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6 recruiting studies matching your filters

Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfu…

AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more

Estimated

~$10 – $675

National Human Genome Research Institute (NHGRI)NCT06092346

Phase 1

A Phase Ib/II First-in-human, Multicentre, Open-label, Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Effect of Intrathecal S230815 in Pediatric Participants With KCNT1-related Developmental and Epileptic Encephalopathy

Study CL1-230815-001 (KANDLE) is a Phase Ib/II, First In Human, multicentre, open-label, multiple ascending dose study to assess the safety, tolerability, phar…

Epileptic Encephalopathy

Estimated

~$10 – $7,500

Institut de Recherches Internationales ServierNCT07227857

Phase 3

A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy

A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental a…

Epileptic EncephalopathySCN2A Encephalopathy

Estimated

~$10 – $7,500

Praxis Precision MedicinesNCT07019922

Observational

Pilot Study of Transcranial Direct Current Stimulation (tDCS) to Treat Epilepsy

The purpose of this research is to see to what extent electrical stimulation applied to the scalp (transcranial direct current stimulation or tDCS) can reduce …

Focal EpilepsyGeneralized Onset EpilepsySleep-related Epileptic Encephalopathy

Estimated

~$10 – $6,250

Mayo ClinicNCT05673915

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, …

Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more

Genetics of Epilepsy and Related Disorders

Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to epilepsy and rela…

EpilepsyEpileptic Encephalopathy

Estimated

~$10 – $750

Boston Children's HospitalNCT01858285