Clinical Trials on CHROMOSOME 2q31.2 DELETION SYNDROME in France

Total 136 results

Hôpital le Vinatier

Recruiting

Arithmetic Abilities in Children With 22q11.2DS (ARITH22)

22q11.2 Deletion Syndrome

France
Hôpital le Vinatier

Terminated

Social Cognition Training and Cognitive Remediation (RCKID)

22q11.2 Deletion Syndrome

France
Hôpital le Vinatier

Recruiting

Understanding of Psychotic Disorders in Children With 22q11.2DS (PremiCeS22)

22q11.2 Deletion Syndrome

France
Centre Hospitalier Universitaire de Nīmes

Completed

Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study

22q11 Deletion Syndrome Di George Syndrome

France
University Hospital, Brest

Recruiting

Biocollection in MyeloDysplastic Syndrome (P-MDS) (P-MDS)

Myelodysplastic Syndromes | Chromosome Abnormality | Acute Myeloid Leukemia With Multilineage Dysplasia | Myelodysplastic Syndrome With Ring Sideroblasts | Myelodysplastic Anemia | Myelodysplastic Syndrome With Isolated Del(5Q)

France
Laboratoires Vivacy

Recruiting

Study of a Novel Hyaluronic Acid Based Gel for Volume Deficiency in the Mid-face (FaceHyal) (FaceHyal)

Aging | Aesthetics | Volume Deficiency in the Mid-Face

France
Centre Hospitalier Universitaire Dijon

Unknown

Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene (OFD1)

Orofaciodigital Syndromes

France
Hôpital le Vinatier

Completed

Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11 (CSRK05)

Di George Syndrome

France
University Hospital, Grenoble

Completed

Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom (DIgiT21)

Trisomy 21

France
University Hospital, Strasbourg, France

Unknown

Trisomy 21 in Adulthood

Down Syndrome

France
Hospices Civils de Lyon

Completed

Fertility Preservation in Cases of Klinefelter Syndrome. (FERTIPRESERVE)

Klinefelter Syndrome

France
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France; University... and other collaborators

Active, not recruiting

Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells (ISETTRI21)

Trisomy 21

France
University Hospital, Caen

Terminated

Non-invasive Screening of Fetal Trisomy 21 by Digital PCR (dPNI-T21)

Trisomy 21

France
Assistance Publique - Hôpitaux de Paris

Completed

Social Cognition and Turner Syndrome (COGNITUR)

Turner Syndrome

France
Merck KGaA, Darmstadt, Germany

Completed

Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years

Turner's Syndrome

France
Assistance Publique - Hôpitaux de Paris

Completed

T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients (DEPOSA)

Trisomy 21, 18 and 13 Screening

France
Assistance Publique - Hôpitaux de Paris

Completed

Trisomy of Chromosome 21 Diagnosis by High Output Sequencing (SEQ21)

Trisomy 21 - Translocation

France
Ferring Pharmaceuticals

Terminated

Evaluation of the Adherence and the Patient Acceptability of Zomacton® Treatment With the Zomajet® Vision X Device (ZOMAXEPT)

Growth Hormone Deficiency | Turner's Syndrome

France
Centre Hospitalier Universitaire, Amiens

Recruiting

Association Between Renal and Right Cardiac Functions After Urinary Sodium Depletion Following Cardiac Surgery (DECONGEST)

Cardiorenal Syndrome

France
Assistance Publique - Hôpitaux de Paris
Groupe Hospitalier Pitie-Salpetriere

Active, not recruiting

Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome (CRYO-X0)

Turner Syndrome | Ovarian Insufficiency

France
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples (NT21)

Periodontitis | Trisomy 21

France
Central Hospital, Nancy, France

Completed

Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?

Turner Syndrome

France
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France

Enrolling by invitation

Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency Different From TS (SEXATURN)

Primary Ovarian Insufficiency | Turner Syndrome

France
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Down Syndrome and Continuous Positive Pressure Therapy (Morphee)

Obstructive Sleep Apnea Syndrome | Down Syndrome

France
Hôpital le Vinatier
Hospices Civils de Lyon

Completed

Melatonin in Adults With SMS (SMS-adults)

Smith Magenis Syndrome

France
Novartis

Completed

Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients

Fragile X Syndrome

France, Italy, Switzerland
Institut Jerome Lejeune

Recruiting

Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome (Colibri)

Down Syndrome

France
University Hospital, Strasbourg, France

Recruiting

Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome (Turner-Ylc)

Turner Syndrome

France
Hospices Civils de Lyon

Recruiting

Smith Magenis Syndrome Study (SMS)

Smith-Magenis Syndrome

France
Institut Jerome Lejeune
Hôpital Armand Trousseau

Completed

Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome

Down Syndrome

France
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome

Down Syndrome

France
Assistance Publique - Hôpitaux de Paris

Unknown

Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes (DASIRUWIBE)

Pregnant Women Requiring Amniocentesis

France
University Hospital, Tours

Completed

Glutaminergic Transmission in Autism : Molecular Imaging Exploration (TANGAU)

Healthy Volunteers | Autism | Fragile-X Syndrome (FXS)

France
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

Down Syndrome

France
Ferring Pharmaceuticals

Completed

An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG

Turner's Syndrome

Czech Republic, France, Netherlands
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Pilot Study of Auto-immune Abnormalities Associated With Down Syndrome (IMMUTRI)

Down Syndrome With and Without Auto Immune Abnormalities

France
Assistance Publique - Hôpitaux de Paris

Completed

Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) (DEPROGE)

Gitelman Syndrome | Potassium Depletion

France
Institut Jerome Lejeune
Central Hospital, Nancy, France; Hôpital Cochin

Completed

Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children (ACTHYF)

Down Syndrome

France
Centre Hospitalier Universitaire de Saint Etienne
Ministry of Health, France

Completed

Evaluation of a Simplified Method for Diagnosis of Sleep Apnea in Children and Adults With Down Syndrome (SAOS/T21)

Down Syndrome

France
University Hospital, Strasbourg, France

Active, not recruiting

AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) (AVAST)

Lymphedema | Turner Syndrome | Peripheral Angiopathy | Vascular Malformation

France
University Hospital, Grenoble

Completed

19/5000 (SYNAPSOT21) Predictive Factors of Sleep Apnea Syndrome in Down Syndrome (SYNAPSOT21)

Sleep Apnea, Obstructive | Down Syndrome | Polysomnography

France
University Hospital, Grenoble

Recruiting

Down Syndrome, Physical Activity and Sleep Apnea (TAPAS)

Down Syndrome

France
University Hospital, Strasbourg, France

Completed

Early Ultrasound and Maternal Biochemical Markers to Evaluate the Risk of Down Syndrome During the First Trimester

Down Syndrome

France
CHU de Reims

Unknown

Assessment of Women's Insight and Understanding of Down's Syndrome Screening by Non-invasive Prenatal Testing (NIPT) During Their First Ultrasound (DEPIST21)

Pregnancy

France
Université de Reims Champagne-Ardenne

Not yet recruiting

Gynaecological Follow-up of Women With Down Syndrom Aged 18 to 30 in France (Gyn-T21)

Down Syndrome

France
Assistance Publique - Hôpitaux de Paris

Unknown

Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome (ANASILPRA)

Prader-Willi Syndrome | Silver Russell Syndrome

France
University Hospital, Toulouse

Completed

Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo

Prader Willi Syndrome

France
Assistance Publique - Hôpitaux de Paris

Completed

Non Invasive Prenatal Testing of Down Syndrome (SAFE 21)

Down Syndrome

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Improving Care of Prader-Willi Syndrome : Evaluation of a New Care Program Combining Adapted Physical Activity, Nutrition and Therapeutic Education (APHYNET)

Obesity | Prader-Willi Syndrome

France
University Hospital, Toulouse

Completed

Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation (PRACOM1)

Prader-Willi Syndrome

France

Clinical Trials on CHROMOSOME 2q31.2 DELETION SYNDROME in France

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