Abnormalities, Multiple - 435 Studies Found

Completed : Clinical Study of a Single Ciliopathy: Alström Syndrome
: Alström Syndrome (ALMS)
: 2016-08-19
Enrolling by invitation : Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
: 22q11 Deletion Syndrome Di George Syndrome
: 2016-08-26
Completed : Performance Analysis in Down Syndrome on Mobile Phone
: Down Syndrome
: 2016-08-18
:
  • Behavioral: Down Syndrome Group 1

Not yet recruiting : Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
:
  • Diabetes Mellitus
  • Iron Metabolism Disorders
  • Gastroduodenal
    : 2016-07-17
    :
    • Drug: Deferiprone Other Name:

Completed : Neurocognitive and Psychosocial Outcomes in Survivors of Childhood Leukemia With Down Syndrome
:
  • Leukemia
  • Down Syndrome

: 2016-08-04
Not yet recruiting : Cannabidiol Oral Solution for The Treatment of Subjects With Prader-Willi Syndrome
: Prader-Willi Syndrome
: 2016-07-22
:
  • Drug: Cannabidiol Oral solutio
Completed : Wolfram Syndrome International Registry and Clinical Study
:
  • Wolfram Syndrome
  • Diabetes Mellitus
  • Optic Nerve Atrophy : 2016-07-06
Completed : Register of Patients With Prader-Willi Syndrome
: Prader-Willi Syndrome
: 2016-07-07
: Other: Data collection This register will follow the evolution of the clinical practices and their conse
Completed : A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
:
  • Wolfram Syndrome
  • Diabetes Mellitus
  • Optic Nerve Atrophy : 2016-07-06
    : Drug: dantrolene sodium The purpose of this study is to as
Completed : Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells
: Marfan's Syndrome
: 2016-05-31
: Other: Skin biopsy A sample of skin (approximately 0.5cm x 0.5cm) from inner thigh area. The skin biopsy
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