Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
A Burlina, I Bettocchi, G Biasucci...
https://pubmed.ncbi.nlm.nih.gov/35916811Actively Recruiting
Age: 6Months - 99Years
All Genders
ID04176523
Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU4: A Mixed Methods Approach
Led by RECORDATI GROUP · Updated on 2024-02-05
95
Participants Needed
32
Research Sites
239 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a prospective observational study to understand the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) using maintenance therapy with carglumic acid (NCG). This study collects detailed data on treatment characteristics, clinical outcomes, and healthcare use among patients who have been treated with carglumic acid for more than six months. Additionally, qualitative interviews with adult patients and caregivers gather insights about the disease and treatment burden. The study includes up to 85 patients diagnosed with MMA or PA from several European countries who have used carglumic acid for at least six months. Data is collected at baseline, 12, 18, 36, and 54 months to track changes over time. Participants or their caregivers may also take part in one-on-one phone interviews to discuss symptoms, treatment experiences, preferences, and satisfaction. During the study, researchers review medical charts and record demographic and treatment history information through a web-based system. The interviews are audio-recorded, transcribed, and analyzed to identify patient experiences and treatment impacts. The main outcome measured is the change in the number and duration of metabolic decompensation events over 54 months, along with secondary outcomes like healthcare use, caregiver burden, satisfaction, and maintenance dosage. Participants remain involved for up to 54 months with ongoing data collection and interviews.
CONDITIONS
Brief Title
Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
Who Can Participate
Age: 6Months - 99Years
All Genders
Eligibility Criteria
You may qualify if you...
- 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 will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote) to review eligibility and consent
Monitoring
Duration - 54 months
Participants who have been treated with carglumic acid for organic acidemia are observed over time through medical chart reviews to track health status and treatment outcomes.
Medical chart information collected at baseline, 12 months, 18 months, 36 months, and 54 months
Diagnostic Evaluation
Duration - One-time interview during the study period
Participants who agree to participate in a one-on-one phone interview share their experiences with symptoms, treatment, and quality of life related to organic acidemia and carglumic acid.
1 phone interview lasting about 1 hour
Trial Site Locations
Total: 32 locations
1
Hopital Des Enfants, CHU de Bordeaux-GH Pellegrin
Bordeaux, France, 33076
Actively Recruiting
2
Hopital de la Conception
Marseille, France, 13005
Actively Recruiting
3
Hôpital de la Timone
Marseille, France, 13005
Actively Recruiting
4
CHU de Nancy - Hopitaux de Brabois
Nancy, France, 54511
Actively Recruiting
5
Hôpital Necker Enfants Malades
Paris, France, 75015
Actively Recruiting
6
CHU de Rouen
Rouen, France, 76031
Actively Recruiting
7
Nouvel Hopital Civil
Strasbourg, France, 67091
Actively Recruiting
8
Hopital de Hautepierre
Strasbourg, France, 67098
Actively Recruiting
9
Klinikum Bremen Mitte, Prof. Hess Kinderklinik
Bremen, Germany, 28205
Actively Recruiting
10
Azienda Ospedaliero Universitaria Meyer
Florence, Italy, 50139
Actively Recruiting
11
San Paola Hospital, ASST Santi Paolo e Carlo
Milan, Italy, 20142
Actively Recruiting
12
Milan Policlinico University
Milan, Italy
Actively Recruiting
13
Azienda Ospedaliera San Gerardo Monza
Monza, Italy, 20900
Actively Recruiting
14
Azienda Ospedaliera Universitaria Federico II
Naples, Italy, 80131
Actively Recruiting
15
University Hospital of Padova
Padova, Italy
Actively Recruiting
16
Turin University Hospital
Turin, Italy
Actively Recruiting
17
Oslo University Hospital
Oslo, Norway, 0372
Actively Recruiting
18
AMM hospital val d'hebron
Barcelona, Spain
Actively Recruiting
19
Sant Joan de Deu
Barcelona, Spain
Actively Recruiting
20
Universitario de Cruces
Bilbao, Spain
Actively Recruiting
21
Hospital Infantil Universitario Nino Jesus
Madrid, Spain, 28009
Actively Recruiting
22
Hospital 12 de Octubre
Madrid, Spain, 28026
Actively Recruiting
23
Hospital Universitario La Paz
Madrid, Spain, 28046
Actively Recruiting
24
Universitario Ramon y Cajal Madrid
Madrid, Spain
Actively Recruiting
25
Hospital Universitario Virgen de la Arrixaca
Murcia, Spain, 30120
Actively Recruiting
26
Hospital Universitario Son Espases
Palma de Mallorca, Spain, 07010
Actively Recruiting
27
Hospital Universitario Virgen del Rocio
Seville, Spain, 41013
Actively Recruiting
28
Universitario Miguel Servet
Zaragoza, Spain
Actively Recruiting
29
NÄL
Trollhättan, Sweden
Terminated
30
Guy's and St. Thomas' Hospital NHS Foundation Trust
London, United Kingdom, SE1 7EH
Actively Recruiting
31
Great Ormond Street Hospital
London, United Kingdom, WC1N3JH
Actively Recruiting
32
Sheffield Children's Hospital NHS Foundation Trust
Sheffield, United Kingdom, S10 2TH
Actively Recruiting
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Research Team
V
Vincenzo Giordano, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh...
https://pubmed.ncbi.nlm.nih.gov/34635114Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.
Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura
https://pubmed.ncbi.nlm.nih.gov/32231837Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.
Ertugrul Kiykim, Ozge Oguz, Cisem Duman...
https://pubmed.ncbi.nlm.nih.gov/33552909Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
Albina Tummolo, Livio Melpignano, Antonella Carella...
https://pubmed.ncbi.nlm.nih.gov/29679984Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.
Alberto Burlina, Chiara Cazzorla, Elisa Zanonato...
https://pubmed.ncbi.nlm.nih.gov/27489777Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Sufin Yap, Delphine Lamireau, Francois Feillet...
https://pubmed.ncbi.nlm.nih.gov/38198106