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Results for “Rare Abnormalities”

407 trials

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Showing 20 of 407 results

Not applicableUnknownNCT03424772
What this trial is testing

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Who this might be right for
Intellectual DisabilityMultiple Congenital AnomalyRare Diseases
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 100
Not applicableUnknownNCT05092230
What this trial is testing

Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)

Who this might be right for
Pompe Disease
University Hospital Center of Martinique 100
Not applicableStudy completedNCT00005892
What this trial is testing

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

Who this might be right for
Fanconi's AnemiaMyelodysplastic SyndromesLeukemia, Nonlymphocytic, Acute+1 more
Fairview University Medical Center
Large-scale testing (Phase 3)UnknownNCT03453632
What this trial is testing

Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex

Who this might be right for
Epidermolysis Bullosa Simplex
University Hospital, Toulouse 25
Not applicableLooking for participantsNCT05031507
What this trial is testing

Study of Skeletal Disorders

Who this might be right for
Skeletal Disorders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 100
Not applicableEnrolling By InvitationNCT06041906
What this trial is testing

International Registry of Congenital Portosystemic Shunt (IRCPSS)

Who this might be right for
Congenital Portosystemic ShuntCPSS (Congenital Portosystemic Shunt)
Prof. Valérie Mc Lin 500
Not applicableStudy completedNCT00004840
What this trial is testing

Study of Antenatal Thyrotropin-Releasing Hormone in Women in Premature Labor to Prevent Lung Disease in Preterm Infants

Who this might be right for
Respiratory Distress Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 996
Not applicableLooking for participantsNCT04880356
What this trial is testing

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Who this might be right for
Inherited DiseaseRare DiseasesMetabolic Disease+3 more
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableStudy completedNCT04157595
What this trial is testing

Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Who this might be right for
X-Linked Genetic DiseasesAutosomal Recessive Disorder
Murdoch Childrens Research Institute 18,302
Not applicableStudy completedNCT00006130
What this trial is testing

Decompression Coring Versus Conservative Therapy in Patients With Avascular Necrosis of the Hip Related to Sickle Cell Disease

Who this might be right for
Bone Avascular NecrosisSickle Cell Anemia
UCSF Benioff Children's Hospital Oakland 50
Testing effectiveness (Phase 2)Study completedNCT00016445
What this trial is testing

Phase II Study of Growth Hormone in Children With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
University of Utah 40
Testing effectiveness (Phase 2)Study completedNCT03013543
What this trial is testing

Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity

Who this might be right for
Genetic ObesityObesityObesity Due to Melanocortin 4 Receptor Deficiency
Rhythm Pharmaceuticals, Inc. 213
Testing effectiveness (Phase 2)Study completedNCT00004492
What this trial is testing

Phase I/II Randomized Study of Hydroxyurea With or Without Clotrimazole in Patients With Sickle Cell Anemia

Who this might be right for
Sickle Cell Anemia
University of North Carolina 20
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07041814
What this trial is testing

A Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare Diseases

Who this might be right for
Turner Syndrome
Universiti Kebangsaan Malaysia Medical Centre 24
Large-scale testing (Phase 3)Study completedNCT00004646
What this trial is testing

Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy

Who this might be right for
Duchenne Muscular Dystrophy
National Center for Research Resources (NCRR) 20
Testing effectiveness (Phase 2)Study completedNCT05358717
What this trial is testing

Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)

Who this might be right for
Huntington Disease
PTC Therapeutics 159
Not applicableLooking for participantsNCT05954416
What this trial is testing

FARD (RaDiCo Cohort) (RaDiCo-FARD)

Who this might be right for
Inherited Epidermolysis BullosaIchthyosisEctodermal Dysplasia+6 more
Institut National de la Santé Et de la Recherche Médicale, France 900
Early research (Phase 1)Study completedNCT00004667
What this trial is testing

Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease

Who this might be right for
Von Willebrand's Disease
National Center for Research Resources (NCRR) 10
Not applicableStudy completedNCT03713151
What this trial is testing

Feasibility of a Blended Therapy Approach

Who this might be right for
TelemedicineExerciseFeasibility+2 more
University of Zurich 30
Large-scale testing (Phase 3)Study completedNCT00004339
What this trial is testing

Study of Tetrathiomolybdate in Patients With Wilson Disease

Who this might be right for
Wilson Disease
National Center for Research Resources (NCRR) 90
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