Page last updated: 2024-10-16

betaine and Angelman Syndrome

betaine has been researched along with Angelman Syndrome in 3 studies

glycine betaine : The amino acid betaine derived from glycine.

Angelman Syndrome: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	3 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Han, J	1
Bichell, TJ	2
Golden, S	1
Anselm, I	2
Waisbren, S	2
Bacino, CA	2
Peters, SU	2
Bird, LM	2
Kimonis, V	2
Dos Santos, JF	1
Mota, LR	1
Rocha, PH	1
Ferreira de Lima, RL	1
Glaze, DG	1
Shinawi, LM	1
Barbieri-Welge, R	1
Nespeca, M	1
Sanborn, E	1
Sun, Q	1
O'Brien, WE	1
Beaudet, AL	1

Clinical Trials (1)

Trial Overview

Trial			Phase	Enrollment	Study Type	Start Date	Status
Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome[NCT00348933]				90 participants (Actual)	Interventional	2006-07-31	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Change in RBC Folate

(NCT00348933)
Timeframe: Baseline, 1 year

Intervention	ng/mL (Mean)
Treatment (Metafolin/Creatine/Betaine/B12)	77

Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills

"Primary:~Bayley Scales of Infant Development measures Mental Developmental Index standard scores 0 (least skilled) - 100 (most skilled) Psychomotor Developmental Index standard scores 0 (least skilled - 10 (most skilled) Vineland Adaptive Behavior Scales (VABS), Communication standard scores 0 (least skilled) - 100 (most skilled) Daily Living Skills standard scores 0 (least skilled) - 100 (most skilled) Socialization standard scores 0 (least skilled) - 100 (most skilled) Motor Skills standard scores 0 (least skilled) - 100 (most skilled) Preschool Language Scale (PLS), Auditory Comprehension 0 (least skilled) - 100 (most skilled) Expressive Communication 0 (least skilled) - 100 (most skilled)" (NCT00348933)
Timeframe: Baseline, 1 year

Intervention	units on a scale (Mean)
	Bayley Scales Mental Developmental Index	Bayley Scales Psychomotor Developmental Index	VABS Communication	VABS Daily Living Skills	VABS Socialization	VABS Motor Skills	PLS Auditory Comprehension	PLS Expressive Communication
Treatment (Metafolin/Creatine/Betaine/B12)	5.7	4.7	5.8	3.7	4.7	2.0	2.0	5.5

Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine.

(NCT00348933)
Timeframe: Baseline, 1 year

Intervention	mmol/L (Mean)
	Betaine	Creatine	Dimethylglycine	Guanidinoacetate	Homocysteine	Methionine
Treatment (Metafolin/Creatine/Betain/B12)	206.9	83.3	93.7	0.11	2.3	5.5

Trials

2 trials available for betaine and Angelman Syndrome

Article	Year
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet journal of rare diseases, 2019, 10-22, Volume: 14, Issue:1 Topics: Angelman Syndrome; Betaine; Child; Double-Blind Method; Folic Acid; Gastrointestinal Agents; Humans;	2019
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:8 Topics: Adolescent; Angelman Syndrome; Betaine; Child; Child, Preschool; Chromosomes, Human, Pair 15; DNA Me	2010

Other Studies

1 other study available for betaine and Angelman Syndrome

Article	Year
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. Molecular biology reports, 2016, Volume: 43, Issue:11 Topics: Angelman Syndrome; Betaine; Chromosomes, Human, Pair 15; DNA Methylation; Genomic Imprinting; Humans	2016