Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
NCT ID: NCT04176523
Last Updated: 2024-02-05
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
95 participants
OBSERVATIONAL
2019-01-15
2029-07-30
Brief Summary
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Detailed Description
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Study Procedures: After Institutional Review Board (IRB)/Independent Ethics Committee (IEC) approval is obtained for the protocol and all supporting protocol documents, clinicians caring for patients with MMA or PA will provide their patients (or caregivers) with the opportunity to participate in the study. Patients (or caregivers) will receive an Information Letter (PIL) (Appendices A and B) inviting them (or their caregiver) to take part in a prospective observational study and in a one-on-one phone interview.
Patients (or caregivers) who are interested in participating in this observational/interview study will review the informed consent form (Appendices C and D) with the clinician and his/her research team. If agreeable, patients (or caregivers) will be asked to sign the consent form and a countersigned copy will be provided to them for their records. Clinicians and their research team at each site will then review patient charts and record demographic and medical history information for each patient. Patient information from medical charts will be collected at the start of the study (baseline), and 12 months and 18 months, and 36 months, and 54 months after baseline. All information derived from medical chart reviews will be recorded through web-based Electronic Data Capture system (EDC).
Patients (or caregivers) who agree to participate in a one-on-one phone interview will provide contact information for their clinicians and the respective research team to include in the Contact Information Form (CIF) (Appendix E). Researchers will then contact patients (or caregivers) directly to schedule a one-hour phone interview. An interview guide (Appendices F and G) including open-ended questions and probes will be used to elicit concepts and orient the discussion during the interview. Patient (or caregiver) interviews will focus on describing the symptoms and impacts of MMA or PA, as well as patient treatment experiences with carglumic acid, their treatment preferences, and their satisfaction with treatment. At the end of the interview, patients (or caregivers) will be asked to complete a Demographic and Health Information Form (DHIF; Appendices H and I). Phone interviews will be audio-recorded with the patient's (or caregiver) permission, transcribed and translated (as needed) in preparation for qualitative analysis.
Data Analysis: The primary prospective data analysis will involve a comparison of the incidence and duration of decompensation episodes pre- and post- initiation of carglumic acid. Additional analysis will include healthcare resource utilization around individual decompensation events, patient/caregiver burden, and patient/caregiver satisfaction with treatment. All prospective data will be undertaken using SAS® software, version 9.4 of the SAS® system for Windows (Cary, NC, USA). All qualitative data from the interviews will be analyzed using ATLAS.ti, a software package uniquely designed to analyze qualitative data. The audio-recorded verbatim transcripts of the interviews will be coded to identify patterns in participants' responses concerning patient experiences with the symptoms and impacts of MMA or PA, treatment experience with carglumic acid, patient treatment preferences, and treatment satisfaction. Findings will be summarized in a final report and may be published or presented by the investigator(s) after the review by, and in consultation and agreement with, the sponsor. If published or presented, the results will be presented in such a way that confidential or proprietary information is not disclosed.
Conditions
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Study Design
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CASE_ONLY
PROSPECTIVE
Study Groups
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Methylmalonic_acidemia
Patients with confirmed diagnosis of methylmalonic acidemia, and treated with carglumic acid, at any dose form, any dosage,
Carglumic Acid
Maintenance therapy with carglumic acid
Propionic_Acidemia
Patients with confirmed diagnosis of propionic acidemia, and treated with carglumic acid, at any dose
Carglumic Acid
Maintenance therapy with carglumic acid
Interventions
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Carglumic Acid
Maintenance therapy with carglumic acid
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
2. Patient initiated treatment with carglumic acid for long-term management of MMA or PA
3. Patient has been treated with carglumic acid for a minimum of 6 months
4. Patient (or caregiver) is able to comply with all prospective study procedures
5. Patient (or caregiver) is able to provide informed consent
Exclusion Criteria
6 Months
99 Years
ALL
No
Sponsors
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Recordati Rare Diseases
INDUSTRY
Responsible Party
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Principal Investigators
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Sufin Yap, MD
Role: PRINCIPAL_INVESTIGATOR
Sheffield Children's NHS Trust
Locations
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Hopital Des Enfants, CHU de Bordeaux-GH Pellegrin
Bordeaux, , France
Hopital de la Conception
Marseille, , France
Hôpital de la Timone
Marseille, , France
CHU de Nancy - Hopitaux de Brabois
Nancy, , France
Hôpital Necker Enfants Malades
Paris, , France
CHU de Rouen
Rouen, , France
Nouvel Hopital Civil
Strasbourg, , France
Hopital de Hautepierre
Strasbourg, , France
Klinikum Bremen Mitte, Prof. Hess Kinderklinik
Bremen, , Germany
Azienda Ospedaliero Universitaria Meyer
Florence, , Italy
San Paola Hospital, ASST Santi Paolo e Carlo
Milan, , Italy
Milan Policlinico University
Milan, , Italy
Azienda Ospedaliera San Gerardo Monza
Monza, , Italy
Azienda Ospedaliera Universitaria Federico II
Napoli, , Italy
University Hospital of Padova
Padua, , Italy
Turin University Hospital
Turin, , Italy
Oslo University Hospital
Oslo, , Norway
AMM hospital val d'hebron
Barcelona, , Spain
Sant Joan de Deu
Barcelona, , Spain
Universitario de Cruces
Bilbao, , Spain
Hospital Infantil Universitario Nino Jesus
Madrid, , Spain
Hospital 12 de Octubre
Madrid, , Spain
Hospital Universitario La Paz
Madrid, , Spain
Universitario Ramon y Cajal Madrid
Madrid, , Spain
Hospital Universitario Virgen de la Arrixaca
Murcia, , Spain
Hospital Universitario Son Espases
Palma de Mallorca, , Spain
Hospital Universitario Virgen del Rocio
Seville, , Spain
Universitario Miguel Servet
Zaragoza, , Spain
NÄL
Trollhättan, , Sweden
Guy's and St. Thomas' Hospital NHS Foundation Trust
London, , United Kingdom
Great Ormond Street Hospital
London, , United Kingdom
Sheffield Children's Hospital NHS Foundation Trust
Sheffield, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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Hôpital de la Timone
Role: primary
Hôpital Necker Enfants Malades
Role: primary
Alexandra Horbe-Blindt
Role: primary
Maria Alice Donati, MD
Role: primary
Sabrina Paci, MD
Role: primary
Milan Policlinico University
Role: primary
Serena Gasperini, MD
Role: primary
Giancarlo Parenti, MD
Role: primary
University Hospital of Padova
Role: primary
Turin University Hospital
Role: primary
AMM hospital val d'hebron
Role: primary
Sant Joan de Deu
Role: primary
Universitario de Cruces
Role: primary
Elvira Canedo-Villarroya, MD
Role: primary
Universitario Ramon Ramon y Cajal Madrid
Role: primary
Universitario Miguel Servet
Role: primary
Roshini Vara, MD
Role: primary
References
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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.
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.
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.
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.
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.
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.
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.
Other Identifiers
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17180
Identifier Type: -
Identifier Source: org_study_id
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