Clinical trials: Microcephaly, open to volunteers
Neuromotor Impairments, Cerebral Palsy
The FBRI VTC Neuromotor Research Clinic
The FBRI VTC Neuromotor Research Clinic was established and opened in May of 2013 to provide intensive therapeutic services to individuals with motor impairment secondary to neuromotor disorders. It is direct by Dr.
- Conditions
- Neuromotor Impairments, Cerebral Palsy, Microcephaly, Autism
- Trial name
- NCT03325946
- Testing
- ACQUIRE Therapy
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Virginia Polytechnic Institute and State University
MOPDII, Meier-Gorlin Syndrome
Primordial Dwarfism Registry
The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism as well as related conditions.
- Conditions
- MOPDII, Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Microcephalic Primordial Dwarfism
- Trial name
- NCT04569149
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Nemours Children's Clinic
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)
Brain Malformation, Neuronal Migration Disorder
Human Epilepsy Genetics--Neuronal Migration Disorders Study
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.
- Conditions
- Brain Malformation, Neuronal Migration Disorder, Cognition Disorder, Epilepsy
- Trial name
- NCT00041600
- Where
- United States
- Volunteers
- 3,500 people
- Sponsor
- Harvard University Faculty of Medicine
Spasticity, Muscle, Microcephaly
Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss.
- Conditions
- Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation
- Trial name
- NCT05518188
- Testing
- MELPIDA
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Elpida Therapeutics SPC
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany