2-Methylbutyryl-CoA Dehydrogenase Deficiency: Clinical Trials

1 trial for 2-Methylbutyryl-CoA Dehydrogenase Deficiency, newest first

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1 unknown. .

Follow 2-Methylbutyryl-CoA Dehydrogenase Deficiency: new trials by email Literature Review of 2-Methylbutyryl-CoA Dehydrogenase Deficiency trials Research Report on 2-Methylbutyryl-CoA Dehydrogenase Deficiency

Trials newest first · largest first

Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.

TrialPhaseStatusSponsorEnrollmentStartUpdated
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years - Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
UnknownWest Kazakhstan Medical University22502022-10-032023-06-18

Narrower conditions

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (1)  ·  3-Methylglutaconic Aciduria, Type I (1)  ·  3-methylcrotonyl CoA carboxylase 1 deficiency (1)  ·  Acidemia, isovaleric (1)  ·  Argininosuccinic Aciduria (1)  ·  Beta ketothiolase deficiency (1)  ·  Biotinidase Deficiency (1)  ·  Carbamoyl-Phosphate Synthase I Deficiency Disease (1)  ·  Carnitine palmitoyl transferase 1A deficiency (1)  ·  Carnitine palmitoyl transferase 2 deficiency (1)  ·  Carnitine-Acylcarnitine Translocase Deficiency (1)  ·  Citrullinemia (1)  ·  Glutaric Acidemia I (1)  ·  Homocystinuria (1)

Broader conditions

Amino Acid Metabolism, Inborn Errors (1)  ·  Brain Diseases (1)  ·  Brain Diseases, Metabolic (1)  ·  Brain Diseases, Metabolic, Inborn (1)  ·  Carbohydrate Metabolism, Inborn Errors (1)  ·  Central Nervous System Diseases (1)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1)  ·  Connective Tissue Diseases (1)  ·  Genetic Diseases, Inborn (1)  ·  Genetic Diseases, X-Linked (1)  ·  Hyperhomocysteinemia (1)  ·  Metabolic Diseases (1)  ·  Mitochondrial Diseases (1)  ·  Multiple Carboxylase Deficiency (1)  ·  Nervous System Diseases (1)

Interventions

Aging (1)

Sponsors

West Kazakhstan Medical University (1)

Countries

Kazakhstan (1)

Top investigators

Gulmira M. Zharmakhanova, MD, PhD (1)  ·  Lyazzat M. Syrlybayeva, MD (1)  ·  Victoria I. Kononets, MD, MS (1)

Results publications

PMID 38283151