Prader-Willi Syndrome Clinical Trial
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with
Smith-Magenis syndrome (SMS) associated with del(17p11.2).
II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.
III. Clinically evaluate patients with Williams syndrome with molecular characterization of
7q11.23.
IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome
patients with unique molecular findings in 15q11q13 or 22q11.2.
V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those
with loss of expression of only some of the imprinted transcripts in 15q11-q13.
VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion,
uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman
gene, UBE3A, and identify mutations of this gene.
VII. Investigate phenotype and genotype correlations in patients with terminal deletions of
chromosome 1p.
PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These
include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic,
otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal
ultrasound.
Smith-Magenis patients are also evaluated with the following: urine melatonin levels during
day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic,
and cholesterol studies. A clinical and phenotypic map is constructed.
When appropriate, parental chromosome analysis is performed.
;
Primary Purpose: Screening
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05032326 -
Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial
|
Phase 3 | |
| Completed |
NCT04526379 -
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
|
N/A | |
| Terminated |
NCT03458416 -
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
|
Phase 2 | |
| Completed |
NCT03718416 -
Natural History Study of Serious Medical Events in PWS
|
||
| Completed |
NCT05322096 -
Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome
|
Phase 2 | |
| Terminated |
NCT02179151 -
Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome
|
Phase 3 | |
| Completed |
NCT02205450 -
Growth Hormone in Children Under 2 Years With Prader-Willi in Hospital of Sabadell
|
||
| Completed |
NCT00375089 -
Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
|
N/A | |
| Recruiting |
NCT05938543 -
Cerebellar TMS and Satiety in Prader-Willi Syndrome
|
N/A | |
| Suspended |
NCT05879614 -
An Open-Label Study of Oral NNZ-2591 in Prader-Willi Syndrome (PWS-001)
|
Phase 2 | |
| Recruiting |
NCT03031626 -
Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome
|
Phase 4 | |
| Withdrawn |
NCT04086810 -
An Open-Label Study of DCCR Tablet in Patients With PWS
|
Phase 3 | |
| Completed |
NCT02629991 -
Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
|
Phase 2 | |
| Recruiting |
NCT02297022 -
Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome
|
Phase 1 | |
| Not yet recruiting |
NCT02263781 -
PREPL in Health and Disease
|
N/A | |
| Completed |
NCT00551343 -
Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
|
N/A | |
| Recruiting |
NCT06448871 -
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
|
||
| Enrolling by invitation |
NCT03655223 -
Early Check: Expanded Screening in Newborns
|
||
| Recruiting |
NCT05939453 -
Impact of Bright Light Therapy on Prader-Willi Syndrome
|
N/A | |
| Recruiting |
NCT04463316 -
GROWing Up With Rare GENEtic Syndromes
|