Rare Disease Clinical Studies | DecenTrialz

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Genetic & Rare Diseases

Clinical trials in Genetic & Rare Diseases explore conditions that often have a genetic origin and affect small patient populations. Research in this therapeutic area includes studying new therapies f...

ALL (5,271)

3-Hydroxy 3-Methyl Glutaric Aciduria (3)

AADC Deficiency (2)

Abetalipoproteinemia (8)

Aceruloplasminemia (4)

Achondroplasia (34)

Achromatopsia (34)

Adrenoleukodystrophy (ALD) (21)

Alagille Syndrome (9)

Albinism (26)

Alexander Disease (8)

Alkaptonuria (1)

Alpha-1 Antitrypsin Deficiency (13)

Alport Syndrome (11)

Alstrom Syndrome (6)

Amino Acid Metabolism Disorder (194)

Angelman Syndrome (49)

Aniridia (15)

Arginase Deficiency (8)

Arthrogryposis (12)

Ataxia-Telangiectasia (30)

Bardet-Biedl Syndrome (10)

Barth Syndrome (5)

Bartter Syndrome (2)

Batten Disease (13)

Beta-Thalassemia (143)

Birt-Hogg-Dube Syndrome (23)

Birth Defect (519)

BRAF Gene Mutation (27)

Charcot-Marie-Tooth Disease (148)

CHARGE Syndrome (4)

Chediak-Higashi Syndrome (1)

Chiari Malformation (39)

Cholesterol Ester Storage Disease (CESD) (9)

Choroideremia (28)

Cockayne Syndrome (3)

Congenital Adrenal Hyperplasia (33)

Congenital Disorder (1,034)

Costello Syndrome (8)

Cowden Syndrome (33)

Craniosynostosis (19)

Cri-du-Chat Syndrome (1)

Cutis Laxa (20)

Cystic Fibrosis (291)

Cystinosis (13)

Danon Disease (10)

Deletion/Microduplication Syndrome (21)

Dercum's Disease (3)

Developmental and Epileptic Encephalopathy 50 (72)

Disorders of Sex Development (DSD) (62)

DOK 8 (1)

Down Syndrome (205)

Dravet Syndrome (69)

Duchenne Muscular Dystrophy (142)

EGFR Gene Mutation (77)

Ehlers-Danlos Syndrome (92)

Emery-Dreifuss Muscular Dystrophy (31)

Epidermolysis Bullosa (19)

Fabry Disease (45)

Familial Adenomatous Polyposis (85)

Familial Chylomicronemia Syndrome (8)

Familial Mediterranean Fever (43)

Fanconi Anemia (124)

Fatal Familial Insomnia (9)

Fatty Acid Oxidation Disorder (28)

Fragile X Syndrome (56)

Friedreich's Ataxia (80)

Gaucher Disease (52)

Genetic Disorder (718)

Genomic Sequencing (137)

Giant Axonal Neuropathy (5)

Glycogen Storage Disease (44)

Hemochromatosis (Iron Overload) (87)

Hereditary Cancer Syndromes (618)

Hereditary Hemorrhagic Telangiectasia (57)

Holoprosencephaly (10)

Hunter Syndrome (MPS II) (17)

Huntington Disease (199)

Hurler Syndrome (10)

Intellectual Disability (415)

Joubert Syndrome (4)

Kabuki Syndrome (3)

Kallmann Syndrome (12)

Klinefelter Syndrome (23)

Klippel-Trenaunay Syndrome (25)

Krabbe Disease (13)

Leber Hereditary Optic Neuropathy (LHON) (36)

Leukodystrophy (53)

Limb-Girdle Muscular Dystrophy (66)

Loeys-Dietz Syndrome (24)

Lymphangioleiomyomatosis (LAM) (25)

Lynch Syndrome (106)

Lysosomal Acid Lipase Deficiency (8)

Lysosomal Storage Disease (158)

Marfan Syndrome (38)

McCune-Albright Syndrome (8)

Meckel-Gruber Syndrome (5)

Menkes Disease (11)

Metachromatic Leukodystrophy (10)

Microcephaly (14)

Minus Syndrome (Alfi's Syndrome) (1)

Mitochondrial Disease (112)

Morquio Syndrome (11)

Mucopolysaccharidosis (MPS) (27)

Muscular Dystrophy (257)

Myotonic Dystrophy (102)

Nemaline Myopathy (6)

Neural Tube Defect (72)

Neurocutaneous Syndrome (98)

Neurofibromatosis (134)

Neuromuscular Disorder (1,153)

Niemann-Pick Disease (14)

Noonan Syndrome (19)

Ornithine Transcarbamylase Deficiency (13)

Osteogenesis Imperfecta (48)

Osteopetrosis (10)

Paroxysmal Nocturnal Hemoglobinuria (PNH) (33)

Phelan-McDermid Syndrome (6)

Phenylketonuria (PKU) (29)

Polycystic Kidney Disease (PKD) (82)

Pompe Disease (51)

Porphyria (7)

Prader-Willi Syndrome (24)

Precision Medicine (260)

Primary Ciliary Dyskinesia (17)

Primary Hyperoxaluria (15)

Progeria (4)

Pseudohypoaldosteronism (1)

Pseudohypoparathyroidism (7)

Pseudoxanthoma Elasticum (15)

Rett Syndrome (25)

Rubinstein-Taybi Syndrome (4)

Shwachman-Diamond Syndrome (9)

Smith-Lemli-Opitz Syndrome (1)

Smith-Magenis Syndrome (41)

Sotos Syndrome (36)

Spina Bifida (52)

Spinal Muscular Atrophy (SMA) (202)

Spinocerebellar Ataxia (127)

Stickler Syndrome (14)

Sturge-Weber Syndrome (9)

Tay-Sachs Disease (21)

Thalassemia (173)

Treacher Collins Syndrome (12)

Trisomy 13 (Patau Syndrome) (10)

Trisomy 18 (Edwards Syndrome) (9)

Tuberous Sclerosis (35)

Turner Syndrome (36)

Tyrosinemia (24)

Urea Cycle Disorder (35)

Von Hippel-Lindau Disease (23)

Williams Syndrome (44)

Wilson Disease (74)

Wiskott-Aldrich Syndrome (13)

Wolf-Hirschhorn Syndrome (2)

Wolman Disease (8)

X-Linked Adrenoleukodystrophy (24)

Xeroderma Pigmentosum (19)

Zellweger Syndrome (8)

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