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

February 2, 2024 updated by: Recordati Rare Diseases
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Study Design: This is a prospective, longitudinal, observational study of patients diagnosed with organic acidemia that has been on treatment with carglumic acid for a minimum of six months for the long-term management of their disease. This prospective observational study population will include up to 85 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.

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.

Study Type

Observational

Enrollment (Estimated)

95

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Bordeaux, France, 33076
      • Marseille, France, 13005
        • Recruiting
        • Hôpital de la Timone
        • Contact:
          • Hôpital de la Timone
      • Marseille, France, 13005
        • Recruiting
        • Hôpital de la Conception
        • Contact:
      • Nancy, France, 54511
        • Recruiting
        • CHU de Nancy - Hopitaux de Brabois
        • Contact:
      • Paris, France, 75015
        • Recruiting
        • Hôpital Necker Enfants Malades
        • Contact:
          • Hôpital Necker Enfants Malades
      • Rouen, France, 76031
      • Strasbourg, France, 67091
      • Strasbourg, France, 67098
  • Germany
      • Bremen, Germany, 28205
        • Recruiting
        • Klinikum Bremen Mitte, Prof. Hess Kinderklinik
        • Contact:
          • Alexandra Horbe-Blindt
  • Italy
      • Firenze, Italy, 50139
        • Recruiting
        • Azienda Ospedaliero Universitaria Meyer
        • Contact:
          • Maria Alice Donati, MD
      • Milan, Italy, 20142
        • Recruiting
        • San Paola Hospital, ASST Santi Paolo e Carlo
        • Contact:
          • Sabrina Paci, MD
      • Milan, Italy
        • Recruiting
        • Milan Policlinico University
        • Contact:
          • Milan Policlinico University
      • Monza, Italy, 20900
        • Recruiting
        • Azienda Ospedaliera San Gerardo Monza
        • Contact:
          • Serena Gasperini, MD
      • Napoli, Italy, 80131
        • Recruiting
        • Azienda Ospedaliera Universitaria Federico II
        • Contact:
          • Giancarlo Parenti, MD
      • Padova, Italy
        • Recruiting
        • University Hospital of Padova
        • Contact:
          • University Hospital of Padova
      • Turin, Italy
        • Recruiting
        • Turin University Hospital
        • Contact:
          • Turin University Hospital
  • Norway
      • Oslo, Norway, 0372
        • Recruiting
        • Oslo University Hospital
        • Contact:
  • Spain
      • Barcelona, Spain
        • Recruiting
        • AMM hospital val d'hebron
        • Contact:
          • AMM hospital val d'hebron
      • Barcelona, Spain
        • Recruiting
        • Sant Joan de Deu
        • Contact:
          • Sant Joan de Deu
      • Bilbao, Spain
        • Recruiting
        • Universitario de Cruces
        • Contact:
          • Universitario de Cruces
      • Madrid, Spain, 28046
        • Recruiting
        • Hospital Universitario La Paz
        • Contact:
      • Madrid, Spain, 28009
        • Recruiting
        • Hospital Infantil Universitario Niño Jesús
        • Contact:
          • Elvira Canedo-Villarroya, MD
        • Contact:
      • Madrid, Spain, 28026
      • Madrid, Spain
        • Recruiting
        • Universitario Ramon y Cajal Madrid
        • Contact:
          • Universitario Ramon Ramon y Cajal Madrid
      • Murcia, Spain, 30120
        • Recruiting
        • Hospital Universitario Virgen de la Arrixaca
        • Contact:
      • Palma De Mallorca, Spain, 07010
        • Recruiting
        • Hospital Universitario Son Espases
        • Contact:
          • Angeles Ruiz-Gomez, MD
          • Phone Number: 0034 659 71 96 81
          • Email: ma.ruiz@ssib.es
      • Sevilla, Spain, 41013
        • Recruiting
        • Hospital Universitario Virgen del Rocio
        • Contact:
          • Maria Bueno-Delgado, MD
          • Phone Number: 0034 616 11 98 97
          • Email: mbuenod@yahoo.es
      • Zaragoza, Spain
        • Recruiting
        • Universitario Miguel Servet
        • Contact:
          • Universitario Miguel Servet
  • Sweden
      • Trollhattan, Sweden
        • Terminated
        • NÄL
  • United Kingdom
      • London, United Kingdom, WC1N3JH
        • Recruiting
        • Great Ormond Street Hospital
        • Contact:
      • London, United Kingdom, SE1 7EH
        • Recruiting
        • Guy's and St. Thomas' Hospital NHS Foundation Trust
        • Contact:
          • Roshini Vara, MD
          • Phone Number: +44 ‭(0)20 7188 9412‬
      • Sheffield, United Kingdom, S10 2TH
        • Recruiting
        • Sheffield Children's Hospital NHS Foundation Trust
        • Contact:
        • Contact:
        • Principal Investigator:
          • Sufin Yap, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 months to 99 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

N/A

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.

Description

Inclusion Criteria:

  1. Patient has confirmed diagnosis of an organic acidemia (e.g., MMA or PA)
  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:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Methylmalonic_acidemia
Patients with confirmed diagnosis of methylmalonic acidemia, and treated with carglumic acid, at any dose form, any dosage,
Drug: Carglumic Acid
Maintenance therapy with carglumic acid
Other Names:
  • Carbaglu
Propionic_Acidemia
Patients with confirmed diagnosis of propionic acidemia, and treated with carglumic acid, at any dose
Drug: Carglumic Acid
Maintenance therapy with carglumic acid
Other Names:
  • Carbaglu

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in Number and Duration of Decompensation Events
Time Frame: 54 months
Change in the number of decompensation events before and after treatment with carglumic acid
54 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Frequency and Duration of Healthcare Resource Utilization
Time Frame: 18 months
Estimation of the health care resource utilization associated with a decompensation event with number of inpatient hospitalization vs. outpatient vs. home. Treatment used to control ammonia levels during decompensation episodes. Number of emergency visits. number of visits to specialist or to general practitioner. Number of hospital stays. Number of bed days in hospital.
18 months
Caregiver Burden Exposure Frequency and Duration
Time Frame: 18 months
description of the patient and caregiver burden associated with MMA and PA
18 months
Caregiver Satisfaction Level
Time Frame: 18 months
Describe the MMA and PA patient and caregiver satisfaction with MMA or PA treatment
18 months
Maintenance Dosage of NCG
Time Frame: 54 months
Document the dosages of NCG used in maintenance treatment
54 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Recordati Rare Diseases

Investigators

  • Principal Investigator: Sufin Yap, MD, Sheffield Children's NHS Trust

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 15, 2019

Primary Completion (Estimated)

December 30, 2024

Study Completion (Estimated)

July 30, 2029

Study Registration Dates

First Submitted

November 20, 2019

First Submitted That Met QC Criteria

November 21, 2019

First Posted (Actual)

November 25, 2019

Study Record Updates

Last Update Posted (Actual)

February 5, 2024

Last Update Submitted That Met QC Criteria

February 2, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 17180

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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