14 studies were found.

1.		Recruiting	Study of Proteus Syndrome and Related Congenital Disorders Conditions: Growth Disorder; Mental Retardation; Multiple Abnormalies
2.		Recruiting	Study of Smith-Lemli-Opitz Syndrome Conditions: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome
3.		Not yet recruiting	Dextromethorphan and Donepezil Hydrochloride for Rett Syndrome Condition: Rett Syndrome
4.		Recruiting	Effects of CX516 on Functioning in Fragile X Syndrome and Autism Conditions: Fragile X Syndrome; Autism
5.		Not yet recruiting	Study of Bile Acids in Patients With Peroxisomal Disorders Conditions: Infantile Refsum's Disease; Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy
6.		Recruiting	Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children with Adrenoleukodystrophy Condition: Adrenoleukodystrophy
7.		Recruiting	Copper Histidine Therapy for Menkes Diseases Condition: Kinky Hair Syndrome
8.		Recruiting	Molecular Analysis of Microphthalmia/Anophthalmia Condition: Anophthalmos
9.		Recruiting	Treatment of Self-Injurious Behavior in Individuals with Prader-Willi Syndrome Conditions: Prader-Willi Syndrome; Self-Injurious Behavior
10.		Recruiting	Vitamin E in Aging Persons With Down Syndrome Conditions: Down Syndrome; Alzheimer Disease
11.		Recruiting	Brain Study of Patients with Frontal Lobe Dementia and Parkinsonian Disorders Conditions: Alzheimer's Disease; Dementia; Down's Syndrome
12.		Recruiting	Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Condition: Lipoidosis
13.		Recruiting	Cause and Pathogenesis of Neurometabolic Disorders Condition: Neurodegenerative Disease
14.		Recruiting	Effects of Enzyme Replacement in Gaucher's Disease Condition: Gaucher's Disease