This is a prospective mixed-design study focused on the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) with N-carbamylglutamat…

France95 participantsStarted 2019-01-15

Treatment: Carglumic Acid

All recent trials (18 shown)

CompletedNot Applicable

NCT05687474

Baby Detect : Genomic Newborn Screening

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple…

Belgium6,824 participantsStarted 2022-09-01

By InvitationNot Applicable

NCT03655223

Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approa…

United States30,000 participantsStarted 2018-10-15

Treatment: Confirmatory Testing

Propionic/Methylmalonic Acidemias

Trial phase breakdown

Trial status

Actively recruiting — 2 trials

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach

All recent trials (18 shown)

Baby Detect : Genomic Newborn Screening

Early Check: Expanded Screening in Newborns

Trial phase breakdown

Trial status

Actively recruiting — 2 trials

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach

All recent trials (18 shown)

Baby Detect : Genomic Newborn Screening

Early Check: Expanded Screening in Newborns

Long-term Efficacy of Carglumic Acid in Organic Acidemia.

MyRareDiet A Novel Diet Tracking Tool

Branched Chain Amino Acids Ratio in Medical Foods

Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia

Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Pat…

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

"The MaP Study": Mapping the Patient Journey in MMA and PA

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia

Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia

Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants

Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate