Clinical trials: Microcephaly, open to volunteers
Sleep Apnea
Spanish Registry of Patients With Sleep Apnea and Daytime Sleepiness
Multicenter, observational and prospective study, in which patients referred to the sleep unit with suspected apnea will be recruited obstructive sleep.
- Trial name
- HYPNOSA (NCT06514482)
- Testing
- Diagnosis
- Where
- Spain
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hospital San Pedro de Logroño
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