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  • : Abnormalities, Multiple

Abnormalities, Multiple - 435 Studies Found

Completed : Reproduction and Survival After Cardiac Defect Repair
:
  • Cardiovascular Diseases
  • Heart Diseases
  • Defect, Congenital
    : 2000-05-25
Completed : Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
: Sleep Disturbances in Smith-Magenis Syndrome
: 2017-03-16
: Other: Data collection of sleep disturbances in individuals with SMS Data related to Smith-Magenis syndr
Completed : Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS)
: Confirmed Genetic Diagnosis of Prader-Willi Syndrome
: 2017-04-03
:
  • Drug: Tesofensine/Metoprolol S

Completed : Rate of Progression in USH2A Related Retinal Degeneration
:
  • Usher Syndrome, Type 2A
  • Retinitis Pigmentosa 39

: 2017-05-04
Completed : Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years
: Prader-Willi Syndrome
: 2017-03-10
:
  • Drug: Oxytocin The study drug

Completed : Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
: Cornelia de Lange Syndrome
: 2016-11-16
: Other: Autonomic Dysfunction Testing The participants with CdLS will complete the COMPASS-31 survey and
Completed : Single Dose Pharmacokinetic (PK) Study
:
  • Angelman Syndrome
  • Fragile X Syndrome

: 2017-04-06
: Drug: OV101 Single-dose 5 mg OV101 Other Name: Gabox
Not yet recruiting : Optimizing the Social Engagement System in Prader-Willi Syndrome: Insights From the Polyvagal Theory
: Prader-Willi Syndrome
: 2017-03-23
: Behavioral: Listening Project Protocol The filtered music intervention will consist of listening to comp
Completed : A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome
: Barth Syndrome
: 2017-03-21
: Drug: Elamipretide 40 mg daily subcutaneous injection for 12 weeks
Completed : Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular Anomalies
:
  • Proteus Syndrome
  • PIK3CA-Related Overgrowth Spectrum (PROS)
  • : 2017-03-17
    : Drug: ARQ 092 Subjects will receive ARQ 092 orally at the dose level and administration schedule specifi
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