Overview
Sponsor-declared trial summary
Phase
Phase III and Phase IV (Integrated)
Status
Ongoing, recruiting
Participants planned
148
Countries
5
Sites
6
Glycogen storage disease type Ia (GSDIa)
Evaluate the long-term safety and pregnancy outcomes of DTX401 in patients with GSDIa
Key facts
- Sponsor
- Ultragenyx Pharmaceutical Inc.
- Participant type
- Pediatric, Patients
- Age range
- 0-17 years, 18-64 years, 65+ years
- Gender
- Male and Female
- Therapeutic area
- Diseases [C] - Nutritional and Metabolic Diseases [C18]
- Trial duration
- 4 Nov 2024 → ongoing
- Decision date (initial)
- 2025-03-19
- Transition trial
- No
- Low-intervention
- Yes
- Rare-disease indication
- Yes
- Vulnerable population
- Yes
- Funding sources
- Ultragenyx Pharmaceutical Inc.
Trial design
CTIS Part I — objectives, methods, condition coding
Main objective
Scope: Others
Evaluate the long-term safety and pregnancy outcomes of DTX401 in patients with GSDIa
Secondary objectives 1
- Evaluate the long-term effectiveness of DTX401 in patients with GSDIa
Conditions and MedDRA coding
Glycogen storage disease type Ia (GSDIa)
| Version | Level | Code | Term | System organ class |
|---|---|---|---|---|
| 20.1 | LLT | 10056911 | Glycogen storage disease type IA | 10010331 |
Study design 1 period
| # | Title | Allocation | Blinding | Roles blinded | Arms |
|---|---|---|---|---|---|
| 1 | Overall study Long term Follow up study
|
Not Applicable | None | DTX401: DTX-401 (IMP) was administered in the associated parent studies. No IMP was administered in the long-term follow-up study. |
Regulatory references
- Scientific advice from competent authorities
- European Medicines Agency
- EMA paediatric investigation plan (PIP)
- EMEA-002734-PIP01-19
- Plan to share IPD
- No
| EU CT number | Title | Sponsor |
|---|---|---|
| 2023-504004-29-00 | A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults with Glycogen Storage Disease Type Ia (GSDIa) | Ultragenyx Pharmaceutical Inc. |
| 2023-508750-25-00 | A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adenoassociated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia. | Ultragenyx Pharmaceutical Inc. |
Eligibility criteria
Principal inclusion / exclusion criteria as submitted by sponsor
Inclusion criteria 2
- Patient who had • DTX401 (full or partial dose) administered in a parent clinical study (Group 1) or • Prescribed DTX401 (full or partial dose) administered in a post-marketing setting (Group 2)
- Patient is willing and able to provide informed consent after the study has been explained, and prior to any research-related assessments or procedures. If a minor or an adult with cognitive limitations, the patient is willing and able (if possible) to provide assent and have a legally authorized representative provide informed consent after the nature of the study has been explained, and prior to any research-related assessments or procedures.
Exclusion criteria 1
- Presence of any condition that would interfere with study participation, interpretation of results or affect patient’s safety in the opinion of the Investigator
Endpoints
Primary and secondary outcome measures (English text)
Primary endpoints 5
- Incidence and severity of SAEs assessed as related to DTX401 by the Investigator
- Incidence, relationship, severity, and seriousness of AESIs for AAV therapies (vector-induced hepatic effects [eg, increased aminotransferase levels], malignancy [new or worsening of pre-existing malignancies], thrombotic microangiopathy, dorsal root ganglion/peripheral nerve effects, and any new potential risks of AAV therapies identified over time)
- Incidence and outcomes of pregnancy in patients treated with DTX401 or patient’s partner
- Incidence and severity of SAEs of infusion-related reactions including hypersensitivitya
- Incidence and severity of SAEs assessed by the Investigator as related to concomitant immunomodulatory therapies (eg, steroids) including adrenal insufficiency and iatrogenic Cushing’s syndromea
Secondary endpoints 1
- Nutritional Assessment;Clinical/CGM/Laboratory/Imaging; Major Clinical Events (MCEs); Patient Experience Clinical Interview; HEOR:
Investigational products
Investigational medicinal products (IMPs), comparators, placebo, auxiliary
Test 1
PRD7389681 · Product
- Active substance
- Pariglasgene Brecaparvovec
- Substance synonyms
- AAV8G6PC, DTX401, DTX-401, ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 8 CONTAINING THE HUMAN GLUCOSE-6-PHOSPHATASE GENE
- Pharmaceutical form
- SOLUTION FOR INFUSION
- Route of administration
- INTRAVENOUS
- Max daily dose
- 0 g gram(s)
- Max total dose
- 0 g gram(s)
- Max treatment duration
- 1 Day(s)
- Authorisation status
- Not Authorised
- MA holder
- ULTRAGENYX PHARMACEUTICAL INC.
- Paediatric formulation
- No
- Orphan designation
- Yes
- Orphan designation number
- EU/3/16/1771
Sponsors and contacts
Sponsor organisations, regulatory contacts, third parties
Ultragenyx Pharmaceutical Inc.
- Sponsor organisation
- Ultragenyx Pharmaceutical Inc.
- Address
- 60 Leveroni Court Suite 200
- City
- Novato
- Postcode
- 94949-5746
- Country
- United States
Scientific contact point
- Organisation
- Ultragenyx Pharmaceutical Inc.
- Contact name
- Medical Information
Public contact point
- Organisation
- Ultragenyx Pharmaceutical Inc.
- Contact name
- Ultragenyx trial information group
Third parties 3
| Organisation | City, country | Duties |
|---|---|---|
| Primevigilance Zagreb d.o.o. ORG-100041973
|
Zagreb, Croatia | Code 8 |
| Stichting EuroQol Research Foundation ORG-100048809
|
Rotterdam, Netherlands | Other |
| Dietary Assessment Limited ORG-100051781
|
Leeds, United Kingdom | Other |
Locations
5 EU/EEA countries · 6 investigational sites
By country
| Country | MS status | Planned subjects | Sites |
|---|---|---|---|
| Denmark | Ongoing, recruiting | 2 | 1 |
| Germany | Ongoing, recruiting | 2 | 1 |
| Italy | Ongoing, recruiting | 4 | 2 |
| Netherlands | Ongoing, recruiting | 4 | 1 |
| Spain | Ongoing, recruiting | 2 | 1 |
| Rest of world
Japan, Brazil, Canada, United States, South Africa
|
— | 134 | — |
Investigational sites
Rigshospitalet
Department of Paediatrics and Clinical Genetics, Blegdamsvej 9, 2100, Copenhagen Oe
University Medical Center Hamburg-Eppendorf
pediatric and adolescent medicine, Martinistrasse 52, Eppendorf, Hamburg
Azienda Ospedaliera Universitaria Federico II Di Napoli
Mother Child Department, Via Sergio Pansini 5, 80131, Naples
IRCCS Istituto Giannina Gaslini
Pediatric gastroenterology and digestive endoscopy Unit, Via Gerolamo Gaslini 5, 16147, Genoa
Universitair Medisch Centrum Groningen
Dept. of Metabolic Diseases, Hanzeplein 1, 9713 GZ, Groningen
Universidade De Santiago De Compostela
Unit for Diagnosis and Treatment of Metabolic Diseases, Rua Da Choupana Sn, 15706, Santiago De Compostela
Country notifications
Trial-start, recruitment-start, end and early-termination notifications submitted per Member State
| Country | Trial start | Trial end | Recruitment start | Recruitment end | Early termination |
|---|---|---|---|---|---|
| Denmark | 2025-05-22 | 2025-05-22 | |||
| Germany | 2025-11-21 | 2025-11-21 | |||
| Italy | 2025-09-16 | 2025-09-16 | |||
| Netherlands | 2024-11-19 | 2024-11-19 | |||
| Spain | 2024-11-04 | 2024-11-04 |
Results and documents
Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial
Documents 60 files
Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.
| Type | Title | Version |
|---|---|---|
| Protocol (for publication) | D1_Protocol 2023-510219-20-00 Redacted | 1.0 |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00 EQ-5D-Y_Spanish_Redacted | NA |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00 Productivity scale -Dutch_Public | 1.0 |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00 Productivity scale -Spanish_Redacted | 1.0 |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00- EQ-5D-Y-Dutch_Public | 1.5 |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00-EQ-5D-5L _Dutch_Public | 1.1 |
| Protocol (for publication) | D4_Patient facing documents 2023-510219-20-00-EQ-5D-5L _Spanish_Redacted | NA |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-5L-Danish-Public | 1.1 |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-5L-German-Public | NA |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-5L-Italian-Public | 2.0 |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-Y-Danish-Public | 2.1 |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-Y-German-Public | 1.3 |
| Protocol (for publication) | D4_Patient facing documents-EQ-5D-Y-Italian-Public | 1.2 |
| Protocol (for publication) | D4_Patient facing documents-productivity-Danish-Public | 2.0 |
| Protocol (for publication) | D4_Patient facing documents-Productivity-Italian-Public | 2.0 |
| Protocol (for publication) | D4_Patient facing documents-Productivity-scale-German_Public | 2.0 |
| Recruitment arrangements (for publication) | K1_Recruitment arrangements | 1.1 |
| Recruitment arrangements (for publication) | K1_Recruitment arrangements Denmark_Public | 1.4 |
| Recruitment arrangements (for publication) | K1_Recruitment arrangements_ES_red | N/A |
| Recruitment arrangements (for publication) | K1_Recruitment arrangements_Public | N/A |
| Recruitment arrangements (for publication) | K1_Recruitment arrangements_public | 1.0 |
| Subject information and informed consent form (for publication) | L1_Assent 12-17y_it_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_Assent 6-11y_it_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_Main and Parental ICF_it_Redacted | 3.1 |
| Subject information and informed consent form (for publication) | L1_Pregnant Partner ICF_it_Redacted | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_12-17_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_5-6 assent_Public | 1.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_7-11 assent_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_adult_parent_Redacted | 3.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Assent 12 to17_Public | V2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Assent 7 to 11_Public | v2.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Assent up to 12_Public | 2.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Child Assent 12-16_Public | 2.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_LAR_Adult_Redacted | 3.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Main_Public | V3.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Main_Redacted | 3.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Pregnancy_Follow_Up_Public | 2.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Pregnant Partner_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Pregnant Partner_Public | V2.1 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_Pregnant_Partner_Public | 2.2 |
| Subject information and informed consent form (for publication) | L1_SIS and ICF_under 5 assent_Public | 1.2 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Assent 12-14 year olds_Clean_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Assent 15-17 year olds_Clean_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Assent 5-7 year olds_Public | 1.2 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Assent 8-11 year olds_Public | 2.1 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Assent under 5 year old_Public | 1.2 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Main_Public | 3.1 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Parent_Clean_Public | 2.2 |
| Subject information and informed consent form (for publication) | L1_SIS ICF_Pregnant partner_Public | 2.2 |
| Subject information and informed consent form (for publication) | L2_Other subject information material_Data Protection Notice_Redacted | 1.0 |
| Subject information and informed consent form (for publication) | L2_Other subject information material_Pay Portal Guide_red | 1.0 |
| Subject information and informed consent form (for publication) | L2_Other subject information material_Travel Policy_Redacted | 1 |
| Subject information and informed consent form (for publication) | L2_Other subject information material_Welcome Letter_red | 1 |
| Subject information and informed consent form (for publication) | L2_Subjects Rights Document | N/A |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis esp_2023-510219-20-00_Redacted | NA |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis nld_2023-510219-20-00_Redacted | NA |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis_2023-510219-20-00_Denmark_public | NA |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis_2023-510219-20-00_Germany_public | NA |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis_2023-510219-20-00_Italy_public | NA |
| Synopsis of the protocol (for publication) | D1_Protocol synopsis_eng_Redacted | NA |
Application history
10 submissions — initial application plus substantial / non-substantial modifications
| # | Type | Code | Submitted | Reference MS | Conclusion | Decision date |
|---|---|---|---|---|---|---|
| 1 | INITIAL | IN | 2024-05-24 | Spain | Acceptable 2024-09-16
|
2024-09-16 |
| 2 | NON SUBSTANTIAL MODIFICATION | NSM-1 | 2024-09-25 | Acceptable 2024-09-16
|
2024-09-25 | |
| 3 | NON SUBSTANTIAL MODIFICATION | NSM-4 | 2024-11-18 | Spain | Acceptable 2024-09-16
|
2024-11-18 |
| 4 | SUBSEQUENT ADDITION OF MSC | APP-4 | 2024-12-06 | Acceptable 2024-09-16
|
2025-03-11 | |
| 5 | SUBSEQUENT ADDITION OF MSC | APP-5 | 2024-12-06 | Acceptable 2024-09-16
|
2025-02-25 | |
| 6 | SUBSEQUENT ADDITION OF MSC | APP-6 | 2024-12-06 | Acceptable 2024-09-16
|
2025-03-10 | |
| 7 | NON SUBSTANTIAL MODIFICATION | NSM-5 | 2025-03-19 | Acceptable 2024-09-16
|
2025-03-19 | |
| 8 | NON SUBSTANTIAL MODIFICATION | NSM-6 | 2025-05-01 | Acceptable 2024-09-16
|
2025-05-01 | |
| 9 | SUBSTANTIAL MODIFICATION | SM-1 | 2025-05-21 | Spain | Acceptable 2025-08-19
|
2025-08-20 |
| 10 | SUBSTANTIAL MODIFICATION | SM-2 | 2025-11-03 | Spain | Acceptable 2026-01-29
|
2026-01-29 |