Testing effectiveness (Phase 2)Study completedNCT03126019What this trial is testingINCB050465 in Relapsed or Refractory Follicular LymphomaWho this might be right forLymphoma Incyte Corporation 126
Not applicableStudy completedNCT04256681What this trial is testingSNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)Who this might be right forHereditary Spastic Paraparesis IRCCS Eugenio Medea 80
Not applicableUnknownNCT03424772What this trial is testingWhole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in ChinaWho this might be right forIntellectual DisabilityMultiple Congenital AnomalyRare Diseases Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 100
Testing effectiveness (Phase 2)Study completedNCT01733407What this trial is testingL-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Who this might be right forHereditary Sensory and Autonomic Neuropathy Type I Massachusetts General Hospital 18
Early research (Phase 1)Study completedNCT01031901What this trial is testingTopical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)Who this might be right forTuberous SclerosisNeurofibromatosesAngiofibroma+1 more The University of Texas Health Science Center, Houston 52
Not applicableLooking for participantsNCT05848271What this trial is testingNatural History Study of Patients with HPDL MutationsWho this might be right forMitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia+4 more University of California, San Diego 50
Testing effectiveness (Phase 2)Study completedNCT00378664What this trial is testingLumbar to Sacral Ventral Nerve Re-RoutingWho this might be right forUrinary IncontinenceSpinal Cord InjurySpina Bifida Kenneth Peters, MD 13
Large-scale testing (Phase 3)WithdrawnNCT00301587What this trial is testingEvaluate Folate Levels in Women Taking Oral ContraceptivesWho this might be right forNeural Tube DefectsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System Malformations Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
Not applicableStudy completedNCT00005016What this trial is testingStudy of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of HolopresencephalyWho this might be right forHoloprosencephaly National Human Genome Research Institute (NHGRI) 30
Large-scale testing (Phase 3)UnknownNCT01289704What this trial is testingTreadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)Who this might be right forCharcot-Marie-Tooth DiseaseCharcot-Marie-Tooth Disease Type 1A University of Genova 92
Not applicableLooking for participantsNCT00313677What this trial is testingClinical Trial Readiness for the DystroglycanopathiesWho this might be right forMuscular Dystrophy Katherine Mathews 190
Not applicableNot Yet RecruitingNCT05776706What this trial is testingClinical Trial for the Validation of AR Based Neuronavigation SystemWho this might be right forBrain NeoplasmsCerebral AneurysmCerebral Arteriovenous Malformation+1 more Seoul National University Hospital 80
Not applicableStudy completedNCT02876939What this trial is testingProprioception and Sensorimotor Control in Hereditary Sensory and Autonomic NeuropathyWho this might be right forAtunomic Neuropathy NYU Langone Health 16
Not applicableLooking for participantsNCT01193075What this trial is testingNatural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersWho this might be right forCharcot Marie Tooth Disease Michael Shy 5,000
Large-scale testing (Phase 3)UnknownNCT06293716What this trial is testingCVL237 Tablets for APDS/PASLIWho this might be right forPI3K and P110delta Hyperactivation Syndrome Convalife (Shanghai) Co., Ltd. 35
Testing effectiveness (Phase 2)Active Not RecruitingNCT06392009What this trial is testingAstroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type IIWho this might be right forTuberous Sclerosis ComplexFocal Cortical Dysplasia GRIN Therapeutics, Inc. 30
Not applicableStudy completedNCT05286632What this trial is testingKidneYou - Innovative Digital TherapyWho this might be right forChronic Kidney DiseasesDiabetesArterial Hypertension+10 more Advice Pharma Group srl 210
Testing effectiveness (Phase 2)Study completedNCT03589014What this trial is testingTreat_CCM: Propranolol in Familial Cerebral Cavernous MalformationWho this might be right forCerebral Cavernous Malformation Mario Negri Institute for Pharmacological Research 71
Large-scale testing (Phase 3)UnknownNCT04987463What this trial is testingEfficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in InfantsWho this might be right forTuberous Sclerosis Complex Katarzyna Kotulska 60
Not applicableStudy completedNCT00341133What this trial is testingGenetic Analysis of Left-Right Axis FormationsWho this might be right forCongenital Heart Disease National Human Genome Research Institute (NHGRI) 900