Clinical trials: Microcephalic Primordial Dwarfism
Microcephalic Osteodysplastic Primordial Dwarfism Type II, Seckel Syndrome
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II
The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).
- Trial name
- NANPIM (NCT03139903)
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Taybi Linder Syndrome, Genetic Syndrome
New Variants Involved in Taybi-Linder Syndrome
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD).
- Trial name
- NewViTALS (NCT03222947)
- Testing
- Deoxyribonucleic acid analysis
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Hospices Civils de Lyon
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
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