Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome
About this trial
This is an interventional treatment trial for Phelan-McDermid Syndrome
Eligibility Criteria
Inclusion criteria:
- Have a diagnosis of Phelan-McDermid syndrome defined by pathogenic deletion or mutation of the SHANK3 gene and confirmed by chromosomal microarray or sequencing.
- Must be between the ages of 5 and 17
- Must be on stable medication and psychosocial therapy regimens for at least three months prior to enrollment
Exclusion criteria:
- Allergy to oxytocin
- Active cardiovascular disease, epilepsy, or renal disease that is not controlled by medication
- Pregnant, lactating or refuse to practice contraception if sexually active
- Have caretakers who are unable to speak English, be consistently present at visits to report on symptoms, or are otherwise judged unable to comply with the protocol by the study team
- Comorbid conditions such that the patient is too medically compromised to participate
Sites / Locations
- Icahn School of Medicine at Mount Sinai
Arms of the Study
Arm 1
Arm 2
Experimental
Placebo Comparator
Oxytocin
Saline
The first phase of the study will follow a double-blind, placebo-controlled design. Participants randomized to the experimental group will receive intranasal oxytocin in doses of 24 IU, two times daily, for a total of 48 IU. Doses may be reduced by 8 IU/day if safety concerns emerge. During the second phase of the study, all participants will receive oxytocin, in identical doses.
During the first phase, patients randomized to the placebo group will receive intranasal saline solution in doses of 24 IU two times daily, for a total of 48 IU. During the second phase of the study, all participants will receive oxytocin, in identical doses.