Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Alexander Kolevzon

Status and phase: Completed; Phase 2

Conditions: Phelan-McDermid Syndrome

Treatments: Drug: Saline; Drug: Oxytocin

Study type: Interventional

Funder types: Other

Identifiers

NCT02710084

GCO 15-1223

Details and patient eligibility

About

This is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study will utilize a randomized, placebo-controlled design for 12 weeks (phase 1), followed by an open-label extension for 12 weeks (phase 2). The purpose is to evaluate the effect of intranasal oxytocin on impairments in attention, social memory, socialization, language, and repetitive behaviors.

Enrollment: 18 patients

Sex: All

Ages: 5 to 17 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Quadruple Blind

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18 participants in 2 patient groups, including a placebo group

Oxytocin

Experimental group

Description:

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.

Treatment:

Drug: Oxytocin

Saline

Placebo Comparator group

Description:

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.

Treatment:

Drug: Saline