number of events 3
Respiratory, thoracic and mediastinal disorders Respiratory tract infection	16.7% 2/12 • Number of events 2
Gastrointestinal disorders Gas	8.3% 1/12 • Number of events 1
Gastrointestinal disorders Constipation	33.3% 4/12 • Number of events 4
Gastrointestinal disorders Vomiting	8.3% 1/12 • Number of events 1
Ear and labyrinth disorders Ear infection/Otitis media	16.7% 2/12 • Number of events 9
Nervous system disorders Increase in seizure activity	8.3% 1/12 • Number of events 1
Gastrointestinal disorders Decreased appetite	16.7% 2/12 • Number of events 2
Gastrointestinal disorders Upset stomach	8.3% 1/12 • Number of events 1
Infections and infestations Viral syndrome	25.0% 3/12 • Number of events 4
Investigations Elevated INR levels	8.3% 1/12 • Number of events 1
Eye disorders Eye discharge	8.3% 1/12 • Number of events 1
Nervous system disorders Febrile seizure	8.3% 1/12 • Number of events 2

Additional Information

Dr. Nancy Braverman, Associate Professor, Human Genetics and Pediatrics

McGill University Health Centre

Phone: (514) 934-1934

Email: nancy.braverman@mcgill.ca

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place