3-methylcrotonyl CoA carboxylase 1 deficiency: Clinical Trials

2 trials for 3-methylcrotonyl CoA carboxylase 1 deficiency, newest first

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1 active not recruiting, 1 unknown. .

Follow 3-methylcrotonyl CoA carboxylase 1 deficiency: new trials by email Literature Review of 3-methylcrotonyl CoA carboxylase 1 deficiency trials Research Report on 3-methylcrotonyl CoA carboxylase 1 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
Early Check: Expanded Screening in Newborns
Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome
Active not recruitingRTI International300002018-10-152026-07-01

Narrower conditions

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2)  ·  Acidemia, isovaleric (2)  ·  Argininosuccinic Aciduria (2)  ·  Beta ketothiolase deficiency (2)  ·  Biotinidase Deficiency (2)  ·  Carbamoyl-Phosphate Synthase I Deficiency Disease (2)  ·  Carnitine palmitoyl transferase 1A deficiency (2)  ·  Carnitine palmitoyl transferase 2 deficiency (2)  ·  Carnitine-Acylcarnitine Translocase Deficiency (2)  ·  Citrullinemia (2)  ·  Glutaric Acidemia I (2)  ·  Homocystinuria (2)  ·  Hyperargininemia (2)  ·  Medium chain acyl CoA dehydrogenase deficiency (2)

Broader conditions

Amino Acid Metabolism, Inborn Errors (2)  ·  Brain Diseases (2)  ·  Brain Diseases, Metabolic (2)  ·  Brain Diseases, Metabolic, Inborn (2)  ·  Carbohydrate Metabolism, Inborn Errors (2)  ·  Central Nervous System Diseases (2)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (2)  ·  Connective Tissue Diseases (2)  ·  Genetic Diseases, Inborn (2)  ·  Genetic Diseases, X-Linked (2)  ·  Hyperhomocysteinemia (2)  ·  Metabolic Diseases (2)  ·  Mitochondrial Diseases (2)  ·  Multiple Carboxylase Deficiency (2)  ·  Nervous System Diseases (2)

Interventions

Aging (1)

Sponsors

RTI International (1)  ·  West Kazakhstan Medical University (1)

Countries

Kazakhstan (1)  ·  United States (1)

Top investigators

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

Results publications

PMID 31315600, PMID 35142618, PMID 38283151