Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

Study Description:

The purpose of this study is to evaluate photographs of subjects enrolled in Creatine Natural History Study of Males with Creatine Transporter Deficiency (CTD) based on our observation that many of these subjects have common craniofacial features. This will involve the participation of an outside investigator who has significant expertise in dysmorphology. We seek to determine whether specific dysmorphic features exist in this population.

Objectives:

Primary Objective: To characterize the dysmorphic features in subjects with CTD

• INCLUSION CRITERIA:

• Patient is male and between 2-40 years of age, inclusive.
• Patient has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
• Patient is able to complete study-related procedures within limitations imposed by condition under study.
• Patients parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the patient will provide an assent.

Exclusion criteria

• Patient has had status epilepticus within 3 months of screening.
• Patients has had a seizure that lasts 5 minutes or longer, and a second seizure without recovering consciousness from the first one, or if a person has repeated seizures for 30 minutes or longer.
• Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.