Studies in Patients With Tuberous Sclerosis Complex
NCT03276195 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 32
Last updated 2023-11-29
Summary
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected siblings) and sporadic TSC.
Conditions
- Tuberous Sclerosis Complex
Sponsors & Collaborators
-
United States Department of Defense
collaborator FED -
Translational Genomics Research Institute
lead OTHER
Principal Investigators
-
Vinodh Narayanan · Translational Genomics Research Institiute (TGen)
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2016-05-01
- Primary Completion
- 2023-11-27
- Completion
- 2023-11-27
Countries
- United States
Study Locations
More Related Trials
-
A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD
NCT02451696 ·Status: COMPLETED ·Phase: PHASE2
-
The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
NCT05705674 ·Status: RECRUITING
-
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
NCT06078553 ·Status: RECRUITING
-
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
NCT03708965 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2
-
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
NCT05825131 ·Status: RECRUITING
-
Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
NCT06614569 ·Status: ACTIVE_NOT_RECRUITING
-
The Prevalence of RYR1-related Disease
NCT06791369 ·Status: NOT_YET_RECRUITING
-
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
NCT02126995 ·Status: COMPLETED ·Phase: PHASE2
-
STXBP1 and SYNGAP1 Related Disorders Natural History Study
NCT06555965 ·Status: RECRUITING
-
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
NCT05371613 ·Status: RECRUITING ·Phase: PHASE2/PHASE3
-
A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil
NCT05155488 ·Status: COMPLETED
-
Evaluation of Phenotypic Variability in Fabry Disease
NCT03145779 ·Status: WITHDRAWN
-
Neural Biomarkers in Fragile X Syndrome
NCT06957054 ·Status: COMPLETED
-
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
NCT00344331 ·Status: RECRUITING
-
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II
NCT03139903 ·Status: COMPLETED
-
Gene Therapy for Tay-Sachs Disease
NCT01869270 ·Status: COMPLETED
-
Miglustat in Niemann-Pick Type C Disease
NCT00517153 ·Status: COMPLETED ·Phase: PHASE2
-
A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of JWK008 in Patients With Mucopolysaccharidosis Type I
NCT06519552 ·Status: RECRUITING ·Phase: PHASE1
-
Ten Year Follow-up in FSHD: the FOCUS 3 Study
NCT06911190 ·Status: RECRUITING
-
Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension
NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2
-
Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease
NCT00316498 ·Status: COMPLETED ·Phase: PHASE1
-
Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I
NCT03071341 ·Status: COMPLETED ·Phase: PHASE1/PHASE2
-
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
NCT01586871 ·Status: COMPLETED
-
A Long-term Follow-up Study of Gaucher Disease
NCT03190837 ·Status: RECRUITING
-
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
NCT04595513 ·Status: COMPLETED ·Phase: PHASE1/PHASE2