NCT06448663

Targeting the Gut to Improve Seizure Control in CDKL5 Deficiency Disorder (CDD)

Targeting the Gut to Improve Seizure Control in CDD

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 20 (estimated)
• Sponsor: University of Milan · Academic / Other
• Sex: All
• Age: 3 Years – 50 Years
• Healthy volunteers: Not accepted

Summary

Standard anti-seizure medications have limited efficacy in seizure control in cyclin-dependent kinase-like 5 deficiency disorder (CDD). The study will investigate whether targeting the gut-microbiota-brain axis in CDD patients can alleviate seizures and ameliorate other comorbidities.

Detailed description

CDD is a neurodevelopmental condition characterized by infantile-onset epilepsy, developmental delays, intellectual and motor disabilities, sleep disturbances, and cortical visual impairment. Currently, there is no treatment for CDD, and epilepsy is a prominent and severe feature of the disorder. Standard anti-seizure medications have limited efficacy in seizure control, leading to detrimental effects on cognitive and motor development in CDD. The gut-brain axis has gained attention in epilepsy research, prompted by evidence of gastrointestinal (GI) symptoms in people with epilepsy. Studies have demonstrated significant changes in gut microbial composition in animal models and between individuals with epilepsy and healthy subjects. Notably, CDD patients experience GI problems, and we discovered that they exhibit alterations in their gut microbiota compared to healthy individuals. The study will investigate whether supplementing CDD patients with alpha-lactalbum and prebiotics alone or with post-biotics can improve neurological features and modulate microbiota composition.

Conditions

• CDKL5

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	alpha-lactalbumin, fructooligosaccharides, inulin	The first round supplementation will be administered for 3-month period (i.e. 12 weeks). One dose/day (2g sachet) is intended to be administered orally once a day after dissolving in water. At the scheduled visits/phone contacts \[i.e., baseline, 12 weeks, and 16 weeks (post washout)\], seizure frequency and entity of the critical episodes will be recorded. Gut microbiome characterization, clinical scales and dietary intake will be assessed.
DIETARY_SUPPLEMENT	alpha-lactalbumin, sodium butyrate, fructooligosaccharides, inulin	The second round supplementation will be administered for 3-month period (i.e. 12 weeks). For participants weighing \<30 kg, a 4 g dose (i.e., one 4 g sachet) is intended to be administered orally once a day after dissolving in water. For participants weighing ≥30 kg, a 4 g dose (i.e., 4 g sachets) is intended to be administered orally twice a day (12h interval) after dissolving in water. At the scheduled visits/phone contacts \[i.e., 28 weeks and 32 weeks (post washout)\], seizure frequency and entity of the critical episodes will be recorded. Gut microbiome characterization, clinical scales and dietary intake will be assessed.

Timeline

• Start date: 2024-04-01
• Primary completion: 2025-01-31
• Completion: 2025-04-30
• First posted: 2024-06-07
• Last updated: 2024-06-07

Locations

1 site across 1 country: Italy