Clinical trials: Disabilities, Intellectual
Fragile X Syndrome, Behavior
An Investigation of Psilocybin on Behavioural and Cognitive Symptoms of Adults With Fragile X Syndrome
Diverse symptomatology makes Fragile X Syndrome (FXS) difficult to treat, and currently there are no approved prevention or treatment methods for FXS.
- Conditions
- Fragile X Syndrome, Behavior, Cognitive Dysfunction
- Trial name
- NCT05832255
- Testing
- Psilocybin, 1.5 mg
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- Nova Mentis Life Science Corp
Down Syndrome
A Study of ACI-24 in Adults With Down Syndrome
This study is a prospective multicenter, placebo-controlled, double-blind, randomized study to assess the effect of one dose ACI-24 versus placebo over a 74-week treatment period and 26-week safety follow-up period.
- Trial name
- NCT04373616
- Testing
- ACI-24
- Sponsor
- AC Immune SA
Fragile X Syndrome
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another…
- Trial name
- NCT01433354
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 119 people
- Sponsor
- Novartis Pharmaceuticals
Abuse Prevention
Protect Yourself: Abuse Prevention for People With Intellectual Disabilities
The purpose of this study is to help individuals and their caregivers develop a plan on how to recognize, deal with and respond to abusive situations.
- Trial name
- AP4ID (NCT03998605)
- Testing
- Abuse Prevention Program, Control Condition
- Where
- United States
- Sponsor
- Double S Instructonal Systems
Fragile X Syndrome
A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome
This randomized, double-blind, placebo-controlled, parallel-arm study will evaluate the safety and exploratory efficacy and pharmacokinetics of RO4917523 in pediatric patients with fragile X syndrome.
- Trial name
- NCT01750957
- Testing
- RO4917523
- Where
- 20 sites in United States
- Volunteers
- 47 people
- Sponsor
- Hoffmann-La Roche
Rett Syndrome, RTT
Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
To evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in participants with Rett syndrome.
- Trial name
- ARCH (NCT03848832)
- Testing
- GWP42003-P
- Where
- 26 sites in United States, Italy and 2 more
- Volunteers
- 29 people
- Sponsor
- Jazz Pharmaceuticals
Pregnancy, Aneuploidy
Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy…
- Conditions
- Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
- Trial name
- NCT00971334
- Where
- 35 sites in United States, France
- Volunteers
- 2,502 people
- Sponsor
- Sequenom, Inc.
Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of…
- Trial name
- NCT02095015
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 159 people
- Sponsor
- Shire
Mucopolysaccharidosis II
A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome
This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme…
- Trial name
- NCT04251026
- Testing
- tividenofusp alfa
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 47 people
- Sponsor
- Denali Therapeutics Inc.
Pyruvate Dehydrogenase Complex Deficiency
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
The objective of this research study is to conduct a pivotal phase 3 trial of treatment with the investigational drug dichloroacetate (DCA) in young children with deficiency of the pyruvate dehydrogenase complex (PDC).
- Trial name
- DCA/PDCD (NCT02616484)
- Testing
- Dichloroacetate (DCA), Genotype
- Where
- 10 sites in United States
- Volunteers
- 34 people
- Sponsor
- Saol Therapeutics Inc
Prader-Willi Syndrome
PWS Outcomes Assessment Study
This is a longitudinal study during which qualitative interviews will be conducted with caregivers of Soleno C601/C602 study subjects.
- Trial name
- NCT04102839
- Testing
- Interview
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Soleno Therapeutics, Inc.
Fragile X Syndrome, Autism
Effects of CX516 on Functioning in Fragile X Syndrome and Autism
This study will investigate whether CX516 can improve attention, memory, language, or behavior in adults with Fragile X Syndrome and/or Autism. CX516 is an AMPAKINE® compound. AMPAKINE compounds enhance synaptic strength.
- Trial name
- NCT00054730
- Testing
- CX516 (Ampalex®)
- Where
- 2 sites in United States
- Sponsor
- RespireRx
Intellectual Disability, Developmental Delay
Biomarker for Creatine Deficiency Syndromes (BioCDS)
Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample
- Conditions
- Intellectual Disability, Developmental Delay, Movement Disorder, Behavioral Disorder
- Trial name
- BioCDS (NCT02934854)
- Where
- 4 sites in Egypt, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Mucopolysaccharidosis II
Study of Idursulfase-beta (GC1111) in Hunter Syndrome
This study evaluates the efficacy and safety of three doses of GC1111 in patients with Hunter Syndrome. Participants will be randomized to one of three doses of GC1111 or comparator.
- Trial name
- NCT02663024
- Testing
- idursulfase beta, idursulfase
- Volunteers
- 20 people
- Sponsor
- Green Cross Corporation
Fragile X Syndrome
Study of SPG601 in Adult Men With Fragile X Syndrome
This Phase 2 study described herein will evaluate the safety, efficacy, tolerability, pharmacokinetics and pharmacodynamics of SPG601 in adult men with Fragile X syndrome.
- Trial name
- NCT06413537
- Testing
- SPG601
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Spinogenix
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Pyruvate Dehydrogenase Complex Deficiency
Expanded Access Treatment Protocol With DCA for Patients With PDCD
Expanded Access (EA) will provide a transition to continue therapy for those patients who are currently in the open label extension of the Phase III study, SL 1009-01, while also allowing new patients diagnosed with PDCD who meet…
- Trial name
- NCT06931262
- Testing
- Dichloroacetate (DCA)
- Sponsor
- Saol Therapeutics Inc
Mucopolysaccharidosis II
A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723
Study IDS116406 will be a non-interventional, phlebotomy study in Hunter Syndrome patients who are currently being treated with idursulfase, an enzyme replacement therapy, and in at least a single patient who is naïve to…
- Trial name
- NCT01602601
- Testing
- Idursulfase, GSK2788723
- Where
- Japan
- Volunteers
- 10 people
- Sponsor
- GlaxoSmithKline
Down Syndrome
Non-drug Study to Evaluate the Suitability of Neurocognitive Tests and Functioning Scales for the Measurement of Cognitive and Functioning Changes in Children With Down Syndrome
The aim of this study is to assess the suitability of selected scales (floor/ceiling effects, variability, test-retest reliability) to measure cognitive function in children with Down syndrome over 6 months, and to evaluate the…
- Trial name
- NCT02451657
- Testing
- No Intervention
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 40 people
- Sponsor
- Hoffmann-La Roche
Mucopolysaccharidosis Type II (MPS II)
CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system.
- Trial name
- NCT03566043
- Testing
- RGX-121
- Where
- 5 sites in United States, Brazil
- Volunteers
- 48 people
- Sponsor
- REGENXBIO Inc.