Clinical trials: X-Linked Intellectual Disability
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Rett Syndrome
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females.
- Trial name
- NCT00891956
- Where
- 3 sites in United States
- Volunteers
- 426 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Intellectual Disability, Epilepsy
MEHMO Natural History and Biomarkers
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have…
- Conditions
- Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly
- Trial name
- NCT06019182
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Rett Syndrome
The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome
Randomized, placebo-controlled trial of oral calcium supplementation for osteopenia in girls and women with Rett syndrome
- Trial name
- NCT05352373
- Testing
- calcium
- Volunteers
- 32 people
- Sponsor
- Baylor College of Medicine
Rett Syndrome, Dysbiosis
Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT)
The study will examine the potential efficacy and safety of two pre- and post-biotics on markers for gut inflammation and intestinal microbiota ecology in patients with Rett syndrome.
- Conditions
- Rett Syndrome, Dysbiosis, Epilepsy, Quality of Life
- Trial name
- Biotics_RTT (NCT05420805)
- Testing
- ALAC, inulin, FOS, and sodium butyrate, Sodium butyrate and zinc oxide
- Where
- Italy
- Volunteers
- 28 people
- Sponsor
- Azienda Ospedaliera Universitaria Senese
Rett Syndrome, MECP2 Duplication dIsorder
Natural History of Rett Syndrome & Related Disorders
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the…
- Conditions
- Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
- Trial name
- NCT02738281
- Where
- 14 sites in United States
- Volunteers
- 1,044 people
- Sponsor
- University of Alabama at Birmingham
X-Linked Adrenoleukodystrophy
Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
This is a phase I/II, open label dose escalation study of multiple dose levels of NV1205 with a long-term treatment phase.
- Trial name
- NCT03196765
- Testing
- Sobetirome (NV1205)
- Where
- 13 sites in Argentina, Australia and 6 more
- Sponsor
- NeuroVia, Inc.
Rett Syndrome
Effects of Creatine Supplementation in Rett Syndrome
Creatine supplementation in RTT: a randomized controlled trial Rett Syndrome (RTT) is a neurodevelopmental disorder characterised by apparently normal early development (stage 1 of RTT) followed by loss of purposeful hand use…
- Trial name
- NCT01147575
- Testing
- Creatine monohydrate
- Where
- Austria
- Volunteers
- 21 people
- Sponsor
- Medical University of Vienna
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Menkes Disease
Long Term Follow-up on Menkes Disease Patients
This study will collect long term follow-up data regarding overall survival and neurological parameters from patients previously identified and/or enrolled in Protocols 09-CH-0059 and 90-CH0149 and Historical Control data on…
- Trial name
- NCT04337684
- Testing
- Long Term Follow-Up
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sentynl Therapeutics, Inc.
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
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Fragile X Syndrome
"Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX)
Fragile X syndrome (FXS) presents alterations in synaptic plasticity that produce intellectual disability. can produce improvement.
- Trial name
- NCT01855971
- Testing
- EGCG, Cognitive training
- Where
- Spain
- Volunteers
- 44 people
- Sponsor
- Parc de Salut Mar
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp