Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Condition(s):Nonimmune Fetal Hydrops; Nonimmune Hydrops in Neonate; Genetic DisordersLast Updated:November 22, 2023Recruiting
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Condition(s):Nonimmune Fetal Hydrops; Nonimmune Hydrops in Neonate; Genetic DisordersLast Updated:November 22, 2023Recruiting
Condition(s):Neoplastic Syndromes, Hereditary; Cancer; Genetic Predisposition to DiseaseLast Updated:November 4, 2022Recruiting
Condition(s):Congenital Heart DiseaseLast Updated:February 13, 2024Recruiting
Condition(s):Leukodystrophy; White Matter Disease; 4H Syndrome; Adrenoleukodystrophy; AMN; ALD; ALD (Adrenoleukodystrophy); X-linked Adrenoleukodystrophy; X-ALD; Adrenomyeloneuropathy; Aicardi Goutieres Syndrome; AGS; Alexander Disease; Alexanders Leukodystrophy; AxD; ADLD; Canavan Disease; CTX; Cerebrotendinous Xanthomatoses; Krabbe Disease; GALC Deficiency; Globoid Leukodystrophy; TUBB4A-Related Leukodystrophy; H-ABC – Hypomyelination, Atrophy of Basal Ganglia and Cerebellum; HBSL; HBSL – Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity; LBSL; Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder); Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation; ALSP; CSF1R Gene Mutation; HCC – Hypomyelination and Congenital Cataract; MLC1; Megalencephalic Leukoencephalopathy With Subcortical Cysts 1; MLD; Metachromatic Leukodystrophy; PMD; Pelizaeus-Merzbacher Disease; PLP1 Null Syndrome; PLP1 Gene Duplication | Blood or Tissue | Mutations; Pelizaeus-Merzbacher-Like Disease, 1; Peroxisomal Biogenesis Disorder; Zellweger Syndrome; Refsum Disease; Salla Disease; Sialic Storage Disease; Sjögren; Sjogren-Larsson Syndrome; Van Der Knapp Disease; Vanishing White Matter Disease; Charcot-Marie-Tooth; CMT; Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency; Allan-Herndon-Dudley Syndrome; Cadasil; Cockayne Syndrome; Multiple Sulfatase Deficiency; Gangliosidoses; GM2 Gangliosidosis; BPAN; Labrune Syndrome; LCC; Mucopolysaccharidoses; TBCK-Related Intellectual Disability SyndromeLast Updated:February 2, 2024Active, not recruiting
Condition(s):Leukemia; Hematologic Malignancy; Rare Diseases; Refractory Leukemia; Refractory Lymphoma; Unknown Primary TumorsLast Updated:March 22, 2023Recruiting
Condition(s):Genetic Disease; Genetic SyndromeLast Updated:May 27, 2021Unknown status
Condition(s):Inherited Retinal Dystrophy; Retinitis Pigmentosa; Macular DystrophyLast Updated:March 31, 2023Recruiting
Condition(s):Infant, Newborn, Disease; Genetic DiseaseLast Updated:November 3, 2023Enrolling by invitation
Condition(s):Intellectual Disability; Multiple Congenital Anomaly; Rare DiseasesLast Updated:February 8, 2018Unknown status
Condition(s):Bronchiectasis Idiopathic; Cystic Fibrosis; Primary Ciliary DyskinesiaLast Updated:January 25, 2019Unknown status
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