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

NCT04176523 | Recruiting FDA Drug

• 1 other identifier: 17180
• Study Type: observational
• Target: 95
• Locations: 7 countries
• Sites: 32

Brief Summary

This is a prospective mixed-design study focused on the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) with N-carbamylglutamate (NCG) maintenance therapy. Treatment characteristics, clinical outcomes, and healthcare utilization data of patients diagnosed PA or MMA treated \>6 months therapy with NCG are collected at baseline, 12 months, 18 months, 36 months and 54 months. Qualitative interviews with adult patients and caregivers are conducted \>6 months after study enrollment to gain a better understanding of the disease burden and the treatment burden of patients and their families.

Conditions

Methylmalonic Acidemia; Propionic Acidemia

Outcome Measures

Primary Outcomes (1)

• Change in Number and Duration of Decompensation Events

  Change in the number of decompensation events before and after treatment with carglumic acid

  54 months

Secondary Outcomes (4)

• Frequency and Duration of Healthcare Resource Utilization

  18 months

• Caregiver Burden Exposure Frequency and Duration

  18 months

• Caregiver Satisfaction Level

  18 months

• Maintenance Dosage of NCG

  54 months

Study Arms (2)

Methylmalonic_acidemia

Patients with confirmed diagnosis of methylmalonic acidemia, and treated with carglumic acid, at any dose form, any dosage,

Drug: Carglumic Acid

Propionic_Acidemia

Patients with confirmed diagnosis of propionic acidemia, and treated with carglumic acid, at any dose

Drug: Carglumic Acid

Interventions

Carglumic Acid DRUG

Maintenance therapy with carglumic acid

Also known as: Carbaglu

Methylmalonic_acidemia; Propionic_Acidemia

Eligibility Criteria

• Age: 6 Months - 99 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with organic acideamia that have been on treatment with CARBAGLU® for a minimum of six months for the long-term management of their disease. This prospective observational study population will include up to 95 diagnosed MMA or PA patients with current carglumic acid treatment experience from 6 European countries: Sweden, the United Kingdom (UK), the Netherlands, Germany, Norway, Italy, Spain and France. The patients (or caregivers) included in this prospective observational study will also be invited to participate in a one-on-one phone interview.

You may qualify if:

• Patient has confirmed diagnosis of an organic acidemia (e.g., MMA or PA)
• Patient initiated treatment with carglumic acid for long-term management of MMA or PA
• Patient has been treated with carglumic acid for a minimum of 6 months
• Patient (or caregiver) is able to comply with all prospective study procedures
• Patient (or caregiver) is able to provide informed consent

You may not qualify if:

• None

Sponsors & Collaborators

• RECORDATI GROUP: lead

Study Sites (32)

Hopital Des Enfants, CHU de Bordeaux-GH Pellegrin

Bordeaux, 33076, France

RECRUITING

Hopital de la Conception

Marseille, 13005, France

RECRUITING

Hôpital de la Timone

Marseille, 13005, France

RECRUITING

CHU de Nancy - Hopitaux de Brabois

Nancy, 54511, France

RECRUITING

Hôpital Necker Enfants Malades

Paris, 75015, France

RECRUITING

CHU de Rouen

Rouen, 76031, France

RECRUITING

Nouvel Hopital Civil

Strasbourg, 67091, France

RECRUITING

Hopital de Hautepierre

Strasbourg, 67098, France

RECRUITING

Klinikum Bremen Mitte, Prof. Hess Kinderklinik

Bremen, 28205, Germany

RECRUITING

Azienda Ospedaliero Universitaria Meyer

Florence, 50139, Italy

RECRUITING

San Paola Hospital, ASST Santi Paolo e Carlo

Milan, 20142, Italy

RECRUITING

Milan Policlinico University

Milan, Italy

RECRUITING

Azienda Ospedaliera San Gerardo Monza

Monza, 20900, Italy

RECRUITING

Azienda Ospedaliera Universitaria Federico II

Napoli, 80131, Italy

RECRUITING

University Hospital of Padova

Padua, Italy

RECRUITING

Turin University Hospital

Turin, Italy

RECRUITING

Oslo University Hospital

Oslo, 0372, Norway

RECRUITING

AMM hospital val d'hebron

Barcelona, Spain

RECRUITING

Sant Joan de Deu

Barcelona, Spain

RECRUITING

Universitario de Cruces

Bilbao, Spain

RECRUITING

Hospital Infantil Universitario Nino Jesus

Madrid, 28009, Spain

RECRUITING

Hospital 12 de Octubre

Madrid, 28026, Spain

RECRUITING

Hospital Universitario La Paz

Madrid, 28046, Spain

RECRUITING

Universitario Ramon y Cajal Madrid

Madrid, Spain

RECRUITING

Hospital Universitario Virgen de la Arrixaca

Murcia, 30120, Spain

RECRUITING

Hospital Universitario Son Espases

Palma de Mallorca, 07010, Spain

RECRUITING

Hospital Universitario Virgen del Rocio

Seville, 41013, Spain

RECRUITING

Universitario Miguel Servet

Zaragoza, Spain

RECRUITING

NÄL

Trollhättan, Sweden

TERMINATED

Guy's and St. Thomas' Hospital NHS Foundation Trust

London, SE1 7EH, United Kingdom

RECRUITING

Great Ormond Street Hospital

London, WC1N3JH, United Kingdom

RECRUITING

Sheffield Children's Hospital NHS Foundation Trust

Sheffield, S10 2TH, United Kingdom

RECRUITING

Related Publications (7)

• Burlina A, Bettocchi I, Biasucci G, Bordugo A, Gasperini S, La Spina L, Maines E, Meli C, Menni F, Paci S, Procopio E, Rossi A, Rubert L, Spada M, Tubili F, Tummolo A. Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey. Eur Rev Med Pharmacol Sci. 2022 Jul;26(14):5136-5143. doi: 10.26355/eurrev_202207_29302.

  PMID: 35916811 BACKGROUND

• Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. Orphanet J Rare Dis. 2021 Oct 11;16(1):422. doi: 10.1186/s13023-021-02032-8.

  PMID: 34635114 BACKGROUND

• Kido J, Matsumoto S, Nakamura K. Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia. Case Rep Pediatr. 2020 Mar 9;2020:4709548. doi: 10.1155/2020/4709548. eCollection 2020.

  PMID: 32231837 BACKGROUND

• Kiykim E, Oguz O, Duman C, Zubarioglu T, Cansever MS, Zeybek ACA. Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias. Mol Genet Metab Rep. 2021 Jan 30;26:100715. doi: 10.1016/j.ymgmr.2021.100715. eCollection 2021 Mar.

  PMID: 33552909 BACKGROUND

• Tummolo A, Melpignano L, Carella A, Di Mauro AM, Piccinno E, Vendemiale M, Ortolani F, Fedele S, Masciopinto M, Papadia F. Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. J Med Case Rep. 2018 Apr 22;12(1):103. doi: 10.1186/s13256-018-1631-1.

  PMID: 29679984 BACKGROUND

• Burlina A, Cazzorla C, Zanonato E, Viggiano E, Fasan I, Polo G. Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. Mol Genet Metab Rep. 2016 Jul 13;8:34-40. doi: 10.1016/j.ymgmr.2016.06.007. eCollection 2016 Sep.

  PMID: 27489777 BACKGROUND

• Yap S, Lamireau D, Feillet F, Ruiz Gomez A, Davison J, Tangeraas T, Giordano V. Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study. Drugs R D. 2024 Mar;24(1):69-80. doi: 10.1007/s40268-023-00449-z. Epub 2024 Jan 10.

  PMID: 38198106 BACKGROUND

MeSH Terms

Conditions

Methylmalonic acidemia; Propionic Acidemia

Interventions

carglumic acid

Condition Hierarchy (Ancestors)

Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Sufin Yap, MD

  Sheffield Children's NHS Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Vincenzo Giordano, MD

CONTACT

33 1 79911282; giordano.v@recordati.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 20, 2019
• First Posted: November 25, 2019
• Study Start: January 15, 2019
• Primary Completion: December 30, 2024
• Study Completion (Estimated): July 30, 2029
• Last Updated: February 5, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (8); DE (1); GB (3); ES (11); NO (1); SE (1); IT (7)