UT Health / McGovern Medical School; Division of Medical Genetics
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 7 Trials 
16 Trials

   

 
Trial + Data / EventsStatusPhNRegionInterventionsSponsorConditionsPrimary complStudy compl
Berry-Kravis, Elizabeth
NCT05367960: An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

Enrolling by invitation
3
300
US
Zatolmilast/ BPN14770
Tetra Discovery Partners
Fragile X Syndrome
09/27
12/27
NCT05358886: A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

Active, not recruiting
3
171
US
BPN14770/ zatolmilast, Placebo
Tetra Discovery Partners
Fragile X Syndrome
07/25
07/25
RECONNECT, NCT04977986 / 2021-002542-33: Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults with Fragile X Syndrome

Recruiting
3
250
Europe, US, RoW
ZYN002 - transdermal gel, cannabidiol formulated as a clear gel that can be applied to the skin (transdermal delivery), Placebo, Placebo Comparator, Matching Placebo
Zynerba Pharmaceuticals, Inc., Zynerba Pharmaceuticals, Inc.
Fragile X Syndrome
05/25
05/25
NCT05163808: A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

Active, not recruiting
2/3
150
US
zatolmilast, BPN14770, Placebo
Tetra Discovery Partners
Fragile X Syndrome
09/25
12/25
NCT05030129: ERG/5-HTP in Fragile X Syndrome (FXS)

Completed
2
15
US
5-Hydroxytryptophan, 5-HTP, Basic Vitamins, Ergoloid Mesylates, Medisca, Matching placebo for Ergoloid mesylates, Matching placebo for 5-Hydroxytryptophan
Elizabeth Berry-Kravis, FRAXA Research Foundation, Purposeful IKE
Fragile X Syndrome
01/23
01/23
REVEAL, NCT05606614: Safety and Efficacy of TSHA-102 in Adolescent and Adult Females with Rett Syndrome ( Adult Study)

Recruiting
1/2
18
Canada, US
TSHA-102
Taysha Gene Therapies, Inc.
Rett Syndrome
01/25
01/32
NCT06152237: Safety and Efficacy of TSHA-102 in Pediatric Females with Rett Syndrome (REVEAL Pediatric Study)

Recruiting
1/2
20
Europe, Canada, US
TSHA-102
Taysha Gene Therapies, Inc.
Rett Syndrome
11/28
11/31
NCT05301361: Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities

Enrolling by invitation
1
68
US
Methylphenidate Oral Solution
University of California, Davis, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
09/25
09/26
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 
NCT02461420: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Active, not recruiting
N/A
205
US
Boston Children's Hospital, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Phelan-McDermid Syndrome Foundation
Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
12/25
12/26
NCT04507997: Angelman Syndrome Natural History Study

Recruiting
N/A
300
Canada, US
Boston Children's Hospital, University of California, San Diego, Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM), Food and Drug Administration (FDA), Angelman Syndrome Foundation Canada, Foundation for Angelman Syndrome Therapeutics Canada, Foundation for Angelman Syndrome Therapeutics, Angelman Syndrome Foundation, Inc.
Angelman Syndrome
04/31
04/31
NCT04476862: Cerliponase Alfa Observational Study in the US

Active, not recruiting
N/A
35
US
Cerliponase Alfa, Brineura, Administration Kit
BioMarin Pharmaceutical
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
08/30
08/30
Hillman, Paul
COMPASS, NCT05371613 / 2021-005200-35: 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)

Recruiting
2/3
54
Europe, Canada, US, RoW
tividenofusp alfa, idursulfase
Denali Therapeutics Inc.
Mucopolysaccharidosis II
12/25
12/25
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 
Bustamante, Daniela
PEGASUS, NCT05270837 / 2021-005058-27: Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

Active, not recruiting
3
55
Europe, US
Pegvaliase, PEG PAL, BMN 165, Diet Only
BioMarin Pharmaceutical, BioMarin Pharmaceutical Inc.
Phenylketonuria (PKU)
01/25
10/27
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 
Trial + Data / EventsStatusPhNRegionInterventionsSponsorConditionsPrimary complStudy compl
Berry-Kravis, Elizabeth
NCT05367960: An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

Enrolling by invitation
3
300
US
Zatolmilast/ BPN14770
Tetra Discovery Partners
Fragile X Syndrome
09/27
12/27
NCT05358886: A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

Active, not recruiting
3
171
US
BPN14770/ zatolmilast, Placebo
Tetra Discovery Partners
Fragile X Syndrome
07/25
07/25
RECONNECT, NCT04977986 / 2021-002542-33: Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults with Fragile X Syndrome

Recruiting
3
250
Europe, US, RoW
ZYN002 - transdermal gel, cannabidiol formulated as a clear gel that can be applied to the skin (transdermal delivery), Placebo, Placebo Comparator, Matching Placebo
Zynerba Pharmaceuticals, Inc., Zynerba Pharmaceuticals, Inc.
Fragile X Syndrome
05/25
05/25
NCT05163808: A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

Active, not recruiting
2/3
150
US
zatolmilast, BPN14770, Placebo
Tetra Discovery Partners
Fragile X Syndrome
09/25
12/25
NCT05030129: ERG/5-HTP in Fragile X Syndrome (FXS)

Completed
2
15
US
5-Hydroxytryptophan, 5-HTP, Basic Vitamins, Ergoloid Mesylates, Medisca, Matching placebo for Ergoloid mesylates, Matching placebo for 5-Hydroxytryptophan
Elizabeth Berry-Kravis, FRAXA Research Foundation, Purposeful IKE
Fragile X Syndrome
01/23
01/23
REVEAL, NCT05606614: Safety and Efficacy of TSHA-102 in Adolescent and Adult Females with Rett Syndrome ( Adult Study)

Recruiting
1/2
18
Canada, US
TSHA-102
Taysha Gene Therapies, Inc.
Rett Syndrome
01/25
01/32
NCT06152237: Safety and Efficacy of TSHA-102 in Pediatric Females with Rett Syndrome (REVEAL Pediatric Study)

Recruiting
1/2
20
Europe, Canada, US
TSHA-102
Taysha Gene Therapies, Inc.
Rett Syndrome
11/28
11/31
NCT05301361: Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities

Enrolling by invitation
1
68
US
Methylphenidate Oral Solution
University of California, Davis, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
09/25
09/26
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 
NCT02461420: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Active, not recruiting
N/A
205
US
Boston Children's Hospital, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Phelan-McDermid Syndrome Foundation
Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
12/25
12/26
NCT04507997: Angelman Syndrome Natural History Study

Recruiting
N/A
300
Canada, US
Boston Children's Hospital, University of California, San Diego, Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM), Food and Drug Administration (FDA), Angelman Syndrome Foundation Canada, Foundation for Angelman Syndrome Therapeutics Canada, Foundation for Angelman Syndrome Therapeutics, Angelman Syndrome Foundation, Inc.
Angelman Syndrome
04/31
04/31
NCT04476862: Cerliponase Alfa Observational Study in the US

Active, not recruiting
N/A
35
US
Cerliponase Alfa, Brineura, Administration Kit
BioMarin Pharmaceutical
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
08/30
08/30
Hillman, Paul
COMPASS, NCT05371613 / 2021-005200-35: 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)

Recruiting
2/3
54
Europe, Canada, US, RoW
tividenofusp alfa, idursulfase
Denali Therapeutics Inc.
Mucopolysaccharidosis II
12/25
12/25
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 
Bustamante, Daniela
PEGASUS, NCT05270837 / 2021-005058-27: Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

Active, not recruiting
3
55
Europe, US
Pegvaliase, PEG PAL, BMN 165, Diet Only
BioMarin Pharmaceutical, BioMarin Pharmaceutical Inc.
Phenylketonuria (PKU)
01/25
10/27
OR-ARI-EAP-NPC, NCT04316637: Early Access Program With Arimoclomol in US Patients With NPC

Available
N/A
US
Arimoclomol
ZevraDenmark
Niemann-Pick Disease, Type C
 
 

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