Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

• Status: Not yet recruiting
• Trial end date: 2026-07-01
• Target enrollment: 0
• Participant gender: All

Summary

The aim of this study is to utilize neurophysiologic assessments, behavioral measures and clinical measures to assess how much deficits associated with Fragile X Syndrome from pre-dose to post-dose using pharmacology.

• Phase: Early Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Children's Hospital Medical Center, Cincinnati
• Collaborator: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Treatments: Baclofen; Memantine

Criteria

Inclusion Criteria:

• Subjects ages 18-45, with FXS who completed the study entitled "Mechanisms and brain circuits underlying fragile X syndrome" (IRB # 2015-8425) or appropriate baseline measures through Biorepository (2013-7327).

• FXS is defined as full FMR1 mutations (>200 CGG repeats) confirmed by genetic testing.

• General good health as determined by physical exam, medical history and laboratory work up.

• Stanford Binet IQ <85

• Stable dosing of psychotropic drugs for at least 4 weeks.

Exclusion Criteria:

• Subjects with a history of intolerance to baclofen, roflumilast, or memantine will be excluded.

• Subjects will also be excluded if they have taken any investigational drug within 3 months, have a history of substance abuse or dependence within 6 months, or significant psychiatric or CNS neurological disease unrelated to FXS.

• Uncontrolled seizures or history of epilepsy with a seizure in the past 6 months

• Auditory or visual impairments that cannot be corrected based on visual and auditory screener benchmarks.

• Moderate to severe renal or hepatic impairment and determined by a study physician incorporating data from exam, medical history and laboratory value evaluation among other data points.

• Use of barbiturates, benzodiazepines, antiepileptics, or other GABAergic or glutamatergic modulators

• Current use of: Amifampridine, Butalbital, Codeine, Doxylamine, Ethanol, Hydrocodone, Isocarboxazid, Kava, Metoclopramide, Midazolam, Oxybate, Phenelzine, Promethazine, Thalidomide, Tranylcypromine, Trimethobenzamide, Erythromycin, Ketoconazole, Fluvoxamine, Enoxacin, and Cimetidine.

• Those taking other psychiatric medications must be on stable doses for 4 weeks before the baseline visit.

• Pregnancy or breast-feeding. For female subjects of child bearing potential, a urine pregnancy test will be performed.

• Potential subjects with a creatinine clearance < 50 mL/min will be excluded.

• Identified medical issues, inability to tolerate study procedures or study drug per the discretion of the Principal Investigator.