Clinical Research Directory

Intranasal Insulin for Autism Spectrum Disorder in Children and Young Adults Aged 4 to 21 Years

This observational study evaluates the real-world use of intranasal insulin in children and young adults with autism spectrum disorder (ASD) utilizing the ViaNase™ device developed by Kurve Therapeutics. Intranasal insulin represents an off label use of an FDA approved medication and is prescribed by participants' treating healthcare providers as part of routine clinical care. Insulin is a hormone involved in cerebral energy metabolism and may play a role in cognitive processes such as learning, memory, and behavior. Emerging research suggests that intranasal delivery using specialized delivery systems such as ViaNase™ may facilitate transport along olfactory and trigeminal pathways, potentially allowing insulin to reach central nervous system targets. This delivery approach has been associated in early studies with changes in social communication and functional outcomes in individuals with neurodevelopmental conditions. This study will follow approximately 12 participants between the ages of 4 and 21 years who are already receiving, or planning to receive, intranasal insulin as part of their standard clinical care using the ViaNase™ device. This is a non-interventional observational study; no treatment is assigned or provided by the study team. Participants will be monitored over an approximate 6-month period for changes in autism-related symptoms, including social interaction, communication, repetitive behaviors, and overall functional development. In addition, safety data will be collected, including tolerability and any reported adverse events. The primary objective of this study is to generate real-world evidence to better characterize the safety profile and potential functional effects of intranasal insulin delivered via ViaNase™ in individuals with ASD, and to inform the design of future controlled clinical investigations.

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or genetic abnormalities. Participants receive individualized therapy sessions for approximately 2.5 hours per day over a two week period. The intervention is not standardized but is tailored to each child's specific needs and may include components such as sensory integration, motor planning, reflex integration, oculomotor training, executive functioning activities, communication support, and other brain based therapeutic approaches. The purpose of this study is to observe changes in functional abilities, including attention, motor coordination, emotional regulation, communication, and activities of daily living. Outcomes are assessed using clinician observation and parent reported changes before and after the intensive program, with limited follow-up when available. This study does not assign participants to a specific treatment as part of a research protocol. Instead, it collects real world data from children already participating in a clinical therapy program to better understand potential benefits of intensive, individualized neurorehabilitation approaches.

Effectiveness of the COPCA Program in Infants at Risk of Neurodevelopmental Disorders

The purpose of this clinical trial is to evaluate whether the COPCA® program (Coping with and Caring for Infants with Special Needs) is more effective than conventional pediatric physiotherapy and parent education in improving development in infants at risk of neurodevelopmental disorders, as well as empowering their families. This study will include infants younger than 12 months of corrected age who are at risk of neurodevelopmental disorders and are currently receiving early intervention or pediatric physiotherapy services, together with their parents or primary caregivers. The main questions this study aims to answer are: Does the COPCA® program improve motor development and functional abilities in infants at risk of neurodevelopmental disorders more than conventional pediatric physiotherapy or parent education? Does the COPCA® program increase family empowerment and improve parents' perception of the care they receive compared with traditional intervention models? The researchers will compare outcomes across four study groups: In-person COPCA® intervention Online COPCA® intervention Parent education group Conventional pediatric physiotherapy group Participants will be randomly assigned to one of the four groups. The intervention period will last 6 months, with assessments conducted at the start of the study, during the intervention, and during follow-up. Infants will take part in age-appropriate daily activities and play situations. Parents or caregivers will actively participate in the intervention sessions and will be supported in learning how to promote their child's development during everyday routines. The study will assess infant motor development, functional abilities, overall development, family empowerment, and parents' perception of family-centered care using validated assessment tools and interviews. The results of this study may help improve early intervention strategies for infants at risk of neurodevelopmental disorders and support more family-centered approaches to care.

Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation

Three million persons in France are impacted by rare diseases. Amid the 7000 different diseases which are identified today, neurodevelopmental disorders are the main symptoms found interesting 35 000 birth every years, according to the French Health Authority. In half of these cases, patients are under 5 years old and a molecular diagnosis is only available in 50% of them, associated with a diagnostic wandering exceeding 5 years for 25% of every patients. High throughput DNA sequencing technologies are powerful tools to elucidate new causative variants. Although the diagnostic yield was refined by DNA-seq, data interpretation and technology limits remain the two major obstacles which still need be overcame. Missing a molecular diagnosis through a genomic approach alone highlight the need to integrate multi-omic approaches such as Ribonucleic Acid sequencing. This sequencing level allows new insight such like the evidence of aberrant gene expression, mono allelic allele expression, or abnormal alternative splicing. It makes possible too, to detect variants which are unable to be found via genome sequencing only. Recently, a diagnostic performance improvement has been described trough the association of the two technics, i.e. Ribonucleic Acid-seq and genome sequencing, in a context of neuromuscular diseases. However, only few studies were carry out on neurodevelopmental disorders in addition with malformative features. We demonstrated by the end of 2022, a diagnostic results enhancement by carrying genome sequencing plus Ribonucleic Acid-seq at the same time on patient with previously exome negative analysis. Moreover in 2023, Dekker et al. work shed light on a diagnostic yield improvement via the same analytic schema. In face of those first observations, our study aims to evaluate the diagnostic contribution of Ribonucleic Acid-seq paired with genome sequencing in a trio way versus the genome sequencing in a solo way, to identify the find a final diagnosis for patient presenting neurodevelopmental disorders with developmental abnormalities and without an evident diagnosis after chromosome microarray and/or exome sequencing analysis. To successfully carry out our study, we plan to recruit patient in a protocol considered with minimal risk and minimal constraints, to compare Ribonucleic Acid-seq performed on fibroblasts, in addition to genome sequencing in a solo or a trio manner, to trio genome sequencing alone, with the final objective in mind to obtain an etiology diagnostic for a patient presenting with neurodevelopmental disorders and development abnormalities.